publication venue for
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.. 106:893-904. 2020
- Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors.. 98:818-829. 2016
- mtDNA affinities of the peoples of North-Central Mexico.. 66:989-998. 2000
- Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.. 65:308-317. 1999
- Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.. 64:136-145. 1999
- Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.. 65:974-983. 1999
- Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.. 62:98-110. 1998
- Chromosomal fragility and the 14q21q translocation.. 61:A122-A122. 1997
- Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.. 57:1342-1350. 1995
- Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).. 53:55-61. 1993
- A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.. 52:39-45. 1993
- Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.. 51:1396-1405. 1992
- Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.. 51:497-507. 1992
- X-LINKED GPD EXPRESSION IN NORMAL AND TRIPLOID OPOSSUM FETUSES. 49:432-432. 1991
- A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.. 48:1186-1191. 1991
- A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.. 48:305-317. 1991
- Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).. 47:670-679. 1990
- Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.. 47:112-120. 1990
- Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.. 45:681-688. 1989
- Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.. 36:1172-1179. 1984
- Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.. 36:499-505. 1984
- Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.. 34:381-387. 1982
- Beta-synuclein transgenic mice show significant reductions in alpha-synuclein protein expression levels. 2002
- Cost effectiveness of prenatal genetic and ultrasound screening for Van der Woude syndrome.