New test catches most Turner syndrome cases
Fetal genome sequenced from parents' blood samples
In this issue
The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings
Saving Grace: On the nature of syndromes and the missed Nobel
Linking chromosome abnormality and copy number variation
Genotype-phenotype correlations in the genomic age: Concordance in monozygous twin pairs
Variable expression of neurofibromatosis 1 in monozygotic twins
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy
Ophthalmic findings in the Greek isolate of Cohen syndrome
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome
Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
Associated malformations among infants with neural tube defects
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome
Genetic screening for Krabbe disease: Learning from the past and looking to the future
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1
Craniomicromelic syndrome: First report in a male
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium
Hajdu-Cheney syndrome with severe dural ectasia
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations
Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-Identification of a novel SLC34A3/NaPi-IIc mutation
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging
A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature
Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA luster
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip
A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation
Alu-mediated recombination in the HAX1 gene as the molecular basis of severe congenital neutropenia
Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion
Response to Drs. Stöllberger and Finsterer “Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome”
Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population