Initial Posting: 23 July 2010 ( syndromology@gmail.com )

HUMAN GENETICS (General Aspects)

• The power of protein interaction networks for associating genes with diseases -- Navlakha and Kingsford - Bioinformatics 2010, 26(8): 1057-1063 (Free Full Text)
• A Meta-analysis of Four Genome-Wide Association Studies of Survival to Age 90 Years or Older: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium - Newman et al. - J Gerontol A Biol Sci Med Sci 2010, 65A(5): 478-487
• Genetics of myocardial infarction: a progress report - Schunkert et al. - Eur Heart J 2010, 31(8): 918-925
• Pharmacogenetics – genomics and personalized psychiatry - Möller and Rujescu - Eur Psychiatry. 2010 Apr 12. [Epub ahead of print]
• Genetic epidemiology of chronic kidney disease - Estrella et al. - Curr Opin Nephrol Hypertens. 2010; 19(3):283-91.
• Dissecting the genetics of complex traits: lessons from hypertension -- Navis et al. - Nephrol. Dial. Transplant. 2010, 25(5): 1382-1385 (Editorial)
• Mendelian randomization: use of genetics to enable causal inference in observational studies -- Verduijn et al. - Nephrol. Dial. Transplant. 2010, 25(5): 1394-1398
• Associations between diet, lifestyle factors, and telomere length in women -- Cassidy et al. - Am J Clin Nutr 2010, 91(5): 1273-1280.
• Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies - Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration - Lancet 2010; 375(9726):1634-9.
• Evaluation of Genetic Susceptibility Loci for Obesity in Chinese Women - Shi et al. - Am. J. Epidemiol. 2010 172(3): 244-254
• Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human -- Tierling et al. - J Med Genet 2010; 47(6):371-376
• Genetics for the health sciences: a handbook for clinical healthcare -- Taleb N - J Med Genet 2010;47:578 (Book review)
• Copy number variation and human genome maps McCarroll SA. - Nature Genetics, 2010, 42, 365 - 366
• GWAS: heritability missing in action? - Clarke and Cooper - European Journal of Human Genetics 2010, 18(8), 859–861 (Letter) Free Full Text
• Last Update: 31 July 2010. Maps of beauty and disease: thoughts on genetics, confidentiality, and biological family -- Ladd V. - J Med Ethics 2010; 36(8):479-482
• Gene Dosage of the Common Variant 9p21 Predicts Severity of Coronary Artery Disease -- Dandona et al. - J Am Coll Cardiol 2010, 56(6): 479-486.
• Genotypic and phenotypic classification of cancer: How should the impact of the two diagnostic approaches best be balanced? - Brandal et al. - Genes, Chromosomes and Cancer 2010, 49(9):763-774
• A statistical method for scanning the genome for regions with rare disease alleles - Chad Garner -Genetic Epidemiology 2010, 34(5):386-395
• Human variation databases -- Küntzer et al. - Database 2010 (0):(Free Full Text)
• Genetic Enhancement, Human Nature, and Rights -- Mcconnell T. - J Med Philos 2010, 35(4): 415-428
• Epigenetics and child health: basic principles -- Groom et al. - Arch Dis Child. 2010 Jul 23. [Epub ahead of print]

DYSMORPHOLOGY

• Mechanical control of tissue and organ development - Mammoto and Ingber - Development 2010, 137(9):1407-1420
• Advances in fetal therapy -- Morris et al. - The Obstetrician & Gynaecologist 2010, 12(2): 94-102.
• Dyscerne - A European Network of Centres of Expertise for Dysmorphology
• Last Update: 31 July 2010. Role of environmental factors in axial skeletal dysmorphogenesis - Alexander and Tuan - Birth Defects Research Part C: Embryo Today: Review. 2010, 90(2):118-132
• Genetics and developmental pathology of twinning - Weber and Sebire - Semin Fetal Neonatal Med. 2010 Jul 19. [Epub ahead of print]

Molecular Dysmorphology

• Molecular basis for the development of intracranial aneurysm - Kataoka and Aoki - Expert Rev Neurother. 2010; 10(2):173-187.
• Immunohistochemistry in non-immune hydrops fetalis: A single center experience in 79 fetuses - Bellini et al. - American Journal of Medical Genetics Part A, Published Online: 13 Apr 2010
• Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity - Stockton et al. - J Exp Med 2010, 207(4):881-896
• Ophthalmological Features Associated With COL4A1 Mutations - Coupry et al. - Arch Ophthalmol. 2010; 128(4):483-489.
• Agenesis of the Arcuate Fasciculi in Congenital Bilateral Perisylvian Syndrome: A Diffusion Tensor Imaging and Tractography Study - Bernal et al. - Arch Neurol. 2010; 67(4):501-505.
• A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies -- Thiex et al. - Am J Neuroradiol 2010, 31(4): 775-779
• Role of Gremlin in the Lung: Development and Disease -- Costello et al. - Am. J. Respir. Cell Mol. Biol. 2010; 42(5): 517-523
• The von Hippel–Lindau Tumor Suppressor Protein Is Destabilized by Src - Chou et al. - Genes & Cancer March 2010, 1(3): 225-238
• Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects -- Wang et al. - Am J Clin Nutr 2010, 91(5): 1359-1367 (Free Full Text)
• Association of AHSG Gene Polymorphisms and Aortic Stiffness in Peritoneal Dialysis Patients - Jung et al. - Am J Nephrol. 2010; 31(6):510-517.
• Identification of GDNF Gene Sequence Variations in Patients with Medullary Sponge Kidney Disease -- Torregrossa et al., - Clin J Am Soc Nephrol. 2010 May 6. [Epub ahead of print]
• Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals -- Solomon et al. - J Med Genet 2010; 47(8):513-524
• Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans -- Nevet et al. - J Med Genet 2010; 47(8):533-537
• Genome-wide association study of intracranial aneurysm identifies three new risk loci - Yasuno et al. - Nature Genetics Volume 2010, 42(5), 420–425
• A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 - Beaty et al. - Nature Genetics 2010, 42(6):525-529 (letter)
• Common variants in FOXP1 are associated with generalized vitiligo - Jin et al. - Nature Genetics 2010, 42(7):576-578
• Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC - Quan et al. - Nature Genetics 2010, 42(7):614-618
• Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations - Ingersoll et al. - Eur J Hum Genet 2010, 18(6):726-732
• Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS - Farooq et al. - Eur J Hum Genet 2010, 18(6):733-736
• Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate - Suazo et al. - Am J Med Genet Part A 2010, 152A(8):2011-2016
• Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance - Blattner et al. - Am J Med Genet Part A 2010, 152A(8):2053-2056
• TBX2 gene duplication associated with complex heart defect and skeletal malformations - Radio et al - Am J Med Genet Part A 2010, 152A(8):2061-2066
• Last Update: 31 July 2010. Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development - Minoux and Rijli - Development 2010, 137(16):2605-2621
• Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene - Zhou et al. - Development 2010, 137(16):2643-2652
• A Novel Isoform of Microphthalmia-Associated Transcription Factor Inhibits IL-8 Gene Expression in Human Cervical Stromal Cells -- Li et al. - Mol Endocrinol 2010, 24(8): 1512-1528
• Neural Crest-Specific Loss of Prkar1a Causes Perinatal Lethality Resulting from Defects in Intramembranous Ossification -- Jones et al. - Mol Endocrinol 2010, 24(8): 1559-1568
• Differential Effects of Chromosome 9p21 Variation on Subphenotypes of Intracranial Aneurysm: Site Distribution -- Nakaoka et al. - Stroke 2010; 41(8):1593-1598
• COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease: A Systematic Review -- Lanfranconi and Markus - Stroke 2010; 41(8):e513-e518
• Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25 - Rojas-Martinez et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):535-537
• Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population - Adrianna Mostowska et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):538-545
• Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias - Draaken et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):546-550
• Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study - Chen et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):575-581
• Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients - Aragon-Martin et al. - Human Mutation 2010, 31(8):E1622-E1631
• Signaling by members of the TGF-β family in vascular morphogenesis and disease - Pardali et al. - Trends Cell Biol. 2010 Jul 23. [Epub ahead of print]
• Molecular characteristics of inherited congenital cataracts - Huang and He - Eur J Med Genet. 2010 Jul 9. [Epub ahead of print]
• Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism - Monica Martinez-Garcia уе al. - Clin Experiment Ophthalmol. 2010; 38(5):489-495.
• Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols - Giuliani et al. - Asian J Androl. 2010 Jul 26. [Epub ahead of print]
• SFTPC Mutations are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort -- van Moorsel et al., - Am J Respir Crit Care Med. 2010 Jul 23. [Epub ahead of print]

Epidemiology of the Birth Defects

• The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations - Zlotogora et al. - Am J Med Genet Part A 2010, 152A(8):2023-2028
• Twins with omphalocele in Denmark (1970-1989) - Merete Bugge - Am J Med Genet Part A 2010, 152A(8):2048-2052

Minor Anomalies

• Synophrys - Möhrenschlager et al. -European Journal of Medical Genetics 2010, 53(4):225-226

Nonsyndromic Birth Defects

• Congenital hypothyroidism - Rastogi and LaFranchi - Orphanet Journal of Rare Diseases 2010, 5:17 (Free Full Text - pdf)
• Inherited epidermolysis bullosa - Jo-David Fine - Orphanet Journal of Rare Diseases 2010, 5:12 (Free Full Text - pdf)
• Clinical utility gene card for: Holoprosencephaly - Dubourg et al. - European Journal of Human Genetics advance online publication 21 July 2010 (Free Full Text)
• Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence - Behunova et al. - Clinical Dysmorphology 2010, 19(3):107118
• Genetic factors in non-syndromic congenital heart malformations -Wessels and Willems - Clinical Genetics 2010, 78(2):103-123)
• Pontocerebellar hypoplasia type 6: A British case with PEHO-like features - Rankin et al. - Am J Med Genet Part A 2010, 152A(8):20792084
• Last Update: 31 July 2010. Chiari malformation in female monozygotic twins - Solth et al. - Br J Neurosurg. 2010 Jul 22. [Epub ahead of print]

SYNDROMOLOGY

• ‘Doctor Google’ ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases -- Bouwman et al. - Arch Dis Child 2010; 95(8):642-644

Molecular Syndromology

• Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders - Gao et al. - Ageing Res Rev. 2010; 9(3):363-8.
• LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome -- Gaudy-Marqueste et al. - J Med Genet 2010; 47(6):361-370
• Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer -- Nahorski et al. - J Med Genet 2010; 47(6):385-390
• Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome -- Depienne et al. - J Med Genet 2010; 47(6):404-410
• Novel CENPJ mutation causes Seckel syndrome -- Al-Dosari et al. - J Med Genet 2010, 47(6):411-414
• TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes -- Ruijs et al. - J Med Genet 2010; 47(6):421-428
• A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus -- Zollino et al. - J Med Genet 2010; 47(6):429-432
• Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population -- Billingsley et al. - J Med Genet 2010; 47(6):453-463
• Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers -- van der Post et al. - J Med Genet 2010; 47(7):464-470
• Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa -- McGee et al. - J Med Genet 2010; 47(7):499-506
• Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome -- Gerards et al. - J Med Genet 2010; 47(8):507-512
• Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly -- Maksimova et al. - J Med Genet 2010; 47(8):538-548
• Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome -- El Chehadeh et al. - J Med Genet 2010; 47(8):549-553
• Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly -- Dimitrov et al. - J Med Genet 2010; 47(8):569-574
• Mutation of the RAD51C gene in a Fanconi anemia-like disorder - Vaz et al. - Nature Genetics 2010, 42, 365 - 366
• De novo mutations of SETBP1 cause Schinzel-Giedion syndrome - Hoischen et al. - Nature Genetics 2010, 42(6):483-485
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes - Valente et al. - Nature Genetics 2010, 42(7):619-625
• Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients - Hoornaert et al. - Eur J Hum Genet 2010, 18(8):872-880
• Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients - Hoornaert et al. - Eur J Hum Genet 2010, 18(8):881
• Therapeutic exon skipping for dysferlinopathies? - Aartsma-Rus et al. - Eur J Hum Genet 2010, 18(8):889-894
• Altered TGF[beta] signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency - Renard et al. - Eur J Hum Genet 2010, 18(8):895-901
• LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma - Desir et al. - Eur J Hum Genet 2010, 18(7):761-767 (Free Full Text)
• 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 2010, 18(7):852-855
• Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I - Rauch et al - Eur J Hum Genet 2010, 18(6):642-647
• Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1 - Genzer-Nir et al. - Eur J Hum Genet 2010, 18(6):662-667
• Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis - Sparrow et al. - Eur J Hum Genet 2010, 18(6):674-679
• Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene - Caliebe et al. - European Journal of Medical Genetics 2010, 53(4):179-185
• Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD) - Barroso et al. - European Journal of Medical Genetics 2010, 53(4):204-207
• De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome - Faivre et al. - European Journal of Medical Genetics 2010, 53(4):208-212
• Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. - Alliman et al. - Clinical Genetics 2010, 78(2(:162-168
• De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features - Makrythanasis et al. - Clinical Genetics 2010, 78(2):175-180
• Hedgehog signaling update - M. Michael Cohen Jr.. - American Journal of Medical Genetics Part A 2010, 152A(8):1875-1914
• De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature - Kitsiou-Tzeli et al. - Am J Med Genet Part A 2010, 152A(8):1925-1932
• NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1 - Muram-Zborovski et al. -Am J Med Genet Part A 2010, 152A(8):1973-1978
• Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum - Rooryck et al. - Am J Med Genet Part A 2010, 152A(8):1984-1989
• Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting - Poole et al. - Am J Med Genet Part A 2010, 152A(8):1990-1993
• Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome - Hoppman-Chaney et al. - Am J Med Genet Part A 2010, 152A(8):2034-2038
• Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes - Goriely et al. - Am J Med Genet Part A 2010, 152A(8):2067-2073
• Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome - Koo et al. - Am J Med Genet Part A 2010, 152A(8):2094-2098
• Last Update: 31 July 2010. The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2a Caused by the Rare Intracellular RET Mutation S891A - Schulte et al. - Mol Endocrinol 2010, 24(8): 1675-1676
• Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease -- Zuccato et al. - Physiol. Rev. 2010, 90(3): 905-981
• A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings -- Pugliese-Pires et al. - Eur J Endocrinol 2010, 163(2): 349-355.
• Processive translocation mechanism of the human Bloom's syndrome helicase along single-stranded DNA -- Gyimesi et al. - Nucleic Acids Research 2010, 38(13):4404-4414 (Free Full Text)
• Genetic Diversity of the Fragile X Syndrome Gene (FMR1) in a Large Sub-Saharan West African Population - Peprah et al. - Annals of Human Genetics 2010, 74(4):316-325
• Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification - Serra et al. - Annals of Human Genetics 2010, 74(4):369-374
• Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome - Mitsuhashi et al. - Congenital Anomalies 50(2):85-94
• The Fanconi anemia pathway promotes DNA glycosylase-dependent excision of interstrand DNA crosslinks - Macé-Aimé et al. - Environmental and Molecular Mutagenesis 2010, 51(6):508-519
• ARX spectrum disorders: making inroads into the molecular pathology - Shoubridge et al. - Human Mutation 2010, 31(8):889-900
• Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing - Emilie Lalonde et al. - Human Mutation 2010, 31(8):918-923
• Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome - Miyake et al. - Human Mutation 2010, 31(8):966-974
• Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair - Kosinski et al. - Human Mutation 2010,31(8):975-982
• Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia - Ott et al. - Human Mutation 2010, 31(8):E1587-E1593
• The Alport syndrome COL4A5 variant database - Crockett et al. - Human Mutation 2010, 31(8):E1652-E1657
• Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers - Paolo de Gemmis et al. - Mutat Res. 2010 Jul 16. [Epub ahead of print]
• Clinical and genetic characterization of manifesting carriers of DMD mutations - Soltanzadeh et al. - Neuromuscul Disord. 2010 Jul 12. [Epub ahead of print]
• Angelman Syndrome, a Genomic Imprinting Disorder of the Brain - Chamberlain and Lalande - J. Neurosci. 2010 30(30): 9958-9963 (No Abstract)
• Growth Hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes - Grugni et al. - J Endocrinol Invest. 2010 Jul 22. [Epub ahead of print]

Animal Models of Human Syndromes

• Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome - Alford et al. - Blood 2010, 115(14):2928-2937.
• Enlarged Brain Ventricles and Impaired Neurogenesis in the Ts1Cje and Ts2Cje Mouse Models of Down Syndrome -- Ishihara et al. - Cereb. Cortex 2010, 20(5): 1131-1143
• Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome - Ng et al. - Blood 2010, 115(19): 3966-3969.
• Last Update: 31 July 2010. Human Embryonic Stem Cells as Models for Aneuploid Chromosomal Syndromes - Biancotti et al. - STEM CELLS 2010, 9999(999A), Page N/A
• Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome -- Olmos-Serrano et al. - J Neurosci. 2010; 30(29):9929-38.
• Autosomal Recessive Polycystic Kidney Disease Epithelial Cell Model Reveals Multiple Basolateral Epidermal Growth Factor Receptor Sorting Pathways -- Ryan et al. - Mol. Biol. Cell 2010, 21(15): 2732-2745.
• Toll-like receptor-4 genotype influences the survival of cystic fibrosis mice -- Canale-Zambrano et al. - Am J Physiol Gastrointest Liver Physiol 2010, 299(2): G381-G390
• Inhibition of acinar apoptosis occurs during acute pancreatitis in the human homologue {Delta}F508 cystic fibrosis mouse -- DiMagno et al. - Am J Physiol Gastrointest Liver Physiol 2010, 299(2): G400-G412
• Cell-Mediated Neuroprotection in a Mouse Model of Human Tauopathy -- Hampton et al. - J. Neurosci. 2010, 30(30): 9973-9983
• A Human-Specific Deletion in Mouse Cmah Increases Disease Severity in the mdx Model of Duchenne Muscular Dystrophy - Chandrasekharan et al. - Sci Transl Med 20010, 2(42):42ra54

CHROMOSOMAL ANOMALIES

• Karyotype of miscarriages in relation to maternal weight -- Landres et al. - Hum. Reprod. 2010, 25(5): 1123-1126
• Phenotype–genotype correlation in a familial IGF1R microdeletion case -- Veenma et al. - J Med Genet 2010; 47(7):492-498
• Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues - Morales et al. - European Journal of Medical Genetics 2010, 53(4):197-200
• X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart - Bernardini et al. - Am J Med Genet Part A 2010, 152A(8):1967-1972
• Last Update: 31 July 2010. Locus-specific dual color-probe for the enumeration of chromosome 18 in rapid FISH aneuploidy testing on uncultured amniocytes - Soucy et al. - Prenatal Diagnosis 2010, 30(8):811-812 (No Abstract)
• Progress in Cytogenetics: Implications for Child Psychopathology - Hoffman and State - J Am Acad Child Adolesc Psychiatry 2010; 49(8):736-751.

Chromosomal Disorders: Well-Known Syndromes

• 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, 25(5): 1339-1343
• Emanuel Syndrome - Medne et al. - GeneReviews
• Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C - Angel et al. - Blood Coagul Fibrinolysis. 2010; 21(4):372-5.
• A review of trisomy X (47,XXX) - Tartaglia et al. - Orphanet Journal of Rare Diseases 2010, 5:8 (Free Full Text - pdf)
• Diagnosis and mortality in 47,XYY persons: a registry study - Stochholm et al. - Orphanet Journal of Rare Diseases 2010, 5:15 (Free Full Text - pdf)
• Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits - RecalCati et al. - European Journal of Medical Genetics 2010, 53(4):186-191
• Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature - Stefanova et al. - Clinical Dysmorphology 2010, 19(3):123-127
• Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin - Fukushima et al. - Am J Med Genet Part A 2010, 152A(8):1919-1924
• Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survvival - de Carvalho et al. - Am J Med Genet Part A 2010, 152A(8):2074-2078
• Aortic dissection and moyamoya disease in Turner syndrome - Jagannath et al. - Am J Med Genet Part A 2010, 152A(8):2085-2089
• Last Update: 31 Jule 2010. Familial Mosaic Monosomy 7 Syndrome - Morrissette et al. - GeneReviews
• Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency - Browning MJ. - J Investig Allergol Clin Immunol. 2010; 20(3):263-6.
• Prognosis of Upper Eyelid Epiblepharon Repair in Down Syndrome - Lee et al. - Am J Ophthalmol. 2010 Jul 17. [Epub ahead of print]
• Analysis of peripheral blood T-cell subsets, natural killer cells and serum levels of cytokines in children with Down syndrome - Cetiner et al. - International Journal of Immunogenetics 2010, 37(4):233-237
• GABAB–GIRK2-Mediated Signaling in Down Syndrome - Cramer et al. - Adv Pharmacol. 2010; 58C:397-426.
• Klinefelter's Syndrome: A Clinical and Therapeutical Update - Forti et al. - Sex Dev. 2010 Jul 21. [Epub ahead of print]
• Autism, language and communication in children with sex chromosome trisomies -- Bishop et al. - Arch Dis Child. 2010 Jul 23. [Epub ahead of print]
• Halo nevi in Turner Syndrome - Cristina E. Bello-Quintero - Pediatr Dermatol. 2010; 27(4):368-9.

Microdeletion-Microduplication syndromes

• Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers -- Molina et al. - Mol. Hum. Reprod. 2010, 16(5): 320-328
• Pontine Tegmental Cap Dysplasia With a 2q13 Microdeletion Involving the NPHP1 Gene: Insights Into Malformations of the Mid-Hindbrain - Macferran et al. - Semin Pediatr Neurol. 2010; 17(1):69-74.
• Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions - Velinov and Dolzhanskaya - European Journal of Medical Genetics 2010, 53(4):213-216
• Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2→q24.3 in a girl with autistic features and developmental delay - Chen et al. - European Journal of Medical Genetics 2010, 53(4):217-220
• A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype - Barøy et al. - European Journal of Medical Genetics 2010, 53(4):221-224
• Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions - Bonaglia et al. - Eur J Hum Genet advance online publication, July 21, 2010
• Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder - Clayton-Smith et al. - Clinical Dysmorphology 2010, 19(3):128-132
• Delineation of 15q13.3 microdeletions - Masurel-Paulet et al. - Clinical Genetics 2010, 78(2):149-161
• Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication - Piard et al. - Am J Med Genet Part A 2010, 152A(8):1933-1941
• Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 - Irving et al. - Am J Med Genet Part A 2010, 152A(8):1942-1950
• Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions - Rosenfeld et al. - Am J Med Genet Part A 2010, 152A(8):1951-1959
• Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome - Bartsch et al. - Am J Med Genet Part A 2010, 152A(8):2099-2102
• Last Update: 31 July 2010. Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) -- Stagi et al. - Eur J Endocrinol 2010, 163(2): 329-337.
• Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome - Hanson et al. - J Dev Behav Pediatr. 2010 Jul 6. [Epub ahead of print]
• 13q13.1–q13.2 deletion in tetralogy of Fallot: Clinical report and a literature review - Costain et al. - Int J Cardiol. 2010 Jul 1. [Epub ahead of print]

CLINICAL SYNDROMOLOGY

• Autism Spectrum Disorders - Miles et al. - GeneReviews
• Early Vitrectomy Effective for Norrie Disease - Walsh et al. - Arch Ophthalmol. 2010; 128(4):456-460.
• Williams-Beuren Syndrome - NEJM 2010, 362(15):1449-1450 (Correspondence)
• CARASIL - Onodera et al. - GeneReviews
• Hermansky-Pudlak Syndrome - Cahl WA. - GeneReviews
• Predictive factors for familiality in a Danish clinical cohort of children with Tourette syndrome - Debes et al. - European Journal of Medical Genetics 2010, 53(4):171-178
• Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. - Peters et al. - Am J Med Genet Part A 2010, 152A(8):1994-2001
• Familial syndrome resembling Aarskog syndrome - Mingzhi Xu et al. - Am J Med Genet Part A 2010, 152A(8):2017-2022
• Co-occurrence of Prader-Willi and Sotos syndromes - Okamoto et al. - Am J Med Genet Part A 2010, 152A(8):2103-2109
• Last Update: 31 July 2010. Silver-Russell syndrome: genetic basis and molecular genetic testing - Eggermann et al. - Orphanet Journal of Rare Diseases 2010, 5:19 (Free Full Text)
• Successful Treatment of Esophageal Squamous Cell Carcinoma in a Patient with Fanconi Anemia -- Hosoya et al. - Jpn. J. Clin. Oncol. 2010, 40(10): 805-810
• Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies -- Paradas et al. - Neurology 2010, 75(4): 316-323.
• Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters - Blokhuis et al. - Fam Cancer. 2010 Jul 17. [Epub ahead of print]
• Aberrant muscle syndrome: Hypertrophy of the hand and arm due to aberrant muscles with or without hypertrophy of the muscles - Ogino et al. - Congenital Anomalies 2010, 50(2):133-138
• Mitochondrial myopathies: developments in treatment - Yassani et al. - Curr Opin Neurol. 2010 Jul 21. [Epub ahead of print]
• Glomerular diseases: genetic causes and future therapeutics - Chiang and Inagi - Nature Reviews Nephrology, Published online 20 July 2010
• The Genetics of Obsessive-Compulsive Disorder and Tourette Syndrome: An Epidemiological and Pathway-Based Approach for Gene Discovery - Grados MA. - J Am Acad Child Adolesc Psychiatry 2010; 49(8):810-819.e2.
• Congenital craniofacial anomalies - Forbes BJ. - Curr Opin Ophthalmol. 2010 Jul 14. [Epub ahead of print]
• Werner's syndrome as a hereditary risk factor for exocrine pancreatic cancer: Potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy - Chun and Yee - Cancer Biol Ther. 2010; 10(5).
• High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families - Cevoli et al. - Cephalalgia 2010; 30(8):919-27.

Dysmetabolic Syndromes

• Niemann-Pick disease type C - Vanier MT - Orphanet Journal of Rare Diseases 2010, 5:16 (Free Full Text - pdf)
• Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review - Pinto et al. - Orphanet Journal of Rare Diseases 2010, 5:14 (Free Full Text - pdf)
• Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Van de Knaap and Scheper - GeneReviews
• High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families - Cevoli et al. - Cephalalgia August 2010, 30(8): 919-927
• Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease - Packman et al. - Am J Med Genet Part A 2010, 152A(8):2002-2010
• Last Update: 31 Jule 2010. Mucolipidosis IV - Schiffmann et al. - GeneReviews
• Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) - Kashtan CE. - GeneReviews
• Fabry disease: a review of current management strategies -- Mehta et al., - QJM. 2010 Jul 21. [Epub ahead of print]

Dyshistogenetic Syndromes

• Multiple Endocrine Neoplasia Type 2 - Moline and Eng - GeneReviews
• Ehlers-Danlos Syndrome, Hypermobility Type - Levy HP. - GeneReviews
• Alexander Disease - Gorospe JF. - GeneReviews
• Dysferlinopathy - Aoki M. - GeneReviews
• Alagille Syndrome - Spinner et al. - GeneReviews
• The revised Ghent nosology for the Marfan syndrome -- Loeys et al. - J Med Genet 2010 ;47(7):476-485
• Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1 -- Stewart et al. - J Med Genet 2010; 47(8):525-532
• Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome - Castori et al. - Am J Med Genet Part A 2010, 152A(8):2043-2047
• Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation - Borck et al. - Am J Med Genet Part A 2010, 152A(8):2090-2093
• Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood - Izumi et al. - Am J Med Genet Part A 2010, 152A(8):2115-2119 (Letter)
• Last Update: 31 Jule 2010. Nevoid Basal Cell Carcinoma Syndrome - Evans and Farndon - GeneReviews
• Chediak-Higashi Syndrome - Introne et al. - GeneReviews
• Enchondromatosis: insights on the different subtypes - Pansuriya et al. - Int J Clin Exp Pathol. 2010, 26;3(6):557-69.
• Glioblastomas With Giant Cell and Sarcomatous Features in Patients With Turcot Syndrome Type 1: A Clinicopathological Study of 3 Cases - Lusis et al. - Neurosurgery. 2010 Jul 22. [Epub ahead of print]
• First report of effective and feasible treatment of multifocal lymphangiomatosis (Gorham–Stout) with bevacizumab in a child - Grunewald et al. - Ann Oncol (2010) 21(8): 1733-1734
• Tenascin-X Deficiency and Ehlers-Danlos Syndrome: A case report and review of the literature - O'Connell et al. - Br J Dermatol. 2010 Jul 22. [Epub ahead of print]

Malformation Syndromes

• Aicardi Syndrome - Sutton and Van den Veyver - GeneReviews
• Lenz Microphthalmia Syndrome - Ng D. - GeneReviews
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome - Sutton et al. - GeneReviews
• Coffin-Lowry syndrome - Pereira et al. - Eur J Hum Genet 2010, 18(6):627-633 (Free Full Text)
• The face of Noonan syndrome: Does phenotype predict genotype - Allanson et al. - Am J Med Genet Part A 2010, 152A(8):1960-1966
• Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis - Guion-Almeida et al. - Am J Med Genet Part A 2010, 152A(8):2039-2042
• Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review - Dalal et al. - Am J Med Genet Part A 2010, 152A(8):2057-2060
• New report of a familial case of Moebius syndrome presenting skeletal findings - Graziadio et al. - Am J Med Genet Part A 2010, 152A(8):2134-2138
• Last Update: 31 July 2010. Joubert Syndrome and related disorders - Brancati et al. - Orphanet Journal of Rare Diseases 2010, 5:20 (Free Full Text)
• Bardet-Biedl Syndrome - Waters and Beales - GeneReviews
• Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence? - Farra et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):582-585
• Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation - Hosokawa et al. - Congenital Anomalie 2010, 50(2):129-132
• Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature - Shafeghati et al. - Eur J Pediatr. 2010 Jul 27. [Epub ahead of print]

NEW SYNDROMES

• Identification of an X-Linked Deletion Syndrome Through Comparative Genomic Hybridization Microarray - Rush and Schaefer - Semin Pediatr Neurol. 2010; 17(1):51-3.
• Poikilodermia, anhidrosis, hairless body, neurogenic muscle atrophy, and recurrent hematuria: a new syndrome? - Werdin et al. - Clinical Dysmorphology 2010, 19(2):65-68 (No Abstract)
• Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers - Lamonica et al. - Clinical Dysmorphology 2010, 19(2):76-78 (No Abstract)
• Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech -- Bonnet et al. - J Med Genet 2010; 47(6):377-384
• Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems - Belligni et al. - European Journal of Medical Genetics 2010, 53(4):192-196
• Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome - Verstraeten et al. - Clinical Dysmorphology 2010, 19(3):119-122
• New syndrome - Situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing - Balci et al. - Clinical Dysmorphology 2010, 19(3):173-174 - An abstract is unavailable.
• New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies - Stevens and Lachman - Am J Med Genet Part A 2010, 152A(8):1915-1918
• Last Update: 31 July 2010. Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and “fork and bracket sign” in the MRI: A distinct syndrome - Mégarbané et al. - Am J Med Genet Part A. - Published Online: 23 Jul 2010

• PRENATAL SYNDROMOLOGY

  • Antenatal Sonographic Features of Poland Syndrome on 2- and 3-Dimensional Sonography - Berdel and Henrich - J Ultrasound Med 2010, 29(4): 679-680 (No Abstract)
  • Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases - Nowaczyk et al. - Am J Med Genet Part A 2010, 152A(8):2029-2033
  • Last Update: 31 July 2010. Evaluation of the usefulness of the fetal femur length with respect to gestational age to detect Down syndrome in Korean subjects - Cho et al. - Prenatal Diagnosis 2010, 30(8):734-738
  • Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR - Sheath et al. -Prenatal Diagnosis 2010, 30(8):803-805

TERATOLOGY

• Last Update: 31 July 2010. The Ribavirin Pregnancy Registry: Findings after 5 years of enrollment, 2003-2009 - Roberts et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):551-559
• Caffeine, selected metabolic gene variants, and risk for neural tube defects - Schmidt et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2010, 88(7):560-569
• Congenital abnormalities in the offspring of pregnant women with type 1, type 2 and gestational diabetes mellitus: A population-based case-control study - Bánhidy et al. - Congenital Anomalies 2010, 50(2):115-121
• Teratogenic potential of pholedrine: A sympathomimetic vasoconstrictive drug – A population-based case-control study - Bánhidy et al. - Congenital Anomalies 2010, 50(2):122-128

Molecular Teratology

• Last Update: 31 July 2010. Oxidative DNA damage and repair in teratogenesis and neurodevelopmental deficits - Wells et al. - Birth Defects Research Part C: Embryo Today: Reviews 2010, 90(2):103-109
• Experimental Teratology

  Last Update: 31 Jule 2010. Methylnitrosourea induces neural progenitor cell apoptosis and microcephaly in mouse embryos - Komada et al. - Birth Defects Research Part B: Developmental and Reproductive Toxicology 2010, 89(3):213-222

   

  • Clinical Teratology
  • Smoking and smoking cessation in pregnancy -- Eastham and Gosakan - The Obstetrician & Gynaecologist 2010, 12(2): 103-109.

GENETIC PREVENTION

• Health Care Professionals’ Views of Sharing Information with Families Who Have a Child with a Genetic Condition - Gallo et al. - Journal of Genetic Counseling 2010, 19(3):296-304

Genetic Counselling

• ADVANCING PATERNAL AND MATERNAL AGE ARE BOTH IMPORTANT FOR AUTISM RISK -- Reichenberg et al. - Am J Public Health 2010, 100(5): 772-773 (Letter)
• Importance of family history in patients with adrenoleukodystrophy -- Das et al. - QJM 2010, 103(8): 628-630 (Letter)
• Re-conceptualizing Risk in Genetic Counseling: Implications for Clinical Practice - Austin JC. - Journal of Genetic Counseling 2010, 19(3):228-234
• Life as a Pregnant Genetic Counselor - Kit Clark - Journal of Genetic Counseling 2010, 19(3):235-237
• Parental Decisions Regarding a Prenatally Detected Fetal Chromosomal Abnormality and the Impact of Genetic Counseling: An Analysis of 38 Cases with Aneuploidy in Southeast Turkey - Balkan et al. - Journal of Genetic Counseling 2010, 19(3):241-246
• Genetic Counseling for Fetal Abnormalities in a South African Community - Todd et al. - Journal of Genetic Counseling 2010, 19(3):247-254
• Concerns of South Korean Patients and Family Members Affected with Genetic Conditions: A Content Analysis of Internet Website Messages - Kang et al. - Journal of Genetic Counseling 2010, 19(3):280-295
• Last Update: 31 Jule 2010. Genetic evaluation and counseling for epilepsy - Pal et al. - Nature Reviews Neurology, Published online 20 July 2010

Prenatal Screening

• Moderately increased risks of Down's syndrome (1/51-1/270) identified on first trimester sequential screening: What do patients do with this information? -- Wagner et al. - J Med Screen 2010, 17(1): 4—7
• Distribution of nuchal translucency in antenatal screening for Down's syndrome -- Bestwick et al. - J Med Screen 2010, 17(1): 8—12 (Free Full Text)
• Evaluation of a proposed mixture model to specify the distributions of nuchal translucency measurements in antenatal screening for Down's syndrome -- Bestwick et al. - J Med Screen 2010, 17(1): 13—18 (Free Full Text)
• Maternal Serum Placental Protein 13 at Eleven to Thirteen Weeks in Chromosomally Abnormal Pregnancies - Akolekar et al. - Fetal Diagn Ther 2010; 27(2):72-77
• Transcervical retrieval of fetal cells in the practice of modern medicine: a review of the current literature and future direction - Imudia et al. - Fertility and Sterility 2010, 93(6):1725-1730
• Outcome of pregnancies with trisomy 2 cells in chorionic villi - Sifakis et al. - Prenatal Diagnosis 2010, 30(4):329-332
• Last Update: 31 July 2010. Identification of universal mRNA markers for noninvasive prenatal screening of trisomies - Elena Picchiassi et al. - Prenatal Diagnosis 2010, 30(8):764-770
• Down syndrome screening using first-trimester combined tests and contingent use of femur length at routine anomaly scan - Salomon et al. - Prenatal Diagnosis 2010, 30(8):783-789
• First- and Second-Trimester ADAM12s in Down Syndrome Screening -- Baviera et al. - Clinical Chemistry 2010, 56(8): 1355-1357 (Letter)

Neonatal Screening

• Dried Blood Spot Real-time Polymerase Chain Reaction Assays to Screen Newborns for Congenital Cytomegalovirus Infection - Boppana et al. - JAMA 2010; 303(14):1375-1382.
• Screening Newborns for Congenital Cytomegalovirus Infection - Bale JF. - JAMA 2010; 303(14):1425-1426 (Editorial)
• Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening - Bombard et al - Eur J Hum Genet 2010, 18(7):751-760
• Last Update: 31 July 2010. Screening Newborns for Congenital Cytomegalovirus Infection - de Vries et al. - JAMA 2010; 304(4):407 (Letter)
• Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12 - Quadros et al. - Human Mutation 2010, 31(8):924-929
• An Update on Cystic Fibrosis Screening - Goetzinger and Cahill - Clin Lab Med. 2010; 30(3):533-43.

Genetic Testing

• DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model - Wordsworth et al. - Eur Heart J 2010, 31(8): 926-935
• Genetic screening: A primer for primary care -- Andermann and Blancquaert - Can Fam Physician 2010, 56(4): 333 -339.

Preimplantation Diagnosis

• A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers -- Traversa et al. - Mol. Hum. Reprod. 2010, 16(5): 329-337
• Last Update: 31 Jule 2010. Preimplantation genetic diagnosis in Saudi Arabia: parents's experience and attitudes - Alsulaiman et al. - Prenatal Diagnosis 2010, 30(8):7530757
• Women's experience of pre-implantation genetic diagnosis: a qualitative study - Karatas et al. - Prenatal Diagnosis 2010, 30(8):771-777)