Work Space for Clinical Geneticists

Реферат от 30 января 2012

Genetic Center
Filatov's Child Clinical Hospital © 2001-2010
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:

The most recent articles published online

April 23, 2012

Initial Posting: April 2, 2012 (syndromology@gmail.com)

HUMAN GENETICS (General Aspects)
 
• Are Myocardial Infarction–Associated Single-Nucleotide Polymorphisms Associated With Ischemic Stroke? - Cheng et al. - Stroke 2012; 43(4): 980-986
• Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers - Couch et al. - Cancer Epidemiol Biomarkers Prev 2012, 21(4): 645-657
• Personalized Cancer Genomics: The Road Map to Clinical Implementation - Yousef GM. - Clinical Chemistry 2012; 58(4): 661-663.
• Getting a head start: the importance of personal genetics education in high schools - Kung and Gelbart - Yale J Biol Med. 2012, 85(1): 87-92.
• Schizophrenia Genetics: Putting All the Pieces Together - Girard et al. - Curr Neurol Neurosci Rep. 2012 Mar 30.
• Genetic basis for personalized medicine in asthma - Portelli M, Sayers I. - Expert Rev Respir Med. 2012; 6(2): 223-36.
• Genes, Environments, Personality, and Successful Aging: Toward a Comprehensive Developmental Model in Later Life - Eaton et al. - J Gerontol A Biol Sci Med Sci. 2012 Mar 27.
• Why schizophrenia genetics needs epigenetics: a review - Maric and Svrakic - Psychiatr Danub. 2012; 24(1): 2-18 (Free - pdf)
• Why schizophrenia genetics needs epigenetics: a review - Thibaut F. - Psychiatr Danub. 2012; 24(1): 25-7 (Free - pdf)
• Resolving the variable genome and epigenome in human disease - Knight JC. - J Intern Med. 2012; 271(4): 379-91 (Free)
• VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance - Sincan et al. - Human Mutation 2012, 33(4): 593-598
• KMD: A country-specific genetic variation resource for Korea - Smith TD. - Human Mutation 2012, 33(4): 5
• KMD: Korean mutation database for genes related to diseases - Park et al. - Human Mutation 2012, 33(4): E2332-E2340 (Free)
• UK Biobank opens its data vaults to researchers - BMJ 2012; 344:e2459 ( http://www.ukbiobank.ac.uk )
• Welcome to the biobank : Nature News Blog
• Genetics of atherosclerosis - Lusis AJ. - Trends Genet. 2012 Apr 3. [Epub ahead of print]
• Genome-wide studies of gene expression relevant to coronary artery disease - Hsu J, Smith JD. - Curr Opin Cardiol. 2012 Apr 3. [Epub ahead of print]
• Genetics, Gene-Environment-Interactions and Epigenetics in the Development of Depressive Disorders - Annette M. Klein and Heide Glaesmer - Psychother Psychosom Med Psychol. 2012, 62(3-4): 95-101 [Article in German]
• Association of a sequence variant in DAB2IP with coronary heart disease - Harrison et al. - Eur Heart J (2012) 33(7): 881-888
• Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene - ahanshad et al. - PNAS 2012, 109(14): E851–E859
• Human disease: Germline selection for deleterious mutation in males - Tanita Casci - Nature Reviews Genetics 2012, 13(4): 221
• The Abundance of Deleterious Polymorphisms in Humans - Subramanian S. - Genetics 2012, 190(4): 1579-1583
• Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy - Scheibye-Knudsen et al. - JEM 2012, 209(4): 855-869.
• The Human Variome Project Beijing meeting -- Smith et al. - J Med Genet 2012; 49(4): 284-289
• Special Issue on Genetics and Aging - J Gerontol A Biol Sci Med Sci (2012) 67A(5)
• Telegenetics: a systematic review of telemedicine in genetics services - Jennifer et al. - Hilgart et al. - Genet Med. 2012 Apr 12.
• Genetics for clinicians: From candidate genes to whole genome scans (technological advances) - Bochud M. - Best Pract Res Clin Endocrinol Metab. 2012; 26(2): 119-32.
• Genomics and Genetics of Human and Primate Y Chromosomes - Jennifer F. Huges and Steve Rosen - Annu Rev Genomics Hum Genet. 2012 Apr 5.
• UPDATED: 23 Apr 2012. Landmark study classifies breast cancer into 10 genetic types - Ingrid Torjesen - BMJ 2012;344:e2829
• Circulation: Cardiovascular Genetics 2012, Volume 5, Issue 2 (Table of Contents)
• How anonymous is ‘anonymous’? Some suggestions towards a coherent universal coding system for genetic samples -- Schmidt and Callier - J Med Ethics 2012; 38(5): 304-309
• Kraepelin Was Right: A Latent Class Analysis of Symptom Dimensions in Patients and Controls - Derks et al. - Schizophr Bull (2012) 38(3): 495-505
• Perceived Inheritance - Goldman - M.A. - Science 2012, 336(6079): 297-298 (Books et al.)
• Genetics and genomics in pediatric septic shock - Wong HR. - Crit Care Med. 2012; 40(5): 1618-26.
• Disease gene identification strategies for exome sequencing - Gissen et al. - Eur J Hum Genet 2012, 20(5): 490-497
• Using Genetic Information to Improve Health Now and in the Future - Public Health Genomics 2012, Vol. 15, No. 3-4 (Table of Content)
• Towards an evidence-based process for the clinical interpretation of copy number variation - Riggs et al. - Clinical Genetics 2012, 81(5): 403-412
• Biobank participation and returning research results: Perspectives from a deliberative engagement in South Side Chicago - Lemke et al. - Am J Med Genet A 2012, 158A(5): 1029-1037
• Deep Phenotyping for Precision Medicine - Human Mutation 2012, Volume 33, Issue 5 (Special Issue) Free
• Integration of global resources for human genetic variation and disease - Schofield et al. - Human Mutation 2012, 33(5): 813-816 (Free)

DYSMORPHOLOGY

• Normal Genetic Variation of the Human Foot: Part 2 - Quinn G. - J. Am. Podiatr. Med. Assoc. 2012, 102(2): 149-156
• The omega-6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor - Weiss et al. - Am J Med Genet 2012, 158A(4): 803-807
• Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis - Lubinsky et al. - Am J Med Genet 2012, 158A(4): 808-811
• Overlapping and Segregating Structural Brain Abnormalities in Twins With Schizophrenia or Bipolar Disorder - Hulshoff Pol et al. - Arch Gen Psychiatry. 2012; 69(4): 349-359.
• Congenital nasal obstruction: clinical and radiologic review - Adil et al. - Eur J Pediatr 2012, 171(4):641-650
• UPDATED: 23 Apr 2012. Aetiology of hypospadias: a systematic review of genes and environment - van der Zanden et al. - Hum. Reprod. Update (May/June 2012) 18(3): 260-283
• Cell biology of spinocerebellar ataxia - Harry T. Orr - JCB 2012, 197(2): 167-177 (Free)
• The Effect of Preterm Birth on Thalamic and Cortical Development - Ball et al. - Cereb. Cortex (2012) 22(5): 1016-1024 (Free)
• Genetic And Cellular Basis Of Cerebral Cavernous Malformations: Implications For Clinical Management - Bacigaluppi et al. - Clin Genet. 2012 Apr 17.
• Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis - Tonni et al. - Fetal Pediatr Pathol. 2012 Apr 16. [Epub ahead of print]

Molecular Dysmorphology

• Tau's role in the developing brain: implications for intellectual disability - Sapir et al. - Hum. Mol. Genet. (2012) 21(8): 1681-1692
• Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma - Liu et al. - Hum. Mol. Genet. (2012) 21(8): 1848-1860
• Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice - Malgorzata E. Quinn et al. - Hum. Mol. Genet. (2012) 21(8): 1888-1896
• Islet1 Derivatives in the Heart Are of Both Neural Crest and Second Heart Field OriginNovelty and Significance - Engleka et al. - Circulation Research. 2012; 110(7): 922-926
• A New Level of Complexity. A New Level of Complexity The Role of MicroRNAs in Cardiovascular Development - Boettger and Braun - Circulation Research. 2012; 110(7): 1000-1013
• Importance of Myocyte-Nonmyocyte Interactions in Cardiac Development and Disease - Tian and Morrisey - Circulation Research. 2012; 110(7): 1023-1034
• MicroRNAs and Glial Cell Development - Zheng et al. - Neuroscientist 2012, 18(2): 114-118
• A Novel GATA4 Loss-of-Function Mutation Associated With Congenital Ventricular Septal Defect - Yang et al. - Pediatric Cardiology 2012, 33(4): 539-546
• Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene - de Wijn et al. - Eur J Med Genet 2012, 55(3): 191-195
• Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts - Shi et al. - Am J Med Genet 2012, 158A(4): 784-794
• Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation - Tan et al. - Human Mutation 2012, 33(4): 720-727
• Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient - Lydie Burglen et al. - Orphanet Journal of Rare Diseases 2012, 7:18 (Open Access)
• Age-associated DNA methylation in pediatric populations - Alisch et al. - Genome Res. 2012, 22(4): 623-632 (Open Access)
• Role of Copy Number Variants in Structural Birth Defects - Southard et al. - Pediatrics 2012; 129(4): 755-763
• PDGFRa mutations in humans with isolated cleft palate - Rattanasopha et al. - Eur J Hum Genet advance online publication, April 4, 2012
• Keratinocytic epidermal nevi are associated with mosaic RAS mutations -- Hafner et al. - J Med Genet 2012; 49(4): 249-253
• Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele -- Radhakrishna et al. - J Med Genet 2012; 49(4): 270-276
• Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus - Radhakrishna et al. - Eur J Hum Genet advance online publication, April 11, 2012
• UPDATED: 23 Apr 2012. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations - Letra et al. - J DENT RES 2012, 91(5): 473-478
• Exome Analysis of a Family With Pleiotropic Congenital Heart DiseaseClinical Perspective - Arrigton et al. - Circ Cardiovasc Genet. 2012; 5(2): 175-182
• Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? -- Hogg and Bush - Thorax 2012; 67(5): 377-378
• Double Heterozygous Germline HNF1A Mutations in a Patient With Liver Adenomatosis - Jeannot et al. - Diabetes Care 2012, 35(5): e35
• A novel nonsense mutation in PAX9 is associated with sporadic hypodontia - Zhu et al. - Mutagenesis (2012) 27(3): 313-317
• Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women - Chang et al. - Reprod Biomed Online. 2012 Mar 18. [Epub ahead of print]
• Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects - Liu et al. - Eur J Hum Genet 2012, 20(5): 516-520
• Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects - Zhu et al. - Am J Med Genet A 2012, 158A(5): 1124-134
• Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure - Rogers et al. - Am J Med Genet A 2012, 158A(5): 1135-1144
• Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene - Castori et al. - Am J Med Genet A 2012, 158A(5): 1164-1169

Epidemiology of the Birth Defects

• The minimum prevalence of CADASIL in northeast England - Narayan et al. - Neurology 2012, 78(13): 1025-1027
• Analysis of skeletal dysplasias in the Utah population - Stevenson et al. - Am J Med Genet A. 2012 Mar 27.
• UPDATED: 23 Apr 2012. Clinical epidemiology of skeletal dysplasias in South America - Barbosa-Buck et al. - Am J Med Genet A 2012, 158A(5): 1038-1045
• Analysis of skeletal dysplasias in the Utah population - Stevenson et al. - Am J Med Genet A 2012, 158A(5): 1046-1054
• Consanguinity and the risk of congenital heart disease - Shieh et al. - Am J Med Genet A 2012, 158A(5): 1236-1241

Minor Anomalies

• Minor physical abnormalities and clinical features in patients with schizophrenia spectrum disorders - Franco et al. - Rev Neurol. 2012; 54(8): 468-74. [Article in Spanish]
• UPDATED: 23 Apr 2012. Principles of phenomics in endometriosis - Vigano et al. - Hum. Reprod. Update 2012, 18(3): 248-259
• Speckled lentiginous nevus: sometimes, but not always, part of a syndrome - Daniele Torchia and Lawrence A. Schachner - Neurol Sci. 2012; 33(2): 477 (No Abstract)
• The face in congenital melanocytic nevus syndrome - Veronica Kinsler et al. - Am J Med Genet A 2012, 158A(5): 1014-1019
• Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype - Nowaczyk et al. - Am J Med Genet A 2012, 158A(5): 1020-1028

SYNDROMOLOGY

• Old and New Entities with Rett or Angelman Syndrome-Like Intellectual Disability - Molecular Syndromology 2012, Vol. 2, No. 4 (Table of Content)
• Agenesis of Corpus Callosum and Associated Malformations - Hahn et al. - Neoreviews 2012; 13(4): e224-e232
• Cystic fibrosis: a mucosal immunodeficiency syndrome - Cohen TS, Prince A. - Nat Med. 2012; 18(4): 509-19.
• Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery - Lubs et al. - Am J Hum Genet 2012, 90(4): 579-590
• A Novel Craniofacial Osteogenesis Distraction System Enabling Control of Distraction Distance and Vector for the Treatment of Syndromic Craniosynostosis - Kobayashi, Shinji et al. - Journal of Craniofacial Surgery 2012, 23(2): 422-425
• UPDATED: 23 Apr 2012. Mitochondrial diseases - Schapira AHV. - Lancet. 2012 Apr 4. [Epub ahead of print]
• Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile - Fisch et al. - Am J Intellect Dev Disabil. 2012; 117(2): 167-79.

Molecular Syndromology

• Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome - Badolato et al. - Blood 2012, 119(13): 3185-7 (No Abstract)
• A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy - Giovanniello et al. - J Child Neurol 2012, 27(4): 523-525
• Mutation update on the CHD7 gene involved in CHARGE syndrome - Janssen et al. - Hum Mutat. 2012 Mar 27.
• PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring - Hellebrekers et al. - Hum Reprod Update. 2012 Mar 28.
• PTEN Hamartoma of Soft Tissue: A Distinctive Lesion in PTEN... : The American Journal of Surgical Pathology - Kurek et al. - Am J Surg Pathol. 2012 Mar 25.
• Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome - Wang et al. - Laryngoscope. 2012 Mar 23.
• Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome - Tsurusaki et al. - Nature Genetics 2012, 44(4): 376–378
• Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome - Santen et al. - Nature Genetics 2012, 44(4): 379-380
• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia - Mitchison et al. - Nature Genetics 2012, 44(4): 381-389
• Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome - Albers et al. - Nature Genetics 2012, 44(4): 435-439
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome - Riviere et al. - Nature Genetics 2012, 44(4): 440-444
• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome - Van Houdt et al. - Nature Genetics 2012, 44(4): 445-449
• Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients - Sørensen et al. - Am J Med Genet 2012, 158A(4): 720-725
• A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain - Hu et al. - Am J Med Genet 2012, 158A(4): 726-731
• Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system - Denadai et al. - Am J Med Genet 2012, 158A(4): 732-742
• TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients - Cho et al. - Am J Med Genet 2012, 158A(4): 795-802
• Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation - Butler et al. - Am J Med Genet 2012, 158A(4): 839-849
• Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7 - Kantaputra et al. - Am J Med Genet 2012, 158A(4): 909-916
• Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations - Magini et al. - Am J Med Genet 2012, 158A(4): 917-921
• De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction - Zampatti et al. - Am J Med Genet 2012, 158A(4): 927-931
• Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders - Duong et al. - Am J Med Genet 2012, 159B(3): 354-358
• An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia - Dias et al. - Human Mutation 2012, 33(4): 614-626 (Free)
• Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity - Daniel et al. - Human Mutation 2012, 33(4): 665-673 (Free)
• Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair - Ferrero et al. - Human Mutation 2012, 33(4): 703-709 (Free)
• Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features - Lamb et al. - Human Mutation 2012, 33(4): 728-740
• Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis - Upadhyaya et al. - Human Mutation 2012, 33(4): 763-776
• Genetics of adrenocortical disease: an update - Bar-Lev A, Annes JP. - Curr Opin Endocrinol Diabetes Obes. 2012 Apr 3. [Epub ahead of print]
• Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation - Jain et al. - Neurology 2012, 78(14): 1100-1103
• Microsatellite Instability and DNA Mismatch Repair Protein Deficiency in Lynch Syndrome Colorectal Polyps - Yurgelun et al. - Cancer Prev Res 2012, 5(4): 574-582
• The Role of Tuberous Sclerosis Complex 1 in Regulating Innate Immunity - Pan et al. - J Immunol 2012, 188(8): 3658-3666
• Regulation of mast cell survival and function by tuberous sclerosis complex 1 - Shin et al. - Blood 2012, 119(14): 3306-3314
• The Werner Syndrome Exonuclease Facilitates DNA Degradation and High Fidelity DNA Polymerization by Human DNA Polymerase δ - Kamath-Loeb et al. - J. Biol. Chem. 2012, 287(15): 12480-12490.
• Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia - Raivio et al. - JCEM 2012, 97(4): E694-E699
• The phenotype associated with a large deletion on MECP2 - Bebbington et al. - Eur J Hum Genet. 2012 Apr 4.
• Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts - Olga Camacho-Vanegas et al. - Am J Hum Genet 2012, 90(4): 614-627
• Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish - Asharani et al. - Am J Hum Genet 2012, 90(4): 661-674
• Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome - Ng et al. - Am J Hum Genet 2012, 90(4): 685-688
• Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population - Srour et al. - Am J Hum Genet 2012, 90(4): 693-700
• Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome - Anna Schossig et al. - Am J Hum Genet 2012, 90(4): 701-707
• Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis - Caroline Michot et al. - Am J Hum Genet 2012, 90(4): 740-745
• TBX22 Mutation Associated With Cleft Lip/Palate, Hypodontia, and Limb Anomaly - Kaewkhampa et al. - The Cleft Palate-Craniofacial Journal 2012, 49(2): 240-244
• Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain - Belar et al. - Clinical Endocrinology 2012, 76(5): 719-724
• Age-Dependent Structural Connectivity Effects in Fragile X Premutation - Wang et al. - Arch Neurol. 2012;69(4):482-489.
• An SNX10 mutation causes malignant osteopetrosis of infancy -- Aker et al. - J Med Genet 2012; 49(4): 221-226
• NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases -- El Hokayem et al. - J Med Genet 2012; 49(4): 227-233
• Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes -- Shamseldin et al. - J Med Genet 2012; 49(4): 234-241
• A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene -- Khalifa et al. - J Med Genet 2012; 49(4): 246-248
• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing -- Haack et al. - J Med Genet 2012; 49(4): 277-283
• Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome - Squillaro et al. - Mol. Biol. Cell 2012, 23(8): 1435-1445
• AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome - Carolyn M. Yrigollen et al. - Genet Med. 2012 Apr 12.
• Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val - Burkitt-Wright et al. - Am J Med Genet A 2012, 158A(5): 1102-1110
• Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus - Perez-Nanclares et al. - J Clin Endocrinol Metab. 2012 Apr 4.
• Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype - Gripp et al. - Am J Med Genet A. 2012 Apr 9.
• Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2 - Ariss et al. - Ophthalmic Genet. 2012 Apr 9. [Epub ahead of print]
• Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation - Knah et al. - Ophthalmic Genet. 2012 Apr 9. [Epub ahead of print]
• UPDATED: 23 Apr 2012. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure -- Knowles et al. - Thorax 2012; 67(5): 433-441
• SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development - Ногп et al. - Hum. Reprod. (2012) 27(5): 1460-1465
• Mutations in GRIP1 cause Fraser syndrome -- Vogel et al. - J Med Genet. 2012 Apr 17. [Epub ahead of print]
• High Frequency of Germline SUFU Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age - Brugières et al. - J Clin Oncol. 2012 Apr 16. [Epub ahead of print]
• Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies - Delahaye et al. - European Journal of Human Genetics (2012) 20(5): 527–533
• Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes - Leger et al. - Eur J Hum Genet 2012, 20(5): 584-587
• Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis - Wang et al. - Clinical Genetics 2012, 81(5): 443-452
• Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds - Wentink et al. - Clinical Genetics 2012, 81(5): 453-461
• Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood - Sasa et al. - Clinical Genetics 2012, 81(5): 470-478
• Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features - Lin et al. - Am J Med Genet A 2012, 158A(5): 1005-1013
• Reduced telomere length in individuals with FMR1 premutations and full mutations - Jenkins et al. - Am J Med Genet A 2012, 158A(5): 1060-1065
• KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis - Brasil et al. - Am J Med Genet A 2012, 158A(5): 1178-1184
• Somatic mosaicism and the phenotypic expression of COL2A1 mutations - Nagendran et al. - Am J Med Genet A 2012, 158A(5): 1204-1207

Animal Models of Human Syndromes

• Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome - Braun et al. - Hum. Mol. Genet. (2012) 21(8): 1673-1680
• Impaired neural development in a zebrafish model for Lowe syndrome - Irene Barinaga-Rementeria Ramirez et al. - Hum. Mol. Genet. (2012) 21(8): 1744-1759 (Free)
• Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases - de Pablo-Latorre et al. - Hum. Mol. Genet. (2012) 21(8): 1770-1781 (Free)
• Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies - Ashe et al. - Hum. Mol. Genet. (2012) 21(8): 1808-1823 (Free)
• Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome - Swetha K. Godavarthi et al. - Hum. Mol. Genet. (2012) 21(8): 1824-1834 (Free)
• The Lowe syndrome protein OCRL1 is involved in primary cilia assembly - Coon et al. - Hum. Mol. Genet. (2012) 21(8): 1835-1847
• Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis - Rachel et al. - J Clin Invest. 2012; 122(4):1233–1245 (Open Access)
• A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome - Mory et al. - Am J Hum Genet 2012, 90(4): 708-714
• Primary epimutations introduced during intracytoplasmic sperm injection (ICSI) are corrected by germline-specific epigenetic reprogramming - Eric de Waal et al. - Proc Natl Acad Sci U S A. 2012; 109(11): 4163-8.

CHROMOSOMAL ANOMALIES

• Unexpected results in the constitution of small supernumerary marker chromosomes - Vetro et al. - Eur J Med Genet 2012, 55(3): 185-190
• Balanced complex chromosome rearrangements: Reproductive aspects. A review - Madan K. - Am J Med Genet 2012, 158A(4): 947-963
• New technologies for the assessment of chromosomes in prenatal diagnosis - Lisa G. Shaffer and Van den Veyver - Prenatal Diagnosis 2012, 32(4): 307-308 (Free)
• Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis - Willis et al. - Prenatal Diagnosis 2012, 32(4): 315-320
• QF-PCR: application, overview and review of the literature - Mann and Ogilvie - Prenatal Diagnosis 2012, 32(4): 309-314
• Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization - Ho et al. - Prenatal Diagnosis 2012, 32(4): 321-328
• Genomic microarrays: a technology overview - Brady and Vermeesch - Prenatal Diagnosis 2012, 32(4): 336-343
• Referral patterns for microarray testing in prenatal diagnosis - Lisa G. Shaffer et al. - Prenatal Diagnosis 2012, 32(4): 344-350
• Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature - Breman et al. - Prenatal Diagnosis 2012, 32(4): 351-361
• Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience - Faas et al. - Prenatal Diagnosis 2012, 32(4): 362-370
• Chromosomal instability and cancer: a complex relationship with therapeutic potential - Bakhoum and Compton - J. Clin. Invest. (2012) 122(4): 1138-1143
• Extrachromosomal MicroDNAs and Chromosomal Microdeletions in Normal Tissues - Shibata et al. - Science 2012, 436(6077): 82-86
• UPDATED: 23 Apr 2012. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe - Wellesley et al. - Eur J Hum Genet 2012, 20(5): 521-526 (Free)

Chromosomal Disorders: Well-Known Syndromes

• Turner syndrome isochromosome karyotype correlates with decreased dental crown width - Rizell et al. - Eur J Orthod (2012) 34(2): 213-218
• Cephalometric analysis of pharyngeal airway space dimensions in Turner syndrome - Eklund et al. - Eur J Orthod (2012) 34(2): 219-225
• Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys - Martinerie et al. - Eur J Endocrinol 2012, 166(4): 687-694
• Neuroinflammation in the Aging Down Syndrome Brain; Lessons from Alzheimer's Disease - Donna M. Wilcock - Curr Gerontol Geriatr Res. 2012; 2012:170276 (Free)
• Clinical and radiological findings in Pallister–Killian syndrome - Jamuar et al. - Eur J Med Genet 2012, 55(3): 167-172
• Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature - Laus et al. - Am J Med Genet 2012, 158A(4): 821-827
• Hepatoblastoma in a Mosaic Trisomy 18 Patient - Pereira et al. - J Pediatr Hematol Oncol. 2012 Mar 30.
• Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome - Ross et al. - Pediatrics 2012; 129(4): 769-778
• Tuberculous radiculomyelitis presenting as urinary retention in a child with Down’s syndrome -- Sridhar et al. - BMJ Case Reports Published 3 April 2012
• Low frequency of type-I and type-II aberrations in myeloid leukemia of Down syndrome, underscoring the unique entity of this disease - Blink et al. - Haematologica 2012, 97(4): 632-634
• The Interactive Effect of GHR-Exon 3 and −202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome - Braz et al. - JCEM 2012, 97: E671-E677
• Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer’s Disease in Women with Down Syndrome - Lee et al. - Curr Gerontol Geriatr Res. 2012; 2012: 361218 (Free)
• Seizures and EEG patterns in Pallister–Killian syndrome: 13 New Italian patients - Giordano et al. - Eur J Paediatr Neurol. 2012 Mar 28. [Epub ahead of print]
• The Spectrum of Pulmonary Malformation in Trisomy-21 Patient. A Review with Emphasis on the Molecular-Genetic Basis - Salinas et al. - Fetal Pediatr Pathol. 2012 Apr 12.
• Tracking Subtle Stereotypes of Children with Trisomy 21: From Facial-Feature-Based to Implicit Stereotyping - Enea-Drapeau et al. - PLoS One. 2012; 7(4): e34369 (Open Access)
• UPDATED: 23 Apr 2012. Failure of Marfan anatomic criteria to predict risk of aortic dissection in Turner syndrome: necessity of specific adjusted risk thresholds - Mauteira et al. - Interact CardioVasc Thorac Surg (2012) 14(5): 610-614
• Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome - Marignier et al. - Eur J Med Genet. 2012 Mar 28. [Epub ahead of print]
• Disappearance of Left Ventricular Hypertrabeculation/Noncompaction and Sudden Death in a Patient With Turner Mosaic Syndrome - Altenberger et al. - Am J Cardiol. 2012 Apr 12. [Epub ahead of print]
• Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome - Gravholt et al. - Clinical Endocrinology 2012, 76(5): 649-656
• A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome - Hannes et al. - Am J Med Genet A 2012, 158A(5): 996-1004
• Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype - Kvarnung et al. - Am J Med Genet A 2012, 158A(5): 1111-1117
• Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004–2009 - Alberman et al. - Am J Med Genet A 2012, 158A(5): 1145-1150
• Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009 - Morris et al. - Am J Med Genet A 2012, 158A(5): 1151-1157

Microdeletion-Microduplication syndromes

• Functional Gene-Expression Analysis Shows Involvement of Schizophrenia-Relevant Pathways in Patients with 22q11 Deletion Syndrome - Nico et al. - PLoS One. 2012; 7(3): e33473. (Free)
• 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay - Rashidi-Nezhad et al. - Eur J Med Genet 2012, 55(3): 203-210
• A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome - Hoefele et al. - Eur J Med Genet 2012, 55(3): 211-215
• 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment - Marseglia et al. - Eur J Med Genet 2012, 55(3): 216-221
• 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism - Belligni et al. - Eur J Med Genet 2012, 55(3): 222-224
• Clinical description of a patient carrying the smallest reported deletion involving 10p14 region - Melis et al. - Am J Med Genet 2012, 158A(4): 832-835
• Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature - Motobayashi et al. - Am J Med Genet 2012, 158A(4): 861-868
• Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients - Szabó et al.- Am J Med Genet 2012, 158A(4): 869-876
• Neonatal detection of 5p13.2 duplication and delineation of the phenotype - Romero et al. - Am J Med Genet 2012, 158A(4): 877-881
• De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features - Fabretto et al. - Am J Med Genet 2012, 158A(4): 882-887
• Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion - Marangi et al. - Am J Med Genet 2012, 158A(4): 888-893
• The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) - Phelan and McDermid - Molecular Syndromology 2011; 2(4): 186-201
• Update on Kleefstra Syndrome - Willemsen et al. - Molecular Syndromology 2011; 2(4): 202-212
• A phenotype map for 14q32.3 terminal deletions - Engels et al. - Am J Med Genet 2012, 158A(4): 695-706
• Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment - Su et al. - Am J Med Genet 2012, 158A(4): 707-712
• A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2–q22.1 with complex translocation t(8;20) in a family with intellectual disability - Assawamakin et al. - Am J Med Genet 2012, 158A(4): 901-908
• Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype - Jezela-Stanek et al. - Am J Med Genet 2012, 158A(4): 922-926
• An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14) - Toral-López et al. - Am J Med Genet 2012, 158A(4): 942-946
• The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function - Jabbi et al. - PNAS 2012, 109(14): E860–E866
• Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis - Rafati et al. - Clin Dysmorphol. 2012 Apr 1. [Epub ahead of print]
• Understanding motor acts and motor intentions in Williams syndrome - Laura Sparaci et al. - Neuropsychologia. 2012 Mar 24. [Epub ahead of print]
• Complex autism spectrum disorder in a patient with a 17q12 microduplication - Brandt et al. - Am J Med Genet A 2012, 158A(5): 1170-1177
• Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing - Itsara et al. - Am J Hum Genet 2012, 90(4): 599-613
• Clinical and molecular characterization of a second case of 7p22.1 microduplication - Preiksaitiene et al. - Am J Med Genet A 2012, 158A(5): 1200-1203
• 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility - Madrigal et al. - Am J Med Genet A. 2012 Apr 9.
• COMT implication in Cognitive and Psychiatric Symptoms in Chromosome 22q11 Microdeletion Syndrome: a Selective Review - Armando et al. - CNS Neurol Disord Drug Targets. 2012 Apr 3.
• UPDATED: 23 Apr 2012. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother - Anne-Claude Tabet et al. - Eur J Hum Genet 2012, 20(5): 540-546
• Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay - Amouroux et al. - Eur J Hum Genet 2012, 20(5): 580-583
• Microdeletion 19p13.2 in an almost 5-year-old boy - Haberlandt et al. - Am J Med Genet A 2012, 158A(5): 1190-1194
• A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome - Holder et al. - Am J Med Genet A, Article first published online: 9 APR 2012

CLINICAL SYNDROMOLOGY

• Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management - Mehta P. - JAMA 2012; 307(12): 1319. Book and Media Reviews
• Syndromes Predisposing to Pediatric Central Nervous System Tumors: Lessons Learned and New Promises - Anita Villani et al. - Current Neurology and Neuroscience Reports 2012, 12(2): 153-164
• Congenital Myopathies: An Update - Jessica R. Nance et al. - Current Neurology and Neuroscience Reports 2012, 12(2): 165-174
• 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations - Potic et al. - Arch Neurol. 2012 Mar 26.
• Congenital Long-QT Syndrome in Addison’s Disease: A Novel Association - Lang et al. - Pediatric Cardiology 2012, 33(4)
• Audiological findings in Williams syndrome: A study of 69 patients - Barozzi et al. Am J Med Genet 2012, 158A(4): 759-771
• Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations - Capalbo et al. - Am J Med Genet 2012, 158A(4): 856-860
• MECP2 Duplication Syndrome - H. Van Esch - Mol Syndromol 2012
• Pitt-Hopkins Syndrome - Peippo and Ignatius - Molecular Syndromology 2011; 2(4): 171-180
• Fitzpatrick's Color Atlas & Synopsis of Clinical Dermatology, 6e edition
• Genetics of neuromuscular disorders - Nigel G. Laing - Crit Rev Clin Lab Sci. 2012; 49(2): 33-48.
• Subclinical myocardial dysfunction in Rett syndrome - De Felice et al. - Eur Heart J Cardiovasc Imaging (2012) 13(4): 339-345
• Genetic and Epileptic Features in Rett Syndrome - Kim et al. - Yonsei Med J. 2012; 53(3): 495-500 (Free)
• Clinical and Genetic Characteristics of Autoimmune Polyglandular Syndrome Type 3 Variant in the Japanese Population - Horie et al. - J Clin Endocrinol Metab. 2012 Mar 30.
• Congenital and infantile cataract: aetiology and management - Chan et al. - Eur J Pediatr 2012, 171(4): 625-630
• Parental infertility, infertility treatment and hepatoblastoma: a report from the Children's Oncology Group - Susan E. Puumala et al. - Hum Reprod. 2012 Apr 3. [Epub ahead of print]
• Genetic aspects of adrenocortical tumours - Mazzuco et al. - Clin Endocrinol (Oxf). 2012 Apr 4.
• A unique case of synchronous functional adrenocortical adenoma and myelolipoma within the ectopic adrenal cortex in a child with Beckwith–Wiedemann syndrome - Izilda A. Cardinalli et al. - Pathol Res Pract. 2012; 208(3): 189-94.
• Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature - Kadouch et al. - Int J Oral Maxillofac Surg. 2012; 41(3): 300-8.
• Working up autism: The practical role of medical genetics - Gurrieri F. - Am J Med Genet C Semin Med Genet. 2012 Apr 12.
• Mining and modeling human genetics for autism therapeutics - Smith and Ehlers - Curr Opin Neurobiol. 2012 Apr 4.
• Reversible autism and intellectual disability in children - Zappella M. - Am J Med Genet C Semin Med Genet. 2012 Apr 12.
• Beckwith-Wiedemann Syndrome, Delayed Abdominal Wall Closure, and Neonatal Intussusception –Case Report and Literature Review - Moreira-Pinto et al. - Fetal Pediatr Pathol. 2012 Apr 9.
• UPDATED: 23 Apr 2012. PLA2G6-Associated Neurodegeneration - Gregory et al. - GeneReviews™
• An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader–Willi Syndrome - Rout et al. - Med Hypotheses. 2012; 78(4): 462-464.
• Clinical utility gene card for: Nemaline myopathy - Nowak et al. - European Journal of Human Genetics advance online publication 18 April 2012
• Aicardi–Goutieres syndrome: from patients to genes and beyond - C. Chahwan and R. Chahwan - Clinical Genetics 2012, 81(5): 413-420
• Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient - El-Chammas et al. - Am J Med Genet A 2012, 158A(5): 1208-1211

Dysmetabolic Syndromes

• An Unusual Presentation of Juvenile Alexander Disease - Osorio et al. - J Child Neurol 2012, 27(4): 507-510
• Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia - Kibe et al. - Brain Dev. 2012 Mar 24. [Epub ahead of print]
• Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation - Aggarwal et al. - Eur J Med Genet 2012, 55(3): 173-177
• Cystinuria: an inborn cause of urolithiasis - Eggermann et al. - Orphanet Journal of Rare Diseases 2012, 7:19 (Open Access)
• Long-term follow-up of four patients affected by HHH syndrome - Kim et al. - Clin Chim Acta. 2012 Mar 23.
• Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls - Barbara K. Burton and Roberto Giugliani - Eur J Pediatr 2012, 171(4): 631-639 (Open Access)
• Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase - Jovic et al. - Mol. Biol. Cell 2012, 23(4): 8 1533-1545
• Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges - Desnick and Schuchman - Annual Review of Genomics and Human Genetics, Volume 13 is August 31, 2012
• Phenotypic diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematological malignancy phenotype by individual genome analysis - Lo et al. - Blood. 2012 Apr 4. [Epub ahead of print]
• Severe phenotype in MPS II patients associated with a large deletion including contiguous genes - Ana Carolina Brusius-Facchin et al. - Am J Med Genet A 2012, 158A(5): 1055-1059
• UPDATED: 23 Apr 2012. HFE-Associated Hereditary Hemochromatosis - Kowdley et al. - GeneReviews™
• X-Linked Adrenoleukodystrophy - Steinberg et al. - GeneReviews™
• Serum ‘free’ copper in Wilson disease - Walshe J.M. - QJM (2012) 105(5): 419-423
• Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C - Wijburg et al. - Neurology. 2012 Apr 18. [Epub ahead of print]
• A series of pregnancies in women with inherited metabolic disease - Langendonk et al. - J Inherit Metab Dis 2012, 35(3): 419-424
• Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms - Bruha et al. - J Inherit Metab Dis 2012, 35(3): 541-548
• Oxidative stress in Phenylketonuria: future directions - Júlio César Rocha and Maria João Martins - J Inherit Metab Dis 2012, 35(3): 381-398
• Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey - Ramaswami et al. - Clinical Genetics 2012, 81(5): 485-490
• Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation - Sohn et al. - Am J Med Genet A 2012, 158A(5): 1158-1163

Dyshistogenetic Syndromes

• Blue Sclerae - Munoz and Hanbali - JAMA 2012; 307(12): 1310-1311.
• Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome - Ullrich et al. - Am J Neuroradiol. 2012 Mar 29.
• Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome - Mahamid et al. - Pediatr Cardiol. 2012 Mar 24.
• Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases - O'Connor and Collins - Pediatric Cardiology 2012, 33(4): 491-492
• Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation - Voermans et al. - Am J Med Genet 2012, 158A(4): 805-855
• Early-onset osteoarthritis in Ehlers–Danlos syndrome type VIII - Reinstein et al. - Am J Med Genet 2012, 158A(4): 938-941
• Primary Hyperparathyroidism in MEN1 Patients: Preferred Surgical Procedure and Relation With Genotype - a Cohort Study With Long-Term Follow-Up - Pieterman et al. - Ann Surg. 2012 Mar 30. [Epub ahead of print]
• Blue Rubber Bleb Nevus Syndrome: Successful Treatment With Sirolimus - Yuksekkaya et al. - Pediatrics 2012; 129(4): e1080-e1084
• Diagnosing Lynch Syndrome: More Light at the End of the Tunnel - Burt RW - Cancer Prev Res 2012, 5(4): 507-510
• Serum 24,25-Dihydroxyvitamin D Concentrations in Osteogenesis Imperfecta: Relationship to Bone Parameters - Edouard et al. - JCEM 2012, 97(4): 1243-1249
• Clinical Utility of Functional Imaging with 18F-FDOPA in Von Hippel-Lindau Syndrome - Weisbrod et al. - JCEM 2012, 97(4): E613-E617
• Simplified identification of Lynch syndrome: A prospective, multicenter study - Bonnet et al. - Dig Liver Dis. 2012 Apr 3. [Epub ahead of print]
• Inflammation Aggravates Disease Severity in Marfan Syndrome Patients - Teodora Radonic et al. - PLoS One. 2012; 7(3): e32963 (Open Access)
• End stage renal disease, differential diagnosis, a rare genetic disorder: Bardet-Biedl syndrome: case report and review - Sowjanya et al. - Indian J Clin Biochem. 2011; 26(2): 214-6 (Free)
• Choroid plexus tumors; management, outcome, and association with the Li–Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991–2010 - Gozali et al. - Pediatric Blood & Cancer 2012, 58(6): 905-908
• Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database - Sakurai et al. - Clinical Endocrinology 2012, 76(4): 533-539
• Orthognathic surgery in Melnick–Needles-Syndrome. Case report and review of the literature - Jung et al. - Int J Oral Maxillofac Surg. 2012; 41(3): 309-312.
• Incidence of Abdominal Tumors in Syndromic and Idiopathic Hemihypertrophy/Isolated Hemihyperplasia - Dempsey-Robertson et al. - J Pediatr Orthop. 2012; 32(3): 322-6.
• Life expectancy in hereditary cancer predisposing diseases: an observational study -- Wilding et al. - J Med Genet 2012; 49(4): 264-269
• Neurofibromatosis and Velopharyngeal Insufficiency: Is There an Association? - Zhang et al. - J Otolaryngol Head Neck Surg. 2012; 41(1): 58-64.
• Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study -- Ferré et al. - BMJ Open. 2012; 2(2): e000705 (Free)
• Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation - Kuppler et al. - Am J Med Genet A 2012, 158A(5): 1212-1215
• Grebe syndrome: a rare association with congenital heart disease - Jalil et al. - J Coll Physicians Surg Pak. 2012; 22(4):261-3.
• UPDATED: 23 Apr 2012. Valve-sparing replacement of the ascending aorta and aortic arch in a child with Loeys–Dietz syndrome - Emre Özker et al. - Eur J Cardiothorac Surg (2012) 41(5): 1184-1185
• Total arch replacement procedure in a child with Loeys–Dietz syndrome - Douglas WI. - Eur J Cardiothorac Surg (2012) 41(5): 1186
• Geleophysic Dysplasia - Carine Le Goff and Valerie Cormier-Daire - GeneReviews™
• PTEN Hamartoma Tumor Syndrome (PHTS) - Eng C. - GeneReviews™
• Clinical and laboratory findings in 8 patients with Bloom's syndrome - Masmoudi et al. - J Dermatol Case Rep. 2012; 6(1): 29-33.
• Phenotype and Polyp Landscape in Serrated Polyposis Syndrome... : The American Journal of Surgical Pathology - Rosty et al. - Am J Surg Pathol. 2012 Apr 16. [Epub ahead of print]
• Genotype and cognitive phenotype of patients with tuberous sclerosis complex - van Eeghen et al. - European Journal of Human Genetics (2012) 20(5): 510–515
• Clinical utility gene card for: Werner syndrome - Hisama et al. - Eur J Hum Genet 2012, 20(5)
• CUGC for Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) - Juliette Albuisson et al. - European Journal of Human Genetics advance online publication 18 April 2012
• The new Ghent criteria for Marfan syndrome: what do they change? - Faivre et al. - Clinical Genetics 2012, 81(5): 433-442
• Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies - Aalberts et al. - Am J Med Genet A, 158A(5): 982-988
• A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population - Yang et al. - Am J Med Genet A 2012, 158A(5): 989-995
• Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey - Abe et al. - Am J Med Genet A 2012, 158A(5): 1083-1094
• Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome - Stevens et al. - Am J Med Genet A 2012, 158A(5): 1195-1199
• Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation - Désir et al. - Am J Med Genet A, Article first published online: 11 APR 2012

Malformation Syndromes

• Multidisciplinary treatment approach in Treacher Collins syndrome - Hylton et al. - J Dent Child (Chic). 2012; 79(1): 15-21.
• Joubert Syndrome and Related Disorders - Melissa Parisi and Ian Glass - GeneReviews™
• Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum - Takenouchi et al. - Am J Med Genet 2012, 158A(4): 812-815
• Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene - Fernández et al. - Am J Med Genet 2012, 158A(4): 816-820
• Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study - Blake et al. - Am J Med Genet 2012, 158A(4): 828-831
• Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome - Husu et al. - Clin Genet. 2012 Mar 29.
• Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance - Mansour et al. - Eur J Hum Genet advance online publication, April 4, 2012
• Facial Growth in Patients With Apert and Crouzon Syndromes Compared to Normal Children - Reitsma et al. - The Cleft Palate-Craniofacial Journal 2012, 49(2): 185-193
• Characteristics of autism spectrum disorder in Cornelia de Lange syndrome - Moss et al. - J Child Psychol Psychiatry. 2012 Apr 10.
• Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association) - Mariana de Almeida Pinto Borges et al. - Rev Bras Ginecol Obstet. 2012; 34(3):133-8 [Article in Portuguese]
• UPDATED: 23 Apr 2012. PHACES syndrome -- Mahadi et al. - Arch Dis Child Fetal Neonatal Ed 2012; 97(3): F209-F210 (Images in neonatal medicine)
• Sirenomelia and caudal malformations in two families - Gerard et al. - Am J Med Genet A, Article first published online: 20 APR 2012

• Congenital Cystic Lesions of the Biliary Tree - Santiago et al. - AJR 2012, 198(4): 825-835
• Incidence of Ovarian Maldescent in Women With Müllerian Duct Anomalies: Evaluation by MRI - Allen et al. - AJR 2012, 198(4): W381-W385
• Fetal Opercular Cavernous Angioma Causing Cerebral Cleft - Sarnat et al. - J Child Neurol 2012, 27(4): 478-484
• Chiari 2 Without Spinal Dysraphism: Does It Blow a Hole in the Pathogenesis? - Citton et al. - J Child Neurol 2012, 27(4): 536-539
• Risk factors for nonsyndromic holoprosencephaly: A Manitoba case–control study - Vaz et al. - Am J Med Genet 2012, 158A(4): 751-758
• Update on the keratoconus genetics - Nielsen et al. - Acta Ophthalmol. 2012 Apr 4.
• Meckel’s diverticulum causing severe hemorrhage - Esposito et al. - Eur J Pediatr 2012, 171(4): 733-734
• Bietti Crystalline Dystrophy - Krystle A Okialda et al. - GeneReviews™
• Susceptibility-Weighted MR Imaging for Diagnosis of Capillary Telangiectasia of the Brain - El-Koussy et al. - Am J Neuroradiol 2012, 33(4): 715-720
• Neuroradiologic Correlates of Cognitive Impairment in Adult Moyamoya Disease - Mogensen et al. - Am J Neuroradiol 2012, 33(4): 721-725
• Familial association of femoral trochlear dysplasia with recurrent bilateral patellar dislocation - Rebolledo et al. - Orthopedics. 2012; 35(4):e574-9.
• UPDATED: 23 Apr 2012. Autosomal Recessive Congenital Ichthyosis - Gabriele Richard and Sherri J Bale - GeneReviews™
• Leber Hereditary Optic Neuropathy - Yu-Wai-Mam et al. - GeneReviews™
• An infant with caudal appendage -- Shad and Biswas - BMJ Case Reports Published 18 April 2012
• Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics - Laine et al - Am J Med Genet A, Article first published online: 17 APR 2012