Published in Hum Mol Genet on November 01, 1993
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Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
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Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet (1992) 1.55
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet (1995) 1.52
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 1.52
A randomized controlled trial of three years growth hormone and gonadotropin-releasing hormone agonist treatment in children with idiopathic short stature and intrauterine growth retardation. J Clin Endocrinol Metab (2001) 1.51
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet (1998) 1.49
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Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet (1995) 1.47
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet (1988) 1.47
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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet (1999) 1.46
A 43-year-old male with untreated panhypopituitarism due to absence of the pituitary stalk: from dwarf to giant. J Clin Endocrinol Metab (2002) 1.46
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science (1992) 1.45
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics (1989) 1.44
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci U S A (1999) 1.44
Development and psychometric evaluation of the TAPQOL: a health-related quality of life instrument for 1-5-year-old children. Qual Life Res (2000) 1.42
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet (1999) 1.41
Regional assignment of the gene locus for steroid sulfatase. Hum Genet (1980) 1.40
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The role of estrogen in the control of rat osteocyte apoptosis. J Bone Miner Res (1998) 1.39
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Cloning and characterization of the human choroideremia gene. Hum Mol Genet (1994) 1.31
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Human pancreatic adenocarcinomas express Fas and Fas ligand yet are resistant to Fas-mediated apoptosis. Cancer Res (1998) 1.28