SYNDROMOLOGY

Molecular Syndromology

• Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA -- Wahbi et al. - Neurology 2010, 74(8): 674-677.
• Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing - Bonnart et al. - Journal of Clinical Investigation, February 22, 2010
• Large-Scale Medical Resequencing for X-Linked Mental Retardation -- Shen et al. - Clin Chem 2010, 56(3): 339-341.
• A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome -- Filipovic-Sadic et al. - Clin Chem 2010, 56(3): 399-408.
• Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential -- Johnson et al. - Nucl. Acids Res. 2010, 38(4): 1114-1122 (Free Full Text)
• DNA structure and the Werner protein modulate human DNA polymerase delta-dependent replication dynamics within the common fragile site FRA16D -- Shah et al. - Nucl. Acids Res. 2010, 38(4): 1149-1162 (Free Full Text)
• Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome -- Jaijo et al. - Investigative Ophthalmology and Visual Science 2010; 51(3):1311-1317.
• Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation -- Blyth et al. - J Neurol Neurosurg Psychiatry 2010; 81(3):350-352
• The first Chinese Pierson syndrome with novel mutations in LAMB2 -- Zhao et al. - Nephrol. Dial. Transplant. 2010, 25(3): 776-778
• Genomic imprinting: the influence of differential methylation in the two sexes -- Biliya and Bulla - Exp. Biol. Med. 2010, 235(2): 139—147
• Muscular Dystrophy: Central Nervous System {alpha}-Dystroglycan Glycosylation Defects and Brain Malformation -- Fagiolari et al. - J Child Neurol 2010, 25(3): 312-320.
• Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples -- Sørensen et al. - J Mol Diagn 2010, 12(2): 147-151
• Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation: A Multicenter Experience of 1499 Clinical Cases -- Xiang et al. - J Mol Diagn 2010, 12(2): 204-212
• Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases -- Kumánovics et al. - J Mol Diagn 2010, 12(2): 213-219
• Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome - Pierpont et al. - Am J Med Genet Part A 2010, 152A(3):591-600
• Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome - Zentner et al. - Am J Med Genet Part A 2010, 152A(3):674-686
• Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome - Santos et al. - Am J Med Genet Part A 2010, 152A(3):726-731
• c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient - Tanpaiboon et al. - Am J Med Genet Part A 2010, 152A(3):737-740
• Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease - Miller et al. - Am J Med Genet Part A 2010, 152A(3):748-752
• Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation - Yamazaki et al. - Am J Med Genet Part A 2010, 152A(3):764-769
• Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia - Zajac et al. - Am J Med Genet Part A 2010, 152A(3):770-776
• Sonic hedgehog mutation analysis in patients with VACTERL association - Aguinaga et al. - Am J Med Genet Part A 2010, 152A(3):781-783
• Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation - Bacci et al. - Clinical Genetics 2010, 77(3):293-297
• Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome - Palka et al. - Clinical Genetics 2010, 77(3):298-301
• Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients - Hoornaert et al. - European Journal of Human Genetics advance online publication 24 February 2010
• Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhoea of Infancy) - Hartley et al. - Gastroenterology 2010 Feb 19. [Epub ahead of print]
• Mutations in PNKP cause microcephaly, seizures and defects in DNA repair - Shen et al. - Nature Genetics 2010, 42(3):245-249 (Free Full Text)
• Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease - Muller et al. - Mol Cytogenet. 2010; 3(1):4. [Epub ahead of print]
• Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells - Fonseca et al. - J Clin Invest. 2010; 120(3):744–755.
• Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy - O'Toole et al. - J Clin Invest. 2010; 120(3):791-802.
• Recent advances in understanding the molecular basis of Paget disease of bone -- Goode and Layfield - J Clin Pathol 2010; 63(3):199-203
• Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1 -- Koshelev et al. - Hum. Mol. Genet. 2010, 19(6): 1066-1075
• The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells -- Kirschman et al. - Hum. Mol. Genet. 2010, 19(6): 1076-1087
• The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins - Yan et al. - PNAS 2010, 107(9):4040-4045
• Human Genetic Disorders of Axon Guidance - Engle EC. - Cold Spring Harb Perspect Biol March 2010; 2(3):a001784
• Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome - Krull et al. - Exp Clin Endocrinol Diabetes. 2010 Mar 3. [Epub ahead of print]
• Ribosomopathies: human disorders of ribosome dysfunction - Narla and Ebert - Blood 2010 Mar 1. [Epub ahead of print]
• Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease - Morgan et al. - PLoS Genet 2010, 6(2): e1000833 (Free Full Text)
• The recent genetics of hypogonadotrophic hypogonadism – novel insights and new questions - Semple and Topaloglu - Clinical Endocrinology 2010, 72(4):427-435
• Methylation-Specific Multiplex-Ligation-Dependent Probe Amplification as a Rapid Molecular Diagnostic Tool for Pseudohypoparathyroidism Type 1b - Alsum et al. - Genetic Testing and Molecular Biomarkers. February 2010, 14(1): 135-139.
• Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family - Chouchene et al. - Genetic Testing and Molecular Biomarkers. February 2010, 14(1): 145-148.
• Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy - Shimomura et al. - Dermatology. 2010 Mar 5. [Epub ahead of print]
• H syndrome: novel and recurrent mutations in SLC29A3 - Priya et al. - Br J Dermatol. 2010 Feb 25. [Epub ahead of print]
• Osteopathia striata with cranial sclerosis owing to WTX gene defect - Perdu et al. - J Bone Miner Res. 2010; 25(1):82-90.
• A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder -- Mkaouar-Rebai et al., - J Child Neurol. 2010 Mar 4. [Epub ahead of print]
• Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China -- Zhu et al., - J Child Neurol. 2010 Mar 5. [Epub ahead of print]
• X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings from a retrospective study of 24 families - Clauss et al. - Clinical Genetics, Published Online: 24 Feb 2010
• The genetics of prion diseases - Mastrianni JA. - Genet Med. 2010 Mar 3. [Epub ahead of print]
• Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations - Schmidt et al. - Acta Ophthalmol. 2010 Mar 10. [Epub ahead of print]
• Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing -- Roach et al., - Science. 2010 Mar 10. [Epub ahead of print]
• A Unified Rapid PCR Method for Detection of Normal and Expanded Trinucleotide Alleles of CAG Repeats in Huntington Chorea and CGG Repeats in Fragile X Syndrome - Todorov et al. - Mol Biotechnol. 2010 Mar 9. [Epub ahead of print]
• Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome - Su P-H. et al. - Clinical Dysmorphology 2010, 19(2):51-55
• HOXA1 mutations are not a common cause of Möbius syndrome - Rankin et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2010, 14(1):78-80
• Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband - Lin et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2010, 14(1):93-96
• A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy - Joost et al. - Pediatr Neurol 2010, 42(3):227-230
• A novel GATA3 mutation, Tyr345Cys, in hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome results in abolished DNA binding - Grigorieva et al. - Endocrine Abstracts (2010) 21 P16
• MOPDII and Alström syndrome: two centrosomopathies featuring severe insulin resistance and impaired adipogenesis - Huang-Doran et al. - Endocrine Abstracts (2010) 21 P169
• MEN2B patients with a RET A883F mutation have less aggressive MTC than those with the common RET M918T mutation - Worth et al. - Endocrine Abstracts (2010) 21 P219
• First report of SOX2 loss of function associated with a large hypothalamo-pituitary tumour; further insights into the role of SOX2 in pituitary development - Alatzoglou et al. - Endocrine Abstracts (2010) 21 P220
• A novel dominant-negative Glial Cells Missing B (GCMB) mutation (Asn502His) is associated with autosomal dominant hypoparathyroidism and results in reduced transactivation activity - Bowl et al. - Endocrine Abstracts (2010) 21 P233
• LAST UPDATE: 22 March 2010. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1 -- Gurnett et al. - Hum. Mol. Genet. 2010, 19(7): 1165-1173
• Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA -- Blackwell et al. - Hum. Mol. Genet. 2010, 19(7): 1314-1323
• Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks -- Kerzendorfer et al. - Hum. Mol. Genet. 2010, 19(7): 1324-1334
• Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications -- Jiang et al. - Hum. Mol. Genet. 2010, 19(7): 1347-1357
• Increase in type II collagen turnover after iron depletion in patients with hereditary haemochromatosis -- Richette et al. - Rheumatology 2010, 49(4):760-766
• A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1 -- Miura et al. - Hum. Reprod. 2010, 25(4): 1076-1080
• The Bloom Syndrome Protein Limits the Lethality Associated with RAD51 Deficiency - Bennani-Belhaj et al. - Mol Cancer Res March 2010, 8(3):385-394
• The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract - Verpoest et al. - J Assist Reprod Genet. 2010 Mar 11. [Epub ahead of print]
• Congenital Diarrheal Disorders: Improved Understanding of Gene Defects Is Leading to Advances in Intestinal Physiology and Clinical Management - Canani et al. - J Pediatr Gastroenterol Nutr. 2010 Feb 27. [Epub ahead of print]
• Multi-system neurological disease is common in patients with OPA1 mutations -- Yu-Wai-Man et al. - Brain 2010, 133(3):771-786 (Free Full Text)
• Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations -- Abramov et al. - Brain 2010, 133(3):797-807 (Free Full Text)
• Mitochondrial DNA mutations affect calcium handling in differentiated neurons -- Trevelyan et al. - Brain 2010, 133(3):787-796
• Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy - Zhang et al. - J. Biol. Chem. 2010, 285(13): 10005-10015.
• Epigenetic signatures of Silver–Russell syndrome -- Abu-Amero et al. - J Med Genet 2010; 47(3):150-154
• Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis -- Vos et al. - J Med Genet 2010; 47(3):169-175
• A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum -- Abbaszadeh et al. - J Med Genet 2010; 47(3):176-181
• Renal tumour suppressor function of the Birt–Hogg–Dubé syndrome gene product folliculin -- Hudon et al. - J Med Genet 2010; 47(3):182-189
• Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families -- Hynes et al. -J Med Genet 2010; 47(3):211-216
• Progeria, the nucleolus and farnesyltransferase inhibitors - Mehta et al. - Biochem. Soc. Trans 2010, 38(1): 287-291
• Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome - Pallardo et al. - Biogerontology. 2010 Mar 18. [Epub ahead of print]
• Identification of a novel locus for a USH3 like syndrome combined with congenital cataract - Dad et al - Clin Genet. 2010 Mar 1. [Epub ahead of print]
• FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions - D'haene et al. - Hum Mutat. 2010 Mar 15. [Epub ahead of print]
• A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis - Dahlqvist et al. - Am J Hum Genet. 2010 Mar 10. [Epub ahead of print]
• Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome) - Meyer et al. - Am J Hum Genet 2010, 86(3):471-478
• Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 - Green et al. - Am J Hum Genet 2010, 86(3):485-489
• Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta - Christiansen et al. - Am J Hum Genet 2010, 86(3):389-398
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies - Iannicelli et al. - Hum Mutat. 2010 Mar 15. [Epub ahead of print]
• Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome - Loeys et al. - Sci Trans Med 2010, 2(23):23ra20
• Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities - Frost et al. - Eur J Hum Genet advance online publication, March 17, 2010
• Galactosemia, a Single Gene Disorder With Epigenetic Consequences - Coman et al. - Pediatric Research 2010, 67(3):286-292
• A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations - Brussino et al. - European Journal of Neurology 2010, 17(4):541-549
• EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias - Burgunder et al. - European Journal of Neurology, Published Online: 9 Mar 2010
• Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes - Gill et al. - Hum Pathol. 2010 Mar 16. [Epub ahead of print]

Animal Models of Human Syndromes

• Growth Retardation, Impaired Triacylglycerol Catabolism, Hepatic Steatosis, and Lethal Skin Barrier Defect in Mice Lacking Comparative Gene Identification-58 (CGI-58) - Radner et al. - J. Biol. Chem. 2010, 285(10): 7300-7311.
• X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome -- Rheault et al. - Nephrol. Dial. Transplant. 2010б 25(3): 764-769
• Lack of Mid1, the Mouse Ortholog of the Opitz Syndrome Gene, Causes Abnormal Development of the Anterior Cerebellar Vermis -- Lancioni et al. - J. Neurosci. 2010, 30(8): 2880-2887
• Novel Embryonic Neuronal Migration and Proliferation Defects in Dcx Mutant Mice Are Exacerbated by Lis1 Reduction -- Pramparo et al. - J. Neurosci. 2010, 30(8): 3002-3012
• VACTERL association in a cat - Moura et al. - Am J Med Genet Part A 2010, 152A(3):777-780
• Birth defects caused by mutations in human GLI3 and mouse Gli3 genes - Naruse et al. - Congenital Anomalies 2010, 50(1):1-7
• Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+/P253R mice - Wang et al. - BMC Dev Biol. 2010; 10(1):22.
• Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome - Tanaka et al. - J Clin Invest. 2010; 120(3):768–777.
• Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice - Jain et al. - J Clin Invest. 2010; 120(3):778–790.
• The von Hippel–Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice - Hickey et al. - J Clin Invest. 2010; 120(3):827–839.
• Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans - Lasater et al. - J Clin Invest. 2010; 120(3):859–870.
• DiGeorge Syndrome, Tbx1, and Retinoic Acid Signaling Come Full Circle -- Yutzey KE. - Circ Res. 2010; 106(4):630-632 (Editorials)
• Decreased Levels of Embryonic Retinoic Acid Synthesis Accelerate Recovery From Arterial Growth Delay in a Mouse Model of DiGeorge Syndrome -- Ryckebüsch et al. - Circ. Res. 2010, 106(4): 686-694.
• A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome -- McQuibban et al. - Hum. Mol. Genet. 2010, 19(6): 987-1000
• Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits -- Sun et al. - Hum. Mol. Genet. 2010, 19(6): 1088-1097 (Free Full Text)
• Mouse phenogenomics, toolbox for functional annotation of human genome - Kim et al. - BMB Rep. 2010; 43(2):79-90.
• Identification of a van der Woude Syndrome mutation in the cleft palate 1 mutant mouse - Stottmann et al. - Genesis. 2010 Mar 1. [Epub ahead of print]
• Fragile X Mental Retardation 1 and Filamin A Interact Genetically in Drosophila Long-Term Memory - Bolduc et al. - Front Neural Circuits. 2010; 3:22 (Free Full Text)
• RANKL Inhibition Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta - Huang et al. - Connective Tissue Research 2010, 51(2):123-131.
• Hepato-Renal Pathology in Pkd2ws25/- Mice, an Animal Model of Autosomal Dominant Polycystic Kidney Disease -- Stroope et al. - Am J Pathol 2010, 176(3): 1282-1291.
• β-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1 - Huh and Ornitz - Development 2010, 137(7):1137-1147
• Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2 - Azkona et al. - Genes, Brain and Behavior 2010, 9(2):160-172
• Wnt/β-catenin signalling is down-regulated in pituitary tumours from a multiple endocrine neoplasia type 1 (MEN1) mouse model - Walls et al. - Endocrine Abstracts (2010) 21 OC2.2
• MicroRNAs, let-7 and miR-302, have an altered expression in Men1-null embryos, consistent with abnormal embryonic development - Bowl et al. - Endocrine Abstracts (2010) 21 OC3.4
• Men1 gene replacement therapy using a modified adenoviral vector demonstrates reduced proliferation rates in pituitary tumours from mice deleted for a multiple endocrine neoplasia type 1 allelle - Javid et al. - Endocrine Abstracts (2010) 21 OC3.6
• A mouse model, Slip, for an X-linked metaphyseal chondrodysplasia - Esapa et al. - Endocrine Abstracts (2010) 21 P5
• Female mice expressing constitutively active FSH receptor present with a phenotype of premature follicle depletion, premature aging and teratomas - Peltoketo et al. - Endocrine Abstracts (2010) 21 P326
• LAST UPDATE: 22 March 2010. Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes -- Kurbegovic et al. - Hum. Mol. Genet. 2010, 19(7): 1174-1189
• Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis -- Su et al. - Hum. Mol. Genet. 2010, 19(7): 1199-1210
• The utrophin A 5'-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2 -- Miura et al. - Hum. Mol. Genet. 2010, 19(7): 1211-1220
• A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta -- Barron et al. - Hum. Mol. Genet. 2010, 19(7): 1230-1247 (Free Full Text)
• Role of Magmas in protein transport and human mitochondria biogenesis -- Sinha et al. - Hum. Mol. Genet. 2010, 19(7): 1248-1262 (Free Full Text)
• Hemochromatosis and pregnancy: iron stores in the Hfe-/- mouse are not reduced by multiple pregnancies -- Neves et al. - Am J Physiol Gastrointest Liver Physiol 2010, 298(4): G525-G529
• Reversibility of functional deficits in experimental models of Rett syndrome - Cobb et al. - Biochem Soc Trans. 2010; 38(2):498-506.

CHROMOSOMAL ANOMALIES

• Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome - Mitsuhashi et al. - Congenital Anomalies 2010, 50(1):40-51
• Paternal origin of the de novo constitutional t(11;22)(q23;q11) - Ohye et al. - European Journal of Human Genetics advance online publication 24 February 2010
• Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men - Yatsenko et al. - J Urol. 2010 Feb 19. [Epub ahead of print]
• Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH - Lindstrand et al. - Clinical Genetics, Published Online: 4 Mar 2010
• Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from The Scottish Genital Anomaly Network Register - Rodie et al. - Endocrine Abstracts (2010) 21 P310
• LAST UPDATE: 22 March 2010. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis -- Conlin et al. - Hum. Mol. Genet. 2010, 19(7): 1263-1275
• The role of chromosome 21 in hematology and oncology - Fonatsch et al. - Genes Chromosomes Cancer. 2010 Mar 15. [Epub ahead of print]
• X chromosome monosomy in primary and overlapping autoimmune diseases - Svyryd et al. - Autoimmun Rev. 2010 Mar 12. [Epub ahead of print]
• The Use of Microarray Technology for Cytogenetics - Bejjani et al. - Methods Mol Biol. 2010; 632:125-39.

Chromosomal Disorders: Well-Known Syndromes

• Distinct Abnormalities in the Innate Immune System of Children with Down Syndrome - Bloemers et al. - J Pediatr. 2010 Feb 19. [Epub ahead of print]
• On the paternal origin of trisomy 21 Down syndrome - Huten et al. - Mol Cytogenet. 2010; 3(1):4. [Epub ahead of print]
• Possible contribution of XYY syndrome to neuroleptic malignant syndrome in a child receiving quetiapine -- Randolph TC. - Am J Health Syst Pharm 2010, 67(6): 459-461.
• Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome -- Menke et al. - J Clin Endocrinol Metab 2010, 95(3): 1151-1160
• Impact of Growth Hormone Therapy on Quality of Life in Adults with Turner Syndrome -- Amundson et al. - J Clin Endocrinol Metab 2010, 95(3): 1355-1359
• Tall Stature and Gonadal Dysgenesis in a Non-Mosaiс Girls 45,X - Fernandez and Pasaro - Horm Res Paediatr. 2010; 73(3):210-214.
• KLINEFELTER'S SYNDROME AND PSYCHONEUROLOGIC FUNCTION -- Verri et al., - Mol Hum Reprod. 2010 Mar 2. [Epub ahead of print]
• Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Mullerian derivatives -- Bogdanova et al., - Hum Reprod. 2010 Feb 26. [Epub ahead of print]
• Mortality After Total Cavopulmonary Connection in Children With the Down Syndrome - Gupta-Malhorta et al. - Am J Cardiol. 2010; 105(6):865-868.
• Schmid-Fraccaro Syndrome: Severe Neurologic Features - Romagna et al. - Pediatr Neurol 2010, 42(2):151-153
• Patients with Turner syndrome have a high incidence of metabolic abnormalities - Syed et al. - Endocrine Abstracts (2010) 21 P155
• Klinefelter’s syndrome often remains undiagnosed or diagnosed late - Rana et al. - Endocrine Abstracts (2010) 21 P226
• LAST UPDATE: 22 March 2010. SRY-negative 46,XX infertile male with Leydig cell hyperplasia: clinical, cytogenetic, and molecular analysis and review of the literature - Kim et al. - Fertil Steril. 2010 Mar 11. [Epub ahead of print]
• Novel genetic aspects of Klinefelter's syndrome -- Tüttelmann and Gromoll - Mol Hum Reprod. 2010 Mar 12. [Epub ahead of print]
• Klinefelter's syndrome, type 2 diabetes and the Metabolic syndrome - the impact of body composition -- Bojesen et al., - Mol Hum Reprod. 2010 Mar 15. [Epub ahead of print]
• Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics -- Hagman et al., - Hum Reprod. 2010 Mar 17. [Epub ahead of print]
• Ganglioneuroma of adrenal gland in a patient with Turner syndrome - Kamoun et al. - Ann Diagn Pathol. 2010; 14(2):133-6.

Microdeletion-Microduplication syndromes

• Ophthalmologic abnormalities in a de novo terminal 6q deletion - Abu-Amero et al. - Ophthalmic Genet. 2010; 31(1):1-11.
• Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2 - Gottlieb et al. - Ophthalmic Genet. 2010; 31(1):24-29
• Potocki-Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management - Swarr et al. - Am J Med Genet Part A 2010, 152A(3):565-572
• 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH - Dhar et al. - Am J Med Genet Part A 2010, 152A(3):573-581
• Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency - Prando et al. - Am J Med Genet Part A 2010, 152A(3):622-629
• Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study - van den Berg et al. - Am J Med Genet Part A 2010, 152A(3):630-637
• Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome) - Leoni et al. - Am J Med Genet Part A 2010, 152A(3):708-712
• Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 - Rodriguez et al. - Am J Med Genet Part A 2010, 152A(3):713-717
• Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency - Case report and review of the literature - Erez et al. - Am J Med Genet Part A 2010, 152A(3):732-736
• A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome - Pacanaro et al. - Am J Med Genet Part A 2010, 152A(3):753-758
• De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies - Ma et al. - Am J Med Genet Part A 2010, 152A(3):784-788
• Understanding variable expressivity in microdeletion syndromes - Veltman and Brunner - Nature Genetics 2010, 42(3):192-193 (Free Full Text)
• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay - Girirajan et al. - Nature Genetics 2010, 42(3):203-209 (Free Full Text)
• Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome - Lima et al. - Eur J Pediatr. 2010 Feb 26. [Epub ahead of print]
• Pathophysiology and treatment of the myelodysplastic syndrome with isolated 5q deletion -- Jädersten M. - Haematologica 2010, 95(3): 348-351 (Editorial)
• Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndrome associated with chromosome 5q deletion -- Ximeri et al. - Haematologica 2010, 95(3): 406-414 (Free Full Text)
• Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization - Seo et al. - Korean J Lab Med. 2010; 30(1):70-5 (Article in Korean)
• Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study - Liu et al. - Chin Med J (Engl). 2010; 123(4):438-42 (Free Full Text)
• Reduced NoGo-anteriorisation during continuous performance test in deletion syndrome 22q11.2 - Romanos et al. - J Psychiatr Res. 2010 Feb 24. [Epub ahead of print]
• Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28 - Reardon et al. - Eur J Pediatr. 2010 Feb 23. [Epub ahead of print]
• Clinical, Cytogenetic, and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication - Vaglio et al. - Genetic Testing and Molecular Biomarkers 2010, 14(1):57-65
• Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2) - Treadwell-Deering et al. - Journal of Developmental & Behavioral Pediatrics 2010, 31(2):137-143
• LAST UPDATE: 22 March 2010. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome -- Thienpont et al. - J Med Genet 2010; 47(3):155-161
• Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder -- Fernandez et al. - J Med Genet 2010; 47(3):195-203
• Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities - Baliff et al. - Am J Hum Genet 2010, 86(3):454-461
• Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS - Zhang et al. - Am J Hum Genet 2010, 86(3):462-470
• Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome - Willemsen et al. - Eur J Hum Genet 2010, 18(4): 429-435
• Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures - Williams et al. - Eur J Hum Genet 2010, 18(4): 436-441
• DISC1 duplication in two brothers with autism and mild mental retardation - Crepel et al. - Clinical Genetics 2010, 77(4):389-394
• Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome - Mazzeu et al. - Clinical Genetics 2010, 77(4):404-407

CLINICAL SYNDROMOLOGY

• Multimodality Neuroimaging in Tourette Syndrome: Alpha-[ 11 C] Methyl-L-Tryptophan Positron Emission Tomography and Diffusion Tensor Imaging Studies -- Saporta et al. - J Child Neurol 2010, 25(3): 336-342.
• Levetiracetam in Nonconvulsive Status Epilepticus in a Child With Angelman Syndrome -- Weber P. - J Child Neurol 2010, 25(3): 393-396.
• Pulmonary function and emphysema in Williams-Beuren syndrome - Wan et al. - Am J Med Genet Part A 2010, 152A(3):653-656
• An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management -- Weese-Mayer et al. - Am. J. Respir. Crit. Care Med. 2010; 181(6): 626-644
• Long-Term Growth Hormone Therapy Changes the Natural History of Body Composition and Motor Function in Children with Prader-Willi Syndrome -- Carrel et al. - J Clin Endocrinol Metab 2010, 95(3): 1131-1136
• Correlation of Adiponectin Receptor Expression with Cytokines and Insulin Sensitivity in Growth Hormone (GH)-Treated Children with Prader-Willi Syndrome and in Non-GH-Treated Obese Children -- Sohn et al. - J Clin Endocrinol Metab 2010, 95(3): 1371-1377
• The first case of Silver-Russell syndrome accompanied by linea alba hernia in China - Wong et al. - Singapore Med J. 2010; 51(1):e9-e11.
• Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome - Sode-Carlsen et al. - Growth Horm IGF Res. 2010 Mar 2. [Epub ahead of print]
• Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Luba Kalaydjieva - GeneReviews
• Jervell and Lange-Nielsen Syndrome - Daley et al. - GeneReviews
• Autosomal Dominant Hyper IgE Syndrome - Freeman et al. - GeneReviews
• Anaesthesia and the sex-linked dystrophies: between a rock and a hard place -- Hopkins PM. - Br. J. Anaesth. 2010, 10(4)4: 397-400 (Editorial)
• Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery -- Poole et al. - Br. J. Anaesth. 2010, 104(4): 487-489
• Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association - de Azevedo Moreira et al. - Birth Defects Res A Clin Mol Teratol. 2010 Mar 10. [Epub ahead of print]
• The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function - Kerr et al. - J Pediatr. 156(3):433-438.e1
• Kahrizi syndrome - Atlas of congenital anomalies
• Mental retardation syndrome, Mietens-Weber type - Atlas of congenital anomalies
• Mental retardation, X-linked - Atlas of congenital anomalies
• Three M syndrome - Atlas of congenital anomalies
• LAST UPDATE: 22 March 2010. Ophthalmologic Disorders in Children With Syndromic and Nonsyndromic Hearing Loss - Johnston et al. - Arch Otolaryngol Head Neck Surg. 2010; 136(3):277-280.
• Cardiomyopathy in a Duchenne Muscular Dystrophy Carrier and Her Diseased Son: Similar Pattern Revealed by Cardiovascular MRI -- Yilmaz et al. - Circulation 2010; 121(10):e237-e239 (Images in Cardiovascular Medicine)
• Epilepsy and the natural history of Rett syndrome -- Glaze et al. - Neurology 2010, 74(11): 909-912.
• Further grounds for abandoning the concept of testicular dysgenesis syndrome: a response to the paper of Akre and Richiardi (2009) -- James WH. - Hum. Reprod. 2010, 25(4): 1084-1086 (Letter)
• Defining neurogenetic phenotypes (or how to compare needles in haystacks) -- Chinnery PF. - Brain 2010, 133(3): 649-651
• An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse) -- Lovell et al. - Emerg Med J 2010; 27(3):237-238
• Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics - Donnelly et al. - Scott Med J. 2010; 55(1):14-6.

Dysmetabolic Syndromes

• Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy -- Ferdinandusse et al. - J Neurol Neurosurg Psychiatry 2010; 81(3):310-312
• End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry -- Ortiz et al. - Nephrol. Dial. Transplant. 2010, 25(3): 769-775
• Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C -- Patterson et al. - J Child Neurol 2010, 25(3): 300-305.
• Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients -- Serrano et al. - J Child Neurol 2010, 25(3): 352-358.
• From Apneic Spells to the Development of Hypertensive Hydrocephalus: A Case Report of Homocystinuria With Early Onset -- Cerbo et al. - J Child Neurol 2010, 25(3): 368-370.
• Attenuated variants of Lesch-Nyhan disease -- Jinnah et al., - Brain. 2010 Feb 22. [Epub ahead of print]
• PQ Interval in Patients With Fabry Disease - Namdar et al. - Am J Cardiol. 2010; 105(5):753-756.
• The risk of Parkinson's disease in type 1 Gaucher disease - Bultron et al. - J Inherit Metab Dis. 2010 Feb 23. [Epub ahead of print]
• Recent advances in the pathogenesis of hyper IgE syndrome - Takada and Minegishi - Nihon Rinsho Meneki Gakkai Kaishi. 2010; 33(1):15-9 (pdf)
• Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries - Hulkova et al. - Journal of Inherited Metabolic Disease 2010, 33(1):69-78
• Disease severity in sibling pairs with type 1 Gaucher disease - Elstein et al. - Journal of Inherited Metabolic Disease 2010, 33(1):79-83
• Glycogen Storage Disease Type III - Dagli et al. - GeneReviews
• Neuronal Ceroid-Lipofuscinoses - Mole and Williams - GeneReviews
• Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1 - Grigorescu-Sido et al. - Eur J Intern Med. 2010; 21(2):104-113.
• Prevalence of Developmental Disabilities and Receipt of Special Education Services among Children with an Inborn Error of Metabolism - Powell et al. - J Pediatr. 156(3):420-426
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry - Ficicioglu et al. - J Pediatr. 156(3):492-494
• The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy - Ofman et al. - EMBO Molecular Medicine 2010, 2(3):90-97
• Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects - Nasrallah et al. - Pediatr Neurol 2010, 42(3):163-171
• Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder - Geer et al. - Pediatr Neurol 2010, 42(3):223-226
• LAST UPDATE: 22 March 2010. Diffusion Tensor MR Imaging in Children with Pantothenate Kinase-Associated Neurodegeneration with Brain Iron Accumulation and Their Siblings -- Awasthi et al. - Am J Neuroradiol 2010, 31(3): 442-447
• Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder -- Leen et al. - Brain 2010б 133(3): 655-670
• Attenuated variants of Lesch-Nyhan disease -- Jinnah et al. - Brain 2010, 133(3):671-689 (Free Full Text)
• Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation -- Timmermann et al. - Brain 2010, 133(3):701-712

Dyshistogenetic Syndromes

• CT of Sclerotic Bone Lesions: Imaging Features Differentiating Tuberous Sclerosis Complex with Lymphangioleiomyomatosis from Sporadic Lymphangioleiomymatosis - Avila et al. - Radiology 2010, 254(3):851-857
• The evolution of aortic root surgery for Marfan syndrome -- Treasure 10 (3): 353 -- Interactive CardioVascular and Thoracic Surgery - Treasure T. - Interact CardioVasc Thorac Surg 2010; 10(3):353-355 (Editorial)
• Retinal Basement Membrane Abnormalities and the Retinopathy of Alport Syndrome -- Savige et al. - Investigative Ophthalmology and Visual Science 2010; 51(3):1621-1627.
• Brain structure and function in neurofibromatosis type 1: current concepts and future directions -- Payne et al. - J Neurol Neurosurg Psychiatry 2010; 81(3):304-309
• Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy - Turell et al. - Ophthalmic Genet. 2010; 31(1):12-17
• Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: A pilot study on 21 patients - Castori et al. - Am J Med Genet Part A 2010, 152A(3):556-564
• Monozygotic twins discordant for neurofibromatosis 1 - Kaplan et al. - Am J Med Genet Part A 2010, 152A(3):601-606
• Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting - Moutray et al. - Am J Med Genet Part A 2010, 152A(3):718-720
• Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy - McClelland et al. - Am J Med Genet Part A 2010, 152A(3):741-747
• Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations? - Girisha et al. - Am J Med Genet Part A 2010, 152A(3):759-763
• Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity - Jung et al. - Clinical Genetics 2010, 77(3):266-272
• Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: Do we need genetics for clinical decisions? - von Kodolitsch et al. - Vasa 2010; 39(1):17-32.
• Inherited Cancer Syndromes in Children and Young Adults - D'orazio JA. - J Pediatr Hematol Oncol. 2010 Feb 18. [Epub ahead of print]
• Kartagener's syndrome - James DJ. - J Med Biogr 2010, 18(1): 23
• Acute aortic dissection mimics acute inferoposterior wall myocardial infarction in a Marfan syndrome patient -- Phowthongkum P. - BMJ Case Reports: Published 4 March 2010; doi:10.1136/bcr.09.2009.2287
• Osteosarcoma - Gorlick and Khanna - J Bone Miner Res. 2010 Mar 4. [Epub ahead of print]
• Nail-Patella Syndrome with an Emphasis on the Risk of Renal and Ocular Findings - KAMATH and BHAGWANDAS - Pediatr Dermatol. 2010; 27(1):95-7.
• Early Mortality and Cardiorespiratory Failure in Patients with Fibrodysplasia Ossificans Progressiva -- Kaplan et al. - J Bone Joint Surg Am. 2010; 92(3):686-91.
• Metatarsal Osteosarcoma in Rothmund-Thomson Syndrome: A Case Report -- Padhy et al. - J Bone Joint Surg Am. 2010; 92(3):726-730.
• Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer - Stoffel EM. - Minerva Gastroenterol Dietol. 2010; 56(1):45-53.
• Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome - Gao et al. - Gastrointest Endosc. 2010 Feb 24. [Epub ahead of print]
• Rothmund-Thomson syndrome - Larizza et al. - Orphanet Journal of Rare Diseases 2010, 5:2 (Free Full Text)
• Pheochromocytoma and Von Hippel-Lindau in Pregnancy - Kolomeyevskaya et al. - Amer J Perinatol 2010; 27(3): 257-263
• X-linked ichthyosis: An oculocutaneous genodermatosis - Fernandes et al. - Am J Acad Dermatol 2010, 62(3):480-485
• Giant Plexiform Neurofibroma in Neurofibromatosis Type 1 - Savva et al. - Arch Neurol. 2010; 67(3):356-357.
• Multiple Endocrine Neoplasia Type 1 - Falchetti et al. - GeneReviews
• Rhizomelic Chondrodysplasia Punctata Type 1 - Braverman et al. - GeneReviews
• Berardinelli-Seip Congenital Lipodystrophy - Lionel Van Maldergem - GeneReviews
• A Current Review of the Etiology, Diagnosis, and Treatment of Pediatric Pheochromocytoma and Paraganglioma - Waguespack et al. - J Clin Endocrinol Metab. 2010 Mar 9. [Epub ahead of print]
• Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry - Walsh et al. - Clin Cancer Res. 2010 Mar 9. [Epub ahead of print]
• A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature - Schweiger et al. - J Drugs Dermatol. 2010; 9(2):167-8.
• Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome - Ray et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2010, 14(1):105 (Free Full Text)
• Atelosteogenesis - Atlas of congenital anomalies
• Ataxia-Telangiectasia - Gatti R. - GeneReviews
• Diffusion Features of White Matter in Tuberous Sclerosis With Tractography - Krishnan et al. - Pediatr Neurol 2010, 42(2):101-106
• Clinical Classification and Treatment of Congenital and Acquired Lipodystrophy - Chan and Oral - Endocrine Practice, Rapid Electronic Articles in Press, pages: 1-44
• Osteopetrosis and Congenital Hypothyroidism Complicated by Slipped Capital Femoral Epiphysis - Abaci et al. - Endocrine Practice, Rapid Electronic Articles in Press, pages: 1-15
• McCune–Albright syndrome - case presentation - Powell K. - Endocrine Abstracts (2010) 21 N2.4
• A case of polyglandular autoimmune syndrome type II and sarcoidosis - Shaikn and Murphy - Endocrine Abstracts (2010) 21 P32
• The clinical spectrum of Pendred syndrome - Kopp P. - Endocrine Abstracts (2010) 21 S1.3
• Choroidal malignant melanoma in a patient with Carney complex - Farook et al. - Endocrine Abstracts (2010) 21 P201
• Case report: multiple endocrine neoplasia type 2a and hereditary haemorrhagic telangiectasia presenting consecutively in a single patient - Hussein et al. - Endocrine Abstracts (2010) 21 P206
• LAST UPDATE: 22 March 2010. Multiple Facial Papules and Macrocephaly--Quiz Case (Cowden syndrome) - Stewart et al. - Arch Dermatol. 2010; 146(3):337-342.
• Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy - Steff et al. - Ann Dermatol Venereol. 2010; 137(3):203-207 (Article in French)
• Thanatoforic dysplasia--case report - Pietryga et al. - Ginekol Pol. 2010; 81(1):55-60 (Article in Polish)
• Ehler-Danlos syndrome type VIII - Ciarloni et al. - Ann Dermatol Venereol. 2010; 137(3):194-197 (Article in French)
• Evolution of striatal degeneration in McLeod syndrome - Valko et al. - European Journal of Neurology 2010, 17(4):612-618
• Autoimmune polyglandular syndrome-3C in a child - Turkoglu et al. - Dermatology Online Journal 2010, 16 (3): 8

Malformation Syndromes

• Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome - Glueckert et al. - Am J Med Genet Part A 2010, 152A(3):665-673
• Death in CHARGE syndrome after the neonatal period - Bergman et al. - Clinical Genetics 2010, 77(3):232-240
• Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I - Saal et al - Clinical Genetics 2010, 77(3):258-265
• Congenital polymicrogyria including the perisylvian region in early childhood - Takano et al. - Congenital Anomalies 2010, 50(1):64-67
• Bilateral absence of patella - Bilgic et al. - Congenital Anomalies 2010, 50(1):71-74
• Posterior spinal dysraphism with lumbocostovertebral syndrome - Singh et al. - British Journal of Neurosurgery 2010, 24(2):216-218.
• Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family - Akkus and Argin - Clinical Dysmorphology 2010, 19(2):56-61
• Mega-Corpus Callosum, Polymicrogyria, and Psychomotor Retardation Syndrome - Bindu et al. - Pediatr Neurol 2010, 42(2):129-132
• LAST UPDATE: 22 March 2010. Septo-optic dysplasia - Eur J Hum Genet 2010, 18(4): 393-397 (Free Full Text)

 

NEW SYNDROMES

• Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?) - A distinct syndrome? - Sousa et al. - Am J Med Genet Part A 2010, 152A(3):539-546.
• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome - Torello et al. - Am J Acad Dermatol 2010, 62(3):489-495
• Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease - Lohr et al. - Am J Hum Genet. 2010 Feb 17. [Epub ahead of print]
• Systemic aplasia cutis congenita: A case report and review of the literature - Zhou et al. - Pathol Res Pract. 2010 Feb 24. [Epub ahead of print]
• Poikilodermia, anhidrosis, hairless body, neurogenic muscle atrophy, and recurrent hematuria: a new syndrome? - Werdin et al. - Clin Dysmorphol. 2010; 19(2):65-8. (No Abstract)
• Expansion of Carraro syndrome or a new disorder? - Sulko et al. - Eur J Pediatr. 2010; 169(5):599-602.
• A novel syndrome of IGF1 and insulin supersensitivity - Huang-Doran et al. - Endocrine Abstracts (2010) 21 P169

PRENATAL SYNDROMOLOGY

• Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 → qter - Tchirikov et al. - Am J Med Genet Part A 2010, 152A(3):721-725
• Prenatal findings of paternal uniparental disomy 14: Report of four patients - Yamanaka et al. - Am J Med Genet Part A 2010, 152A(3):789-791 (No Abstract)
• First-trimester sonographic findings in trisomy 18: a review of 53 cases - Sepulveda et al. - Prenatal Diagnosis 2010, 30(3):256-259
• Meningomyelocele: Early Detection Using 3-Dimensional Ultrasound Imaging in the Family Medicine Center -- Forest et al. - J Am Board Fam Med 2010, 23(2): 270-272 (Free Full Text)
• Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics - Wenghoefer et al. - The Cleft-Palate Craniofacial Journal 2010, 47(1):15-21
• Prenatal Diagnosis of Jarcho-Levin Syndrome in Combination with Inguinoscrotal Hernia - Basaran et al. - Amer J Perinatol 2010; 27(3): 189-192
• Prenatal Ultrasound for Diagnosis of Orthopaedic Conditions - Mahan and Kasser - Journal of Pediatric Orthopaedics 2010, 30:S35-S39
• SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA - Turner et al. - Fetal & Pediatric Pathology, 2010, 29(1):57-62.
• LAST UPDATE: 22 March 2010. Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders -- Saleem and Zaki - Am J Neuroradiol 2010, 31(3): 424-429
• The role of fetal magnetic resonance imaging -- Wright et al. - Arch Dis Child Fetal Neonatal Ed 2010; 95(2):F137-F141

TERATOLOGY

• No association between severe constipation with related drug treatment in pregnant women and congenital abnormalities in their offspring: A population-based case-control study - Nándor Ács et al. - Congenital Anomalies 2010, 50(1):15-20
• Use of biocides and insect repellents and risk of hypospadias -- Dugas et al. - Occup Environ Med 2010; 67(3):196-200
• Maternal exposures to endocrine disrupting chemicals and hypospadias in offspring - Giordano et al. - Birth Defects Res A Clin Mol Teratol. 2010 Mar 1. [Epub ahead of print]
• LAST UPDATE: 22 March 2010. Medication Use in Pregnancy and Birth Outcomes Program -- Andrade et al. - CLINICAL MEDICINE & RESEARCH 2010, 8(1): 58.

Molecular Teratology

• Identification of a Primary Target of Thalidomide Teratogenicity -- Ito et al. - Science 2010, 327(5971): 1345-1350.
• LAST UPDATE: 22 March 2010. IL-1 Receptor Antagonist Protects against Placental and Neurodevelopmental Defects Induced by Maternal Inflammation -- Girard et al. - J Immunol 2010, 184(7): 3997-4005.

Experimental Teratology

• Biochemical alterations in the palatal processes in fetuses of biotin-deficient mice - Watanabe et al. - Congenital Anomalies 2010, 50(1):21-28
• Safflower and olive oil dietary treatments rescue aberrant embryonic arachidonic acid and nitric oxide metabolism and prevent diabetic embryopathy in rats -- Higa et al. - Mol. Hum. Reprod. 2010, 16(4): 286-295

Clinical Teratology

• Congenital Cytomegalovirus Infection - NEJM 2010, 362(9):833 (Images in Clinical Medicine)
• Fetal Exposure to Antidepressants and Normal Milestone Development at 6 and 19 Months of Age -- Pedersen et al. - Pediatrics 2010; 125(3): e600-e608.
• A Review of the Effects of Prenatal Cocaine Exposure Among School-Aged Children -- Ackerman et al. - Pediatrics 2010; 125(3): 554-565.
• Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family - Ozdemir et al. - Turk J Pediatr. 2009; 51(6):631-6.
• First trimester paroxetine use and the prevalence of congenital, specifically cardiac, defects: A meta-analysis of epidemiological studies - Wurst et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(3):159-170
• Maternal fever during early pregnancy and the risk of oral clefts - Hashmi et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(3):186-194
• Association of high-dose bifonazole administration during early pregnancy and severe limb reduction defects in the newborn - Linder et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(3):201-204
• LAST UPDATE: 22 March 2010. Risks to the Newborn Associated With In-Utero Exposure to Beta-Blockers and Calcium-Channel Blockers -- Davis et al. - CLINICAL MEDICINE & RESEARCH 2010, 8(1): 57.

                            GENETIC PREVENTION

Genetic Counselling

• LAST UPDATE: 22 March 2010. What Do Genetic Counselors Learn on the Job? A Qualitative Assessment of Professional Development Outcomes - Runyon et al. - J Genet Couns. 2010 Mar 19. [Epub ahead of print]
• Grounded Theory in Genetic Counseling Research: An Interpretive Perspective - Drubs and Piantanida - Journal of Genetic Counseling 2010, 19(2):99-10
• Caring for the Caregivers: An Investigation of Factors Related to Well-Being Among Parents Caring for a Child with Smith-Magenis Syndrome - Foster et al. - Journal of Genetic Counseling 2010, 19(2):187-198

Prenatal Screening

• Digital Fetal Aneuploidy Diagnosis by Next-Generation Sequencing -- Voelkerding and Lyon - Clin Chem 2010, 56(3): 336-338 ( Editorial )
• Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21 -- Chiu et al. - Clin Chem 2010, 56(3): 459-463.
• Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age - Nakata et al. - Prenatal Diagnosis 2010, 30(3):198-206
• Maternal serum human placental growth hormone at 11 to 13 weeks in trisomy 21 and trisomy 18 pregnancies - Sifakis et al. - Prenatal Diagnosis 2010, 30(3):21-215
• Maternal plasma levels of follistatin-related gene protein in the first trimester of pregnancies with Down syndrome - Miron et al. - Prenatal Diagnosis 2010, 30(3):224-228
• Identification of circulating placental mRNA in maternal blood of pregnancies affected with fetal congenital heart diseases at the second trimester of pregnancy: implications for early molecular screening - Arcelli et al. - Prenatal Diagnosis 2010, 30(3):229-234
• First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers - Spencer et al. - Prenatal Diagnosis 2010, 30(3):235-240
• Ethnic differences in informed decision-making about prenatal screening for Down's syndrome -- Fransen et al. - J Epidemiol Community Health 2010; 64(3):262-268
• LAST UPDATE: 22 March 2010. Occult inflammation and/or ischemia may be responsible for the false positivity of biochemical Down syndrome screening test - Guven et al. - J Perinat Med. 2010 Mar 18. [Epub ahead of print]
• Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA - Dagmar Tapon - Journal of Genetic Counseling 2010, 19(2):112-130

Neonatal Screening

• Newborn Screening for Galactosemia: A Review of 5 Years of Data and Audit of a Revised Reporting Approach -- Freer et al. - Clin Chem 2010, 56(3): 437-444.
• Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay -- Lindau-Shepard and Pass - Clin Chem 2010, 56(3): 445-450.
• Utilization of Blood Spot Testing for Metabolic-Genetic Disorders in Honduras: Is it Time for Newborn Screening? -- Slaughter et al. - J Child Neurol 2010, 25(3): 306-311.
• The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia -- Brosco et al. - Pediatrics 2010; 125(3): 417-419.
• Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening - Bombard et al. - European Journal of Human Genetics advance online publication 3 March 2010
• Newborn Screening System Performance Evaluation Assessment Scheme (PEAS) - Therrell et al. - Semin Perinatol. 2010; 34(2):105-120.
• Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards - Gan-Schreirer et al. - J Pediatr. 156(3):427-432
• LAST UPDATE: 22 March 2010. Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1 - Schlump et al. - European Journal of Pediatrics 2010, 169(5):569-572

Genetic Testing

• Clinical significance of ABCB1 genotyping in oncology -- Hamidovic et al. - J Oncol Pharm Pract 2010, 16(1): 39-44.
• Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools - Delatycki et al. - Clinical Genetics 2010, 77(3):241-248
• State of the Art for Genetic Testing of Infertile Men -- McLachlan and O'Bryan - J Clin Endocrinol Metab 2010, 95(3): 1013-1024
• Genetic testing in childhood / Guest Edited by Anneke Lucassen and Tara Clancy / - Special Issue - Familial Cancer 2010, 9(1):1-97
• Genetic Testing and Biomarkers in the New Decade - Sharon F. Terry - Genetic Testing and Molecular Biomarkers 2010, 14(1):1-2
• LAST UPDATE: 22 March 2010. Clinical Genetic Testing for Patients With Autism Spectrum Disorders -- Shen et al., - Pediatrics. 2010 Mar 15. [Epub ahead of print] Free Full Text (pdf)

Preimplantation Diagnosis

• Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia - Malcov et al. - Prenatal Diagnosis 2010, 30(3):207-211
• Preimplantation genetic diagnosis for haematologic conditions - El-Toukhy et al. - Current Opinion in Pediatrics 2010, 22(1):28-34
• Preimplantation genetic diagnosis -- Gibbons et al. - Can Fam Physician 2010, 56(3): 247 (Free Full Text)
• LAST UPDATE: 22 March 2010. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee{dagger} -- Harper et al. - Hum. Reprod. 2010, 25(4): 821-823
• Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol -- Johnson et al. - Hum. Reprod. 2010, 25(4): 1066-1075 (Free Full Text)
• Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21 -- Schippert et al. - Hum. Reprod. 2010, 25(4): 1081-1082 (Letter)
• Human embryonic stem cells carrying mutations for severe genetic disorders - Frumkin et al. - In Vitro Cell Dev Biol Anim. 2010 Feb 26. [Epub ahead of print]
• Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa - Fassihi et al. - Br J Dermatol. 2010 Feb 15. [Epub ahead of print]