author-photo

Claude Dorche

18

Papers

883

Citations

Citation Trend

Filter By

Papers (11) Sort By

Journal Conference Others

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

2005 Human Genetics
Show All
- Source
- Cite
- Save
Citations (25)
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia

2004 The Journal of Clinical Endocrinology and Metabolism
Show All
- Source
- Cite
- Save
Citations (134)
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

2002 Human Mutation
Show All
- Source
- Cite
- Save
Citations (57)
Antenatal and Neonatal Screening (Second Edition)

2002 Human Genetics
- Claude Dorche
Show All
- Source
- Cite
- Save
Citations (0)
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

2000 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (12)
Molybdenum cofactor deficiency: first prenatal genetic analysis.

1999 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (16)
Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

1999 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (71)
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

1998 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (14)
Studies on the interaction of a thiol-dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase

1990 Archives of Biochemistry and Biophysics
Show All
- Source
- Cite
- Save
Citations (6)
Antenatal diagnosis of molybdenum cofactor deficiency

1990 American Journal of Obstetrics and Gynecology
Show All
- Source
- Cite
- Save
Citations (20)