• Genome hacking -- Greenhalgh T. - BMJ 2009; 338(1):b1322
• Common polymorphic transcript variation in human disease - Fraser and Xie - Genome Res. 2009, 19(4):567-575
• HistoneHits: A database for histone mutations and their phenotypes - Huang et al. - Genome Res. 2009, 19(4):674-681 (Free Full Text)
• Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden -- Renström et al. - Hum. Mol. Genet. 2009, 18(8): 1489-1496 (Free Full Text)
• Molecular differentiation of schizoaffective disorder from schizophrenia using BDNF haplotypes -- Lencz et al. - The British Journal of Psychiatry 2009, 194(4):313-318.
• Genome-Wide Scan for Linkage to Type 1 Diabetes in 2,496 Multiplex Families From the Type 1 Diabetes Genetics Consortium -- Concannon et al. - Diabetes 2009, 58(4): 1018 -1022.
• Estimating the number of unseen variants in the human genome - Ionita-Lasa et al. - PNAS 2009, 106(13):5008-5013
• Dynamic changes in paternal X-chromosome activity during imprinted X-chromosome inactivation in mice - Patrat et al. - PNAS 2009, 106(13):5198-5203 (Free Full Text)
• Genomic identification in the historical case of the Nicholas II royal family - Rogaev et al. - PNAS 2009, 106(13):5258-5263
• The emerging role of nuclear architecture in DNA repair and genome maintenance - Misteli and Soutoglou - Nature Reviews Molecular Cell Biology 2009, 10(4):243-254
• Aging, Biotechnology, and the Future, edited by Catherine Y. Read, Robert C. Green, and Michael A. SmyerThe Johns Hopkins University Press,Baltimore, MD,2008,266pp., ( Aging and Genetics: The Future is Here -- Cutler SJ. - Gerontologist 2009, 49: 283-285 Book Review )
• Telomere length and reproductive aging -- Hanna et al. - Hum. Reprod. 2009, 24(5): 1206-1211 (Free Full Text)
• Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation -- Lei et al. - Hum. Mol. Genet. 2009, 18(9): 1661-1669
• Kleemeier Award Lecture 2008--The Canary in the Coal Mine: Telomeres and Human Healthspan -- Effros RB. - J Gerontol A Biol Sci Med Sci 2009, 64A:(5) 511-515 (Free Full Text)
• A neural network model for constructing endophenotypes of common complex diseases: an application to male young-onset hypertension microarray data -- Lynn et al. - Bioinformatics 2009, 25(8): 981-988 (Free Full Text)
• Selective Genotyping and Phenotyping Strategies in a Complex Trait Context -- Sen et al. - Genetics 2009, 181(4): 1613–1626
• Do mitochondrial mutations cause recurrent miscarriage? -- Kaare et al. - Mol. Hum. Reprod. 2009, 15(5): 295-300
• Last update: 20 April 2009. The Neurodevelopmental Hypothesis of Schizophrenia, Revisited -- Fatemi and Folsom - Schizophrenia Bulletin 2009, 35(3):528-548
• Cardiovascular Genetics - Circ Cardiovasc Genet -- 2009, Volume 2, Issue 2 (Table of Contents)
• Genetics of stroke - Fornage M. - Curr Atheroscler Rep. 2009; 11(3):167-74.
• Human longevity and 11p15.5: a study in 1321 centenarians - Lescai et al. - European Journal of Human Genetics advance online publication 15 April 2009

DYSMORPHOLOGY

• Anatomical Characterization of Human Fetal Brain Development with Diffusion Tensor Magnetic Resonance Imaging -- Huang et al. - J. Neurosci. 2009, 29(13): 4263-4273
• Mitochondria and human preimplantation embryo development -- Wilding et al. - Reproduction 2009, 137(4): 619-624 (Free Full Text)
• Etiology of nonimmune hydrops fetalis: A systematic review - Bellini et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print]
• Prenatal X-ray Exposure and Rhabdomyosarcoma in Children: A Report from the Children's Oncology Group -- Grufferman et al. - J Neuropsychiatry Clin Neurosci 2009, 21(4): 13-23
• The role of proteomics in defining the human embryonic secretome -- Katz-Jaffe et al. - Mol. Hum. Reprod. 2009, 15(5): 271-277 (Free Full Text)
• Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses - Song et al. - Ultrasound Obstet Gynecol. 2009 Apr 6. [Epub ahead of print]
• Periconceptional folic acid and multivitamin supplementation for the prevention of neural tube defects and other congenital abnormalities - Czeizel AE. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):260-268
• Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse model - Greene et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):322-330
• Mechanistic insights into folate supplementation from Crooked tail and other NTD-prone mutant mice - Gray and Ross - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):314-321
• Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants - Harris MJ. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):331-339
• Increased prevalence of cardiovascular defects among 56,709 California twin pairs - Hardin et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia - Vernes et al. - Eur J Hum Genet. 2009 Apr 8. [Epub ahead of print] Free Full Text
• Last update: 20 April 2009. Association Between Paternal Schizophrenia and Low Birthweight: A Nationwide Population-Based Study -- Lin et al. - Schizophr Bull 2009, 35(3): 624-630
• Cortical thinning in persons at increased familial risk for major depression - Peterson et al. - PNAS 2009, 106(15):6273-6278

Molecular Dysmorphology

• Genomics of Human Intracranial Aneurysm Wall -- Shi et al. - Shi et al. - Stroke 2009; 40(4):1252-1261
• Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3 -- Chen et al. - Stroke 2009; 40(4):1474-1481
• Circumferential Strain Analysis Identifies Strata of Cardiomyopathy in Duchenne Muscular Dystrophy: A Cardiac Magnetic Resonance Tagging Study -- Hor et al. - J Am Coll Cardiol 2009, 53(1): 1204-1210.
• Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy - Segarane et al. - Neurology 2009; 72(13):1185-6 (No Abstract)
• A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells - Schwander et al. - PNAS 2009, 106(13):5252-5257
• Familial Thoracic Aortic Aneurysm and Dissection Associated with Marfan-related Gene Mutations: Case Report of a Family with Two Gene Mutations - Yamawaki et al. - Intern Med. 2009; 48(7):555-8 (Free Full Text)
• Association of LOXL1 gene with Finnish exfoliation syndrome patients - Lemmelä et al. - Journal of Human Genetics advance online publication 3 April 2009
• Clinical Spectrum of SIX3-Associated Mutations in Holoprosencephaly: Correlation between Genotype, Phenotype, and Function -- Lacbawan et al., - J Med Genet. Published Online First: 2 April 2009.
• Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine rich region -- Wang et al., - J Med Genet Published Online First: 1 April 2009.
• Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 - Birnbaum et al. - Nature Genetics 2009, 41(4): 473 - 477
• Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens -- Sharma et al. - Hum. Reprod. 2009, 24(5): 1229-1236
• A Single Nucleotide Polymorphism in the Promoter of the LOXL1 Gene and Its Relationship to Pelvic Organ Prolapse and Preterm Premature Rupture of Membranes -- Ferrell et al. - Reproductive Sciences 2009, 16(5): 438-446.
• The molecular landscape of ASPM mutations in primary microcephaly -- Nicholas et al. - J Med Genet 2009; 46(4): 249-253.
• Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux - Zu et al. - Pediatr Nephrol. 2009 Apr 7. [Epub ahead of print]
• Cholangiociliopathies: genetics, molecular mechanisms and potential therapies - Masyuk et al. - Curr Opin Gastroenterol. 2009 Apr 3. [Epub ahead of print]
• Correlation of genetic and clinical findings in Spanish patients with X-Linked Juvenile Retinoschisis (XLRS) - Riveiro-Alvarez et al. - Invest Ophthalmol Vis Sci. 2009 Mar 25. [Epub ahead of print]
• Genetic diseases of the retinal pigment epithelium - Preising and Lorenz - Ophthalmologe. 2009 Apr 4. [Epub ahead of print] Article in German
• Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview - Beaudin and Stover - Birth Defects Research Part A: Clinical and Molecular Teratology 2009,85(4):274-284
• The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects - Molloy et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):285-294
• Folic acid, methylation and neural tube closure in humans - Blom HJ. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):295-302
• Last update: 20 April 2009. G Protein-Coupled Receptors as Potential Drug Targets for Lymphangiogenesis and Lymphatic Vascular Diseases -- Dunworth and Caron - Arterioscler Thromb Vasc Biol. 2009, 29(5):650-656
• Signaling mechanisms in infantile hemangioma - Boye and Olsen - Curr Opin Hematol. 2009 Apr 13. [Epub ahead of print]
• Array CGH Reveals Genomic Aberrations in Human Emphysema - Choi et al. - Lung. 2009 Apr 8. [Epub ahead of print]
• Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2 - Dathe et al. - Am J Hum Genet. 2009; 84(4):483-492
• Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 - Noor et al. - Am J Hum Genet. 2009; 84(4):519-523

Nonsyndromic Birth Defects

• Multiple Coronary Stenosis in Infantile Moyamoya Disease -- Murakami et al. - Circulation 2009; 119(12):1689 ( Images in Cardiovascular Medicine )
• Superficial siderosis of the CNS associated with multiple cerebral cavernous malformation - Wang and Gong - Neurology 2009; 72(13):1187 (No Abstract)
• Urinary Tract Anomalies Increased in Congenital Hypothyroidism -- Mesrobian H-G.O. - AAP Grand Rounds 2009, 21(4): 37.
• Idiopathic Pulmonary Fibrosis and Diffuse Parenchymal Lung Disease: Implications from Initial Experience with 18F-FDG PET/CT -- Groves et al. - J Nucl Med 2009, 50(4): 538-545
• Schizencephaly in Infants With Thrombophilia -- Goez and Zelnik - J Child Neurol 2009, 24(4): 421-424.
• Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants -- Dagle et al. - Pediatrics 2009; 123(4):1116-23.
• Quality-of-Life Concerns Differ Among Patients, Parents, and Medical Providers in Children and Adolescents With Congenital and Acquired Heart Disease -- Marino et al. - Pediatrics 2009; 123(4):e708-e715
• Best Vitelliform Macular Dystrophy - MacDonald and Lee - GeneReviews
• Spinal Dural Arteriovenous Fistulas -- Krings and Geibprasert - Am J Neuroradiol 2009, 30(4): 639-648
• Clinical and Angiographic Results of Coiling of 196 Very Small (<= 3 mm) Intracranial Aneurysms -- van Rooij et al. - Am J Neuroradiol 2009, 30(4): 835-839
• MR angiography of a 1-year-old girl with semilobar holoprosencephaly - Byun et al. - Am J Neuroradiol 2009, 30(4): e56 (Letter) No Abstract
• Morphologic Variants of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: A Genetics-Magnetic Resonance Imaging Correlation Study -- Dalal et al. - J Am Coll Cardiol 2009, 53(15): 1289-1299.
• Pancreas bifidum - Genetic birth defects images
• Epidermolysis bullosa dystrophica, pretibial - Genetic birth defects images
• Economic Burden of Intracranial Vascular Malformations in Adults. Prospective Population-Based Study -- Miller et al., - Stroke published 9 April 2009
• Pathophysiology and genetic factors in moyamoya disease - Achrol et al. - Neurosurg Focus 2009; 26(4):E4.
• Neural tube defects in Australia: Trends in encephaloceles and other neural tube defects before and after promotion of folic acid supplementation and voluntary food fortification - Bower et al. - Birth Defects Research Part A: Clinical and Molecular Teratology 2009, 85(4):269-273
• Last update: 20 April 2009. 46 XX pure gonadal dysgenesis: an infrequent cause of primary amenorrhoea -- Pertusa and Palacios - BMJ Case Reports 2009: bcr0720080485.
• Teeth present at birth - Birth Defects Images
• Gallbladder duplication - Birth Defects Images
• Tracheobronchomegaly - Birth Defects Images

SYNDROMOLOGY

Molecular Syndromology

• Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis -- Kousi et al. - Brain 2009, 132(3): 810-819
• Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway -- Cleveland et al. - Hum. Mol. Genet. 2009, 18(8): 1384-1394
• MeCP2 involvement in the regulation of neuronal {alpha}-tubulin production -- Abuhatzira et al. - Hum. Mol. Genet. 2009, 18(8): 1415-1423
• Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy -- Osborne et al. - Hum. Mol. Genet. 2009, 18(8): 1471-1481
• p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization -- Dietschy et al. - J Cell Sci 2009, 122(8): 1258-1267.
• Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy -- Cunniff et al. - J Child Neurol 2009, 24(4): 425-430.
• Phenotypic Variations in 3 Children With POLG1 Mutations -- Burusnukul and de los Reyes - J Child Neurol 2009, 24(4): 482-486.
• Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome) -- Boycott et al., - J Child Neurol. 2009 Mar 30. [Epub ahead of print]
• Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as Functional Candidate Genes in 7 Families With Syndromic Diarrhoea - Fabre et al. - J Pediatr Gastroenterol Nutr. 2009; 48(4):501-3.
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome - Kuniba et al. - Journal of Human Genetics advance online publication 3 April 2009
• Structural modeling of mutant [alpha]-glucosidases resulting in a processing//transport defect in Pompe disease - Sugawara et al. - Journal of Human Genetics advance online publication 3 April 2009
• Identification of fibrillin-1 (FBN1) gene mutations in Marfan syndrome by high-resolution melting analysis - Hung et al. - Anal Biochem. 2009 Mar 26. [Epub ahead of print]
• VHL Mutations Linked to Type 2C von Hippel-Lindau Disease Cause Extensive Structural Perturbations in pVHL -- Knauth et al. - J. Biol. Chem. 2009, 284(16): 10514-10522.
• Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases -- Broman et al. - Br. J. Anaesth. 2009, 102(5): 642-649
• The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 -- Parfitt et al. - Hum. Mol. Genet. 2009, 18(9): 1556-1565 (Free Full Text)
• In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes -- Bulst et al. - Hum. Mol. Genet. 2009, 18(9): 1590-1599
• Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase -- Carney et al. - Hum. Mol. Genet. 2009, 18(9): 1624-1632
• The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus -- Dimitrov et al. - Hum. Mol. Genet. 2009, 18(9): 1714-1716 (Erratum)
• Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation -- Willaert et al. - J Med Genet 2009; 46(4): 233-241.
• A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family -- Hilgert et al. - J Med Genet 2009; 46(4): 272-276.
• GPR98 mutations cause Usher syndrome type 2 in males -- Ebermann et al. - J Med Genet 2009; 46(4): 277-280.
• Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia -- Failly et al. - J Med Genet 2009; 46(4): 281-286.
• Triple A syndrome: two novel mutations in the AAAS gene -- Thümmler et al. - BMJ Case Reports 2009, 71(1): bcr0920080984.
• A Novel Mutation in the LIM Homeobox 3 Gene Is Responsible for Combined Pituitary Hormone Deficiency, Hearing Impairment, and Vertebral Malformations -- Kriström et al. - J Clin Endocrinol Metab 2009, 94(4): 1154-1161
• The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome -- Zeev et al. - Neurology 2009, 72(14): 1242-1247.
• Clinical Features of Pulmonary Arterial Hypertension in Young People with an ALK1 Mutation and Hereditary Hemorrhagic Telangiectasia -- Smoot et al., - Arch Dis Child published 8 April 2009
• Molecular analyses of the LRRK2 gene in European and North-African autosomal dominant Parkinson&apos;s disease -- Lesage et al., - J Med Genet published 8 April 2009
• Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available case-control cohorts -- Brooks et al., - J Med Genet published 6 April 2009
• Recent advances in the genetics of amyotrophic lateral sclerosis - Valdmanis et al. - Curr Neurol Neurosci Rep. 2009; 9(3):198-205.
• Utility of FDG-PET in Sporadic and Tuberous Sclerosis Associated Lymphangioleiomyomatosis - Young et al. - Chest. 2009 Apr 6. [Epub ahead of print]
• Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase І (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan - Tsuburaya et al. - Brain Dev. 2009 Apr 2. [Epub ahead of print]
• Where genetics and pathology meet: mulibrey nanism - Hes and Morreau - J Pathol. 2009 Mar 11. [Epub ahead of print]
• Penetrance and clinical consequences of a gross SDHB deletion in a large family - Solis et al. - Clinical Genetics, Published Online: 7 Apr 2009
• Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis - Beaudry et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease - Van Hove et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Further case of Rubinstein-Taybi syndrome due to a deletion in EP300 - Foley et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions - Beneteau et al. - Eur J Hum Genet. 2009 Apr 8. [Epub ahead of print]
• Last update: 20 April 2009. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease -- Distelmaier et al. - Brain 2009, 132(4):833-842
• Ataxia telangiectasia and rad3-related kinase contributes to cell cycle arrest and survival after cisplatin but not oxaliplatin - Lewis et al. - Mol Cancer Ther April 2009, 8(4):855-863
• Congenital Duplication of the Palm Syndrome: Gene Analysis and the Molecular Basis of its Clinical Features -- AL-QATTAN et al. - Journal of Hand Surgery (European Volume) 2009, 34(2): 247-251.
• Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients -- Tikka et al. - Brain 2009, 132(4): 933-939 (Free Full Text)
• Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome -- Marcocci et al. - Nephrol. Dial. Transplant. 2009, 24(5): 1464-1471
• Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas - Wang et al. - PNAS 2009, 106(15):6279-6284
• Mutations in the β-myosin rod cause myosin storage myopathy via multiple mechanisms - Armel and Leinwand - PNAS 2009, 106(15):6291-6296
• A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement - Szabo et al. - Eur J Pediatr. 2009 Apr 14. [Epub ahead of print]
• Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency - Sacconi et al. - Journal of Human Genetics advance online publication 17 April 2009
• Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin - Khajuria et al. - Genet Test Mol Biomarkers. 2009; 13(2):277-80.
• Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS) - Mitchell et al. - Human Mutation, Published Online: 20 Feb 2009
• BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects - Hilton et al. - European Journal of Human Genetics advance online publication 15 April 2009
• Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families - Rodriguez-Revenga et al. - European Journal of Human Genetics advance online publication 15 April 2009
• Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome - Saunders et al. - Am J Med Genet A, Published Online: 13 Apr 2009
• Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome - Merrill et al. - Am J Hum Genet. 2009; 84(4):542-9.
• IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response - Oeffner et al. - Am J Hum Genet. 2009; 84(4):459-467

Animal Models of Human Syndromes

• Successful Low-Risk Hematopoietic Cell Therapy in a Mouse Model of Type 1 Gaucher Disease -- Enquist et al. - Stem Cells 2009, 27(3): 744 - 752
• Differential involvement of COX1 and COX2 in the vasculopathy associated with the {alpha}-galactosidase A-knockout mouse -- Park et al. - Am J Physiol Heart Circ Physiol 2009, 296(4): H1133-H1140
• Mitochondrial dysfunction in mut methylmalonic acidemia -- Chandler et al. - FASEB J. 2009, 23(4): 1252-1261.
• Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice -- Heaney et al. - Hum. Mol. Genet. 2009, 18(8): 1395-1404
• Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation -- Shiura et al. - Hum. Mol. Genet. 2009, 18(8): 1424-1438
• Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome -- Galante et al. - Hum. Mol. Genet. 2009, 18(8): 1449-1463 (Free Full Text)
• Quantitative Proteomics Characterization of a Mouse Embryonic Stem Cell Model of Down Syndrome -- Wang et al. - Mol Cell Proteomics 2009, 8(4): 585–595
• Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy -- Baughan et al. - Hum. Mol. Genet. 2009, 18(9): 1600-1611
• Complement-Dependent Neutrophil Recruitment Is Critical for the Development of Elastase-Induced Abdominal Aortic Aneurysm -- Pagano et al. - Circulation 2009; 119(13):1805-1813
• Remodelling of the respiratory network in mouse model of Rett syndrome depends on BDNF-regulated slow calcium buffering -- Mironov SL. - J Physiol published 9 April 2009
• Last update: 20 April 2009. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus -- Ben-Shachar et al., - Hum Mol Genet. 2009 Apr 15. [Epub ahead of print] Free Full Text

CHROMOSOMAL ANOMALIES

• High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: Delineating novel loci for apraxia - Kogan et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) - Grati et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Balanced translocations in mental retardation - Vandeweyer and Kooy - Hum Genet. 2009 Apr 5. [Epub ahead of print]
• Last update: 20 April 2009. Recent advance in our understanding of the molecular nature of chromosomal abnormalities - Kurahashi et al. - Journal of Human Genetics advance online publication 17 April 2009
• DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources - Firth et al. - Am J Hum Genet. 2009; 84(4):524-533

Chromosomal Disorders: Well-Known Syndromes

• DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome -- Lepagnol-Bestel et al. - Hum. Mol. Genet. 2009, 18(8): 1405-1414
• Clinical and EEG Features of Epilepsy in Children and Adolescents in Down Syndrome -- Smigielska-Kuzia et al. - J Child Neurol 2009, 24(4): 416-420.
• Complexity of force output during static exercise in individuals with Down syndrome -- Heffernan et al. - J Appl Physiol 2009, 106(4): 1227-1233, 2009.
• Klinefelter Syndrome and Cryptorchidism - Gottlieb et al. - JAMA 2009; 301(14):1436-1437.
• Klinefelter Syndrome and Cryptorchidism--Reply - Ferlin and Foresta - JAMA 2009; 301(14):1437.
• Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner’s syndrome - Prandstraller et al. - Cardiol Young. 2009 Apr 6:1-8. [Epub ahead of print]
• Constitutional trisomy 8 and Behçet syndrome - Becker et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009

Microdeletion-Microduplication syndromes

• Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome -- Fernández-Rebollo et al. - Eur J Endocrinol 2009, 160(4): 711-717.
• Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region -- Coppinger et al. - Hum. Mol. Genet. 2009, 18(8): 1377-1383
• The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature - Raas-Rothschild et al. - Eur J Med Genet. 2009 Mar 25. [Epub ahead of print]
• Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty - Dhar et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print]
• Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor - Sathyamoorthi et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print] No Abstract
• Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome -- Bassett et al. - Hum. Mol. Genet. 2009, 18(9): 1717 (Corrigendum)
• Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial -- Schmidt et al. - J Med Genet 2009; 46(4): 217-222.
• Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant -- Hannes et al. - J Med Genet 2009; 46(4): 223-232.
• Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders -- Miller et al. - J Med Genet 2009; 46(4): 242-248.
• Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter - Kirchhoff et al. - American Journal of Medical Genetics Part A, Published Online: 10 Apr 2009
• Aortic root dilation in patients with 22q11.2 deletion syndrome - John et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion - evidence for further heterogeneity? - Aten et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome - Toyoshma et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Last update: 20 April 2009. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome -- van Bon et al., - J Med Genet. Published Online First: 15 April 2009.
• A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations - Schlade-Bartusiak et al. - Am J Med Genet A. 2009 Apr 13. [Epub ahead of print]
• FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome - Felder et al. - Am J Med Genet A, Published Online: 13 Apr 2009
• A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations - Schlade-Bartusiak et al. - Am J Med Genet A, Published Online: 13 Apr 2009
• Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH - Adams et al. - Genet Med. 2009 Apr 10. [Epub ahead of print]

CLINICAL SYNDROMOLOGY

• Genetic syndromes and congenital heart defects: how is surgical management affected? -- Formigari et al. - Formigari et al. - Eur J Cardiothorac Surg 2009; 35(4): 606-614
• Myopathy with Deficiency of ISCU - Mochel and Haller - GeneReviews
• Pendred Syndrome/DFNB4 - Smith and Van Camp- GeneReviews
• Nemaline Myopathy - North and Ryan - GeneReviews
• MECP2-Related Disorders - Christodoulou and Ho - GeneReviews
• Retinotopically defined primary visual cortex in Williams syndrome -- Olsen et al. - Brain 2009, 132(3): 635-644
• Structural changes in the somatosensory system correlate with tic severity in Gilles de la Tourette syndrome -- Thomalla et al. - Brain 2009, 132(3): 765-777
• Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome - Yang et al. - NEJM 2009, 360(14):1461-1463 (Correspondence)
• Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome - NEJM 2009, 360(14):1470 (Correction)
• Incontinentia Pigmenti With Encephalocele in a Neonate: A Rare Association -- Demirel et al. - J Child Neurol 2009, 24(4): 495-499.
• Diagnosis of Fanconi anemia in patients with bone marrow failure -- Pinto et al. - Haematologica 2009, 94(4): 487-495.
• Hereditary haemorrhagic telangiectasia: a clinical and scientific review - Govani and Shovlin - European Journal of Human Genetics advance online publication 1 April 2009 (Free Full Text)
• Hermansky-Pudlak syndrome in two African-American brothers -Merideth et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print]
• Diagnosis and Management of Polyendocrinopathy Syndromes - Owen and Tim - Endocrinol Metab Clin North Am. 2009; 38(2):419-36
• Fanconi Anemia - Green and Kupfer - Hematol Oncol Clin North Am. 2009; 23(2):193-214
• Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment - Burroughs et al. - Hematol Oncol Clin North Am. 2009; 23(2):233-248
• Congenital Amegakaryocytic Thrombocytopenia and Thrombocytopenia with Absent Radii - Geddis AE. - Hematol Oncol Clin North Am. 2009; 23(2):321-331
• X-Linked Sideroblastic Anemia and Ataxia - Pagon and Bird - GeneReviews
• Autoimmune Lymphoproliferative Syndrome - Bleesing et al. - GeneReviews
• Rothmund-Thomson Syndrome - Wang and Plon - GeneReviews
• The Behavioral Spectrum of Gilles de la Tourette Syndrome -- Cavanna et al. - J Neuropsychiatry Clin Neurosci 2009, 21(1): 13-23
• A pilot open label, single dose trial of fenobam in adults with fragile X syndrome -- Berry-Kravis et al. - J Med Genet 2009; 46(4): 266-271.
• Randomized Controlled Trial to Investigate the Effects of Growth Hormone Treatment on Scoliosis in Children with Prader-Willi Syndrome -- de Lind van Wijngaarden et al. - J Clin Endocrinol Metab 2009, 94(4): 1274-1280
• Timothy syndrome - Genetic birth defects images
• Lubs X-linked mental retardation syndrome - Genetic birth defects images
• Hypomyelination and congenital cataract - Genetic birth defects images
• Neuropathological Correlates of Temporal Pole White Matter Hyperintensities in CADASIL -- Yamamoto et al., - Stroke published 9 April 2009
• Fabry disease in a patient with Turner syndrome - Brouns et al. - J Inherit Metab Dis. 2009 Apr 5. [Epub ahead of print]
• Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes - Gripp et al. - Am J Med Genet A. 2009 Apr 7. [Epub ahead of print]
• Last update: 20 April 2009. A Mystery Diagnosis: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Recessive - Gischel et al. - Lab Medicine 2009, 40(5):303-306 (Free Full Text)
• Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria - Artuso et al. - Brain Dev. 2009 Apr 9. [Epub ahead of print]
• Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation -- Mykkänen et al., - Stroke published 16 April 2009
• Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation -- Eggermann et al., - Pediatrics. 2009 Apr 13. [Epub ahead of print] Free Full Text
• Keratoderma, palmoplantar, with deafness - Birth Defects Images

Dysmetabolic Syndromes

• Lysosomal Storage Disorders in the Newborn -- Staretz-Chacham et al. - Pediatrics 2009; 123(4): 1191-1207
• 3-Methylglutaconic Aciduria Type 3 - Gunay-Aygun et al. - GeneReviews
• Adult Polyglucosan Body Disease - Klein CJ. - GeneReviews
• Sphingolipidomics: a valuable tool for understanding the roles of sphingolipids in biology and disease -- Merrill et al. - J. Lipid Res. 2009, 50: S97-102.
• Inborn Errors of Metabolism: Part 1: Overview -- Levy PA. - Pediatrics in Review 2009, 30(4): 131-138.
• Inborn Errors of Metabolism: Part 2: Specific Disorders -- Levy PA. - Pediatrics in Review 2009, 30(4): e22-e28.
• 3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family -- Tuba Eminoglu et al. - J Child Neurol 2009, 24(4): 478-481.
• Pseudotumor cerebri in Morquio type IV syndrome - Chan JW. - J Child Neurol. 2009; 24(4):514-5 (No Abstract)
• Clinical variability and diagnosis steps in childhood mitochondrial disease - Mercier et al. - Arch Pediatr. 2009; 16(4):322-30 [Article in French]
• Mitochondrial encephalomyopathies and related syndromes: brief review - Bertini and D'Amico - Endocr Dev. 2009; 14:38-52.
• Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia) -- Romano et al. - J Med Genet 2009; 46(4): 287-288 (Correspondence)
• A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease - Whybra et al. - Genet Med. 2009 Apr 2. [Epub ahead of print]
• Gene induction for the treatment of methylmalonic aciduria - Hu et al. - The Journal of Gene Medicine 2009, 11(4):361-369
• Clinical and molecular features of mitochondrial DNA depletion syndromes - Spinazzola et al. - Journal of Inherited Metabolic Disease 2009, 32(2):143-158
• Cystinosis - Nesterova and Gahl - GeneReviews
• Pathogenic cascades in lysosomal disease—Why so complex? - Walkley SU. - Journal of Inherited Metabolic Disease 2009, 32(2):181-189
• Inborn errors of purine and pyrimidine metabolism - Jureska A. - Journal of Inherited Metabolic Disease 2009, 32(2):247-263
• Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease - Auray-Blais et al. - Journal of Inherited Metabolic Disease 2009, 32(2):303-308
• Children with cataract and chronic diarrhoea: Cerebrotendinous xanthomatosis - Cruysberg JRM. - Journal of Inherited Metabolic Disease 2009, 32(2):309
• Last update: 20 April 2009. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease -- Zinnanti et al. - Brain 2009, 132(4): 903-918 (Free Full Text)
• Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome -- Brochard et al. - Nephrol. Dial. Transplant. 2009, 24(5): 1455-1464
• Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: a prospective long term cardiac magnetic resonance imaging study -- Imbriaco et al., - Heart. Published Online First: 15 April 2009
• TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations - Häberle et al. - Journal of Human Genetics advance online publication 17 April 2009

Dyshistogenetic Syndromes

• Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex -- Chu-Shore et al. - Neurology 2009, 72(13): 1165-1169.
• Marfan's Syndrome (MFS): Rare Association With Aneurysm of Feeding Artery to Intralobar Pulmonary Sequestration -- Pedrick et al. - Journal of Diagnostic Medical Sonography 2009, 25(2): 97-100.
• Medulloblastoma Variants: Age-Dependent Occurrence and Relation to Gorlin Syndrome--A New Clinical Perspective -- Garrè et al. - Clin Cancer Res 2009, 15(7): 2463-2471
• Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex -- Muncy et al. - J Child Neurol 2009, 24(4): 477.
• Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2 - Boedeker et al. - J Clin Endocrinol Metab. 2009 Mar 31. [Epub ahead of print]
• Hereditary tumor syndromes and gliomas - Reuss and von Deimling - Recent Results Cancer Res. 2009; 171:83-102.
• Follow-up and Surgical Management of Peutz-Jeghers Syndrome in Children - Vidal et al. - J Pediatr Gastroenterol Nutr. 2009; 48(4):419-425
• Non-radioisotope method for diagnosing photosensitive genodermatoses and a new marker for xeroderma pigmentosum variant - Hashimoto et al. - J Dermatol. 2009; 36(3):138-43.
• Dyskeratosis Congenita - Savage and Blanche - Hematol Oncol Clin North Am. 2009; 23(2):215-31.
• Hereditary Paraganglioma-Pheochromocytoma Syndromes - Klein et al. - GeneReviews
• Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1) -- Tucker et al. - J Med Genet 2009; 46(4): 259-265.
• Aggressive Leptomeningeal Hemangioblastomatosis of the Central Nervous System in a Patient with von Hippel-Lindau Disease -- Courcoutsakis et al. - Am J Neuroradiol 2009, 30(4): 758-760
• Pulsed Arterial Spin-Labeled MR Imaging Evaluation of Tuberous Sclerosis -- Pollock et al. - Am J Neuroradiol 2009, 30(4): 815-820
• Malignant neurilemoma with xeroderma pigmentosum -- Wang et al. - BMJ Case Reports 2009, 71(1): bcr0620080127.
• Hereditary multiple exostosis in two Nigerian siblings -- Adelowo and Adebayo - BMJ Case Reports 2009, 71(1): bcr0920080901.
• Diffuse Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia - Lacombe et al. - Chest April 2009, 135(4):1031-1037
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - Genetic birth defects images
• Li-Fraumeni syndrome - Genetic birth defects images
• Ehlers-Danlos syndrome, type VI - Genetic birth defects images
• Craniometaphyseal dysplasia, autosomal dominant - Genetic birth defects images
• Hypophosphatasia - Genetic birth defects images
• Brooke-Spiegler syndrome - Genetic birth defects images
• International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome - Fete et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Rationale and background as basis for a new classification of the ectodermal dysplasias - Itin PH. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Last update: 20 April 2009. Usher Syndrome Type II - Keats and Lentz - GeneReviews
• Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Paloveva et al. - GeneReviews
• Fibrous dysplasia: a systematic review -- MacDonald-Jankowski D. - Dentomaxillofac Radiol 2009, 38(4): 196-215.
• Mandibular neurofibromatosis type 1 misdiagnosed and treated as odontogenic abscess - Rihani FD. - BMJ Case Reports 2009: bcr0720080428.
• Women with Alport syndrome: risks and rewards of kidney donation -- Kashtan CE. - Nephrol. Dial. Transplant. 2009, 24(5): 1369-1370
• Hereditary hemorrhagic telangiectasia -- Grand’Maison A. - CMAJ 2009, 180(8): 833-835 (Free Full Text)
• Hereditary hemorrhagic telangiectasia: transient ischemic attacks -- Manawadu et al. - CMAJ 2009, 180(8): 836-837 (Free Full Text)
• Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis -- Nanda and Bhatt - CMAJ 2009, 180(8): 838 (Free Full Text)
• Hereditary hemorrhagic telangiectasia: fatigue and dyspnea -- Irani and Kasmani - CMAJ 2009, 180(8): 839 (Free Full Text)
• Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta - Swinnen et al. - Laryngoscope. 2009 Apr 8. [Epub ahead of print]
• Clinical Features of Pulmonary Arterial Hypertension in Young People with an ALK1 Mutation and Hereditary Hemorrhagic Telangiectasia - Smoot et al. - Arch Dis Child. 2009 Apr 8. [Epub ahead of print]
• Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report - Yandow et al. - J Pediatr Orthop B. 2009 Apr 15. [Epub ahead of print]
• Trichodentoosseous syndrome - Birth Defects Images
• Macrodystrophia lipomatosa - Birth Defects Images
• Aicardi-Goutieres syndrome 1 - Birth Defects Images
• Acroosteolysis with osteoporosis and changes in skull and mandible - Birth Defects Images

Malformation Syndromes

• Potter syndrome with an unusual cardiac anomaly -- Prabhu et al. - BMJ Case Reports 2009, 1: bcr0120091518.
• Shprintzen-Goldberg craniosynostosis syndrome - Genetic birth defects images
• Baller-Gerold syndrome - Genetic birth defects images
• Auriculocondylar syndrome - Genetic birth defects images
• Waardenburg syndrome in four Mexican patients - Aguilar Caso and Ortiz Nieva - J Pediatr Ophthalmol Strabismus 2009; 46(2):120-2.
• Last update: 20 April 2009. Rubinstein-Taybi Syndrome - Stevens CA. - GeneReviews
• Roberts Syndrome - Cordillo et al - GeneReviews
• Keratoderma Hereditarium Mutilans (Vohwinkel Syndrome) -- SINHA and WATSON - Journal of Hand Surgery (European Volume) 2009, 34(2): 235-237.
• Branchio-oculo-facial syndrome (BOFS) and congenital heart defects - Rosa et al - Arq Bras Cardiol. 2009; 92(2):e6-8, e33-5 (Free Full Text)
• Apert syndrome - Dental anomalies - Birth Defects Images
• Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies - Birth Defects Images
• Goldenhar syndrome - Eyes - Birth Defects Images
• Goldenhar syndrome - Dental anomalies - Birth Defects Images

NEW SYNDROMES

• Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome - Szybowska and Li - Clin Dysmorphol. 2009 Mar 31. [Epub ahead of print] No Abstract
• Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome? - Turnbull et al. - Clin Dysmorphol. 2009 Mar 31. [Epub ahead of print]
• Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome - Wieczorek et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print]
• Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 - Scholl et al. - PNAS 2009, 106(14):5842-5847 (Free Full Text)
• Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall-Riggs syndrome? - Ficcadenti et al. - American Journal of Medical Genetics Part A, Published Online: 10 Apr 2009
• NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness - Brown et al. - American Journal of Medical Genetics Part A, Published Online: 7 Apr 2009
• Last update: 20 April 2009. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients - Guion-Almeida and Richieri-Costa - Am J Med Genet A, Published Online: 13 Apr 2009

PRENATAL SYNDROMOLOGY

• A review of prenatally detected femoral abnormalities - Armstrong et al. - Clin Dysmorphol. 2009 Mar 31. [Epub ahead of print]
• Last update: 20 April 2006. Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome - Li and McDonald - Fetal Diagn Ther. 2008; 25(2):211-215.
• Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence - Rohrbach et al. - Fetal Diagn Ther. 2008; 25(2):177-182
• Wolf-Hirschhorn syndrome - Prenatal diagnosis - Birth Defects Images
• Sirenomelia - Prenatal diagnosis - Birth Defects Images
• Meckel syndrome - Prenatal diagnosis - Birth Defects Images
• Klippel-Trenaunay-Weber syndrome - Prenatal diagnosis - Birth Defects Images
• Beckwith-Wiedemann syndrome - Prenatal diagnosis - Birth Defects Images
• Ellis-van Creveld syndrome - Prenatal diagnosis - Birth Defects Images

TERATOLOGY

Experimental Teratology

• Embryonic caffeine exposure induces adverse effects in adulthood -- Wendler et al. - FASEB J. 2009, 23(4): 1272-1278.

Clinical Teratology

• Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: Possible teratogenic effect - Jackson et al. - Am J Med Genet A. 2009 Mar 30. [Epub ahead of print]
• Last update: 20 April 2009. Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs - Meador et al. - NEJM 2009, 360(16):1597-1605

GENETIC PREVENTION

• Prenatal DNA test raises both hopes and worries -- Collier R. - CMAJ 2009, 180(7): 705-706 ( News )
• Long-term Health and Quality-of-Life Consequences of Mass Screening for Childhood Celiac Disease: A 10-Year Follow-up Study -- van Koppen et al. - Pediatrics 2009; 123(4):e582-e588
• Health Literacy and Cancer Risk Perception: Implications for Genomic Risk Communication -- Brewer et al. - Med Decis Making 2009, 29(2): 157-166.
• The Cost-Effectiveness of Screening for Hereditary Hemochromatosis in Germany: A Remodeling Study -- Rogowski WH. - Med Decis Making 2009, 29(2): 224-238.
• Last update: 20 April 2009. Michigan Genetics Plan: A Report on the Needs Assessment Process -- Beene-Harris and Bach - Health Promot Pract 2009, 10(2): 201-209.

Prenatal Screening

• Antenatal screening for Down's syndrome using the Integrated test at two London hospitals -- Wald et al. - J Med Screen 2009, 16(1): 7—10
• Last update: 20 April 2009. Examination of a first-trimester Down syndrome screening concept on a mix of 11,107 high- and low-risk patients at a private center for prenatal medicine in Germany - Schaelike et al. - Eur J Obstet Gynecol Reprod Biol. 2009 Apr 9. [Epub ahead of print]

Neonatal Screening

• Newborn Screening for Sickle Cell Disease Using Tandem Mass Spectrometry - Turner et al. - Clin Chem. 2009 Apr 2. [Epub ahead of print]
• Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening -- Maier et al. - Hum. Mol. Genet. 2009, 18(9): 1612-1623 (Free Full Text)
• Permanent and transient congenital hypothyroidism in Isfahan-Iran -- Hashemipour et al. - J Med Screen 2009, 16(1): 11—16
• Evaluation of unilateral referrals on neonatal hearing screening -- Chang et al. - J Med Screen 2009, 16(1): 17—21
• Last update: 20 April 2009. Newborn Screening - Sahai and Marsden - Crit Rev Clin Lab Sci. 2009; 46(2):55-82.

Genetic Testing

• Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact - Landesbergen et al. - Fam Cancer. 2009 Mar 28. [Epub ahead of print]
• Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success -- Alswaidi and O'Brien - J Med Screen 2009, 16(1): 22—28

Preimplantation Diagnosis

• Preimplantation genetic screening outcomes are associated with culture conditions -- Beyer et al. - Hum. Reprod. 2009, 24(5): 1212-1220
• The causes of misdiagnosis and adverse outcomes in PGD -- Wilton et al. - Hum. Reprod. 2009, 24(5): 1221-1228
• Last update: 20 April 2009. Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child - De Rademaeker et al. - European Journal of Human Genetics advance online publication 15 April 2009