Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits
Top Cited Papers
- 1 September 2000
- journal article
- review article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 71 (1-2) , 43-50
- https://doi.org/10.1006/mgme.2000.3052
Abstract
No abstract availableKeywords
This publication has 70 references indexed in Scilit:
- Interaction of the Corepressor Alien with DAX-1 Is Abrogated by Mutations of DAX-1 Involved in Adrenal Hypoplasia CongenitaPublished by Elsevier ,2000
- The genesis of cystic fibrosis lung diseaseJournal of Clinical Investigation, 1999
- Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypesHuman Genetics, 1996
- In VivoMeasurements of Ion Transport in Long-Living CF MiceBiochemical and Biophysical Research Communications, 1996
- Identification of a Putative Steroidogenic Factor-1 Response Element in the DAX-1 PromoterBiochemical and Biophysical Research Communications, 1995
- Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung diseaseHuman Molecular Genetics, 1995
- Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismNature, 1994
- An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaNature, 1994
- Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locusHuman Molecular Genetics, 1993
- Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileusThe Journal of Pediatrics, 1989