ACMG SUGGESTS WIDESPREAD SMA CARRIER SCREENING
SMA SCREENING:
STOP SCREENING FOR UNTREATABLE DISORDERS?
BACKGROUND
STUDY FINDS MUTATIONS IN PATIENTS WITH TYPE 1 FIBRILLINOPATHY
CGH DETECTS CHROMOSOMAL ABNORMALITY OF PKS IN BLOOD
CHROMOSOME 13 DELETIONS BETTER CHARACTERIZED
Does Paternal Exposure to Agent Orange Cause Birth Defects?
Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: A Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome
Etiology of Nonimmune Hydrops Fetalis: A Systematic Review
A Diagnostic Flow Chart for Non-Immune Hydrops Fetalis
Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
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
Significant Overlap and Possible Identity of Macrocephaly Capillary Malformation and Megalencephaly Polymicrogyria-Polydactyly Hydrocephalus Syndromes
Increased Prevalence of Cardiovascular Defects Among 56,709 California Twin Pairs
High Resolution SNP Based Microarray Mapping of Mosaic Supernumerary Marker Chromosomes 13 and 17: Delineating Novel Loci for Apraxia
Phenotype and 244k Array-CGH Characterization of Chromosome 13Q Deletions: An Update of the Phenotypic Map of 13q21.1-qter
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 (AUNAL)
aCGH Detects Partial Tetrasomy of 12p in Blood From Pallister–Killian Syndrome Cases Without Invasive Skin Biopsy
A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family
Compound Heterozygous ASPM Mutations in Pakistani MCPH Families
NR2F1 Deletion in a Patient With a De Novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic Deafness
Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome
Morphological Abnormalities in Children With Thyroidal Congenital Hypothyroidism
FARP2 , HDLBP and PASK are Downregulated in a Patient with Autism and 2q37.3 Deletion Syndrome
Incidence of the Mucopolysaccharidoses in Taiwan, 1984–2004
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests A Functional Importance of C-Terminus of the IDUA Protein
Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19P Deletion—Evidence for Further Heterogeneity?
Constitutional Trisomy 8 and Behçet Syndrome
Hermansky–Pudlak Syndrome in Two African-American Brothers
Tetrasomy 13q Mosaicism Associated With Phylloid Hypomelanosis and Precocious Puberty
Further Case of Rubinstein–Taybi Syndrome Due to a Deletion in EP300
Mental Retardation, Facial Anomalies, Brachydactyly, Cerebral Angiomas, Femoral Nucleus Necrosis: A New Entity or Hall–Riggs Syndrome?
Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients
A Child With Terminal 14q Deletion Syndrome: Consideration of Genotype–Phenotype Correlations
Novel Exon 1 Mutations in MECP2 Implicate Isoform MeCP2_e1 in Classical Rett Syndrome
Bilateral Lambdoid and Sagittal Synostosis (BLSS): A Unique Craniosynostosis Syndrome or Predictable Craniofacial Phenotype?
Late-Onset Lennox–Gastaut Syndrome in a Patient With 15q11.2–q13.1 Duplication
Craniosynostosis in Patients With Noonan Syndrome Caused by Germline KRAS Mutations
Possible New Syndrome: Left Ventricular Noncompaction, Partial Agenesis of the Corpus Callosum, and Developmental Delay in a Brazilian Child
A CDKL5 Mutated Child With Precocious Puberty
Homozygous Female Becker Muscular Dystrophy
Trisomy 13 in a 7-Year-Old Girl With Cerebellar Tumor, Eye Abnormalities, and Autistic Features
Dicentric Inverted Duplication of Entire 4p Arm With No Apparent Deletion and Internal Placing of the (-TTAGGG-)n Sequence: Description of the First Patient
A Duplication Including GATA4 Does Not Co-Segregate With Congenital Heart Defects
Array Analysis and Molecular Studies of INI1 in an Infant With Deletion 22q13 (Phelan–McDermid Syndrome) and Atypical Teratoid/Rhabdoid Tumor
Further Clinical Delineation of Fine–Lubinsky Syndrome
Investigation of the Candidate Region for Trigonocephaly in a Patient With Monosomy 9p Syndrome Using Array-CGH
Arena Syndrome Is Caused by a Missense Mutation in PLP1
A Novel Alu-Mediated Xq28 Microdeletion Ablates TAZ and Partially Deletes DNL1L in A Patient With Barth Syndrome
9q Subtelomeric Deletion Syndrome With Diaphragmatic Hernia
Are the Oral-Facial-Digital Syndromes Ciliopathies?
ASHORTHISTORYOFMEDICALGENETICS
INBORN ERRORS OF DEVELOPMENT: THE MOLECULAR BASIS OF CLINICAL DISORDERS OF MORPHOGENESIS
Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Persistent Challenge 18 Years Later
Array CGH Ends Diagnostic Odyssey for Infant With Features of Williams and Alagille Syndrome