Les gènes modificateurs dans les maladies héréditaires
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Jean Génermont | Michel Werner | Cécile Fairhead | Roland Berger | Alain Bernheim | Claude Chevalet | Serge Potier | Hervé Thiellement | Anne Cambon-Thomsen | Lionel Larue | Louise Telvi | L. Larue | C. Chevalet | A. Cambon-Thomsen | R. Berger | A. Bernheim | Hervé Thiellement | Michel Werner | C. Fairhead | Serge Potier | L. Telvi | J. Génermont
[1] E. Lander,et al. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse , 1993, Cell.
[2] C. Beaumont,et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. , 1996, American journal of human genetics.
[3] R. Fisher. The Evolution of Dominance in Certain Polymorphic Species , 1930, The American Naturalist.
[4] L. Tsui,et al. A mutation in CFTR produces different phenotypes depending on chromosomal background , 1993, Nature Genetics.
[5] J. Melki,et al. The role of the SMN gene in proximal spinal muscular atrophy. , 1998, Human molecular genetics.
[6] R. Carrell,et al. A NEW DOUBLY SUBSTITUTED SICKLING HAEMOGLOBIN: HbS‐OMAN , 1989, British journal of haematology.
[7] J. Haldane. The relative importance of principal and modifying genes in determining some human diseases , 1941 .
[8] Eric S. Lander,et al. Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis , 1997, Nature Genetics.
[9] M. Komajda,et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. , 1997, Journal of molecular and cellular cardiology.
[10] M. Vidaud,et al. Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[11] G. Lathrop,et al. Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach , 1996, Nature Genetics.
[12] P Brown,et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. , 1992, Science.
[13] L. Tsui,et al. Erratum: Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor (Nature Genetics (1996) 12 (280-287)) , 1996 .
[14] A. Baldini,et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome , 1998, Nature Genetics.
[15] K. Summers. Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases , 1996, Human mutation.
[16] Xavier Estivill,et al. Complexity in a monogenic disease , 1996, Nature Genetics.
[17] B. Theophilus,et al. Complex alleles of the acid beta-glucosidase gene in Gaucher disease. , 1990, American journal of human genetics.
[18] U. Wolf. Identical mutations and phenotypic variation , 1997, Human Genetics.
[19] D. Labie,et al. Modulation polygénique des maladies monogéniques : l'exemple de la drépanocytose , 1996 .
[20] I. Tomlinson,et al. Modifier genes in humans: strategies for identification , 1998, European Journal of Human Genetics.
[21] T. L. McGee,et al. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. , 1997, American journal of human genetics.
[22] J. Renwick. NAIL‐PATELLA SYNDROME: EVIDENCE FOR MODIFICATION BY ALLELES AT THE MAIN LOCUS , 1956, Annals of human genetics.
[23] R J Adams,et al. Alpha thalassemia and stroke risk in sickle cell anemia , 1994, American journal of hematology.
[24] A. Munnich,et al. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. , 1999, American journal of ophthalmology.
[25] M. Goossens,et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. , 1998, The Journal of clinical investigation.