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State administrative data can aid long-term newborn follow-up, researchers report
A majority of parents accept newborn screening for fragile X
In this issue
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability
The clinical delineation of malformation syndromes: Historical prospective and future direction
Editorial comment on “Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria”
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity
The microcephaly-capillary malformation syndrome
The real tiger mother: From the clinical geneticist's perspective
Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)
Features of basal cell carcinomas in basal cell nevus syndrome
Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person
Physical health problems in adults with Prader-Willi syndrome
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family
Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel
Automated syndrome detection in a set of clinical facial photographs
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot
Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.
Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
Pierpont syndrome: A collaborative study
Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion
Wilms tumor incidence in children with 2q terminal deletions: A cohort study
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features
Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
Familial cardiac valvulopathy due to filamin A mutation
Homozygous microdeletion of the POU1F1 , CHMP2B , and VGLL3 genes in chromosome 3-A novel syndrome
Potential teratogenic effects of allopurinol: A case report
Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
Heterozygous C-propeptide mutations in COL1A1 : Osteogenesis imperfecta type IIC and dense bone variant
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)
Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16)
Catel-Manzke syndrome: A clinical report suggesting autosomal recessive inheritance
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal
Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population
Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?
Reproductive success in patients with Hallermann-Streiff syndrome
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
The Niemann-Pick C1 gene interacts with a high-fat diet and modifying genes to promote weight gain
Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation-t(3;15)(q26.33;q26.1)
Growth in Phelan-McDermid syndrome
Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia
A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations” by Hernández et al.
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations
Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations”