Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family
Primary palmar hyperhidrosis locus maps to 14q11.2-q13
A 9-year-old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis
A nonsense mutation of PEPD in four Amish children with prolidase deficiency
Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene ( PTPN22 ): Association between a promoter polymorphism and type 1 diabetes in Asian populations
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies
POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
Healthy 12-year-old boy with mosaic inv dup(15)(q13)
Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
Mosaic trisomy 8 and Townes–Brocks syndrome due to a novel SALL1 mutation in the same patient
Spondylo-ocular syndrome: A new entity involving the eye and spine
Genetics and life insurance: Medical underwriting and social policy. Edited by Mark A. Rothstein. The MIT Press, 2004, 293p.
Variable phenotype and associations in chromosome 22q11.2 microdeletion
Wiedemann–Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan
Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome ( Am J Med Genet 135A:339–341)