MeSH Review:
Genetic Heterogeneity
Wieczorek,
Gencik,
Rujescu,
Tonn,
Giegling,
Epplen,
Dahmen,
Gasser,
Müller-Myhsok,
Wszolek,
Oehlmann,
Calne,
Bonifati,
Bereznai,
Fabrizio,
Vieregge,
Horstmann,
Berglund,
Mölling,
Sjöberg,
Söderquist,
Chambers,
Fan,
Droll,
Hembrador,
Slater,
Nickells,
Dustin,
Dibisceglie,
Aksentijevich,
Galon,
Soares,
Mansfield,
Hull,
Oh,
Goldbach-Mansky,
Dean,
Athreya,
Reginato,
Henrickson,
Pons-Estel,
O'Shea,
Kastner,
Howe,
Bair,
Sayed,
Anderson,
Mitros,
Petersen,
Velculescu,
Traverso,
Vogelstein,
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- Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C. Nat. Genet. (1993)
- The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Patel, H., Hart, P.E., Warner, T.T., Houlston, R.S., Patton, M.A., Jeffery, S., Crosby, A.H. Am. J. Hum. Genet. (2001)
- Genetic linkage heterogeneity in myotubular myopathy. Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J.J., Pelissier, J.F., Feingold, N., Junien, C., Mandel, J.L. Am. J. Hum. Genet. (1995)
- A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Disse-Nicodème, S., Achard, J.M., Desitter, I., Houot, A.M., Fournier, A., Corvol, P., Jeunemaitre, X. Am. J. Hum. Genet. (2000)
- TNFA promoter polymorphisms and narcolepsy. Wieczorek, S., Gencik, M., Rujescu, D., Tonn, P., Giegling, I., Epplen, J.T., Dahmen, N. Tissue Antigens (2003)
- Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. Mickelson, J.R., Louis, C.F. Physiol. Rev. (1996)
- Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Jadeja, S., Smyth, I., Pitera, J.E., Taylor, M.S., van Haelst, M., Bentley, E., McGregor, L., Hopkins, J., Chalepakis, G., Philip, N., Perez Aytes, A., Watt, F.M., Darling, S.M., Jackson, I., Woolf, A.S., Scambler, P.J. Nat. Genet. (2005)
- Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Howe, J.R., Bair, J.L., Sayed, M.G., Anderson, M.E., Mitros, F.A., Petersen, G.M., Velculescu, V.E., Traverso, G., Vogelstein, B. Nat. Genet. (2001)
- Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Mavrogiannis, L.A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C.A., Sugayama, S.M., Salamanca, A., Wall, S.A., Morriss-Kay, G.M., Wilkie, A.O. Nat. Genet. (2001)
- A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Charlier, C., Singh, N.A., Ryan, S.G., Lewis, T.B., Reus, B.E., Leach, R.J., Leppert, M. Nat. Genet. (1998)
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- Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease. Jinno, Y., Akaboshi, I., Matsuda, I. Hum. Genet. (1984)
- Evolution of hepatitis C virus genome in chronically infected patients receiving ribavirin monotherapy. Querenghi, F., Yu, Q., Billaud, G., Maertens, G., Trépo, C., Zoulim, F. J. Viral Hepat. (2001)
- Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations. Wiley, J., Lynch, T., Lincoln, S., Skipper, L., Hulihan, M., Gosal, D., Bisceglio, G., Kachergus, J., Hardy, J., Farrer, M.J. Mov. Disord. (2004)
- A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Antignac, C., Arduy, C.H., Beckmann, J.S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.L., Kleinknecht, C., Broyer, M. Nat. Genet. (1993)
- Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Zerres, K., Mücher, G., Bachner, L., Deschennes, G., Eggermann, T., Kääriäinen, H., Knapp, M., Lennert, T., Misselwitz, J., von Mühlendahl, K.E. Nat. Genet. (1994)
- Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Strathdee, C.A., Duncan, A.M., Buchwald, M. Nat. Genet. (1992)
- Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., Dryja, T.P. Nat. Genet. (1995)
- Ulcerative colitis: a genetically heterogeneous disorder defined by genetic (HLA class II) and subclinical (antineutrophil cytoplasmic antibodies) markers. Yang, H., Rotter, J.I., Toyoda, H., Landers, C., Tyran, D., McElree, C.K., Targan, S.R. J. Clin. Invest. (1993)
- Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Bellus, G.A., Gaudenz, K., Zackai, E.H., Clarke, L.A., Szabo, J., Francomano, C.A., Muenke, M. Nat. Genet. (1996)
- Alien antigens return to the fold. Parham, P. Immunol. Today (1989)
- Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Arveiler, B., de Saint-Basile, G., Fischer, A., Griscelli, C., Mandel, J.L. Am. J. Hum. Genet. (1990)
- CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Rave-Harel, N., Madgar, I., Goshen, R., Nissim-Rafinia, M., Ziadni, A., Rahat, A., Chiba, O., Kalman, Y.M., Brautbar, C., Levinson, D. Am. J. Hum. Genet. (1995)
- Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Paloneva, J., Manninen, T., Christman, G., Hovanes, K., Mandelin, J., Adolfsson, R., Bianchin, M., Bird, T., Miranda, R., Salmaggi, A., Tranebjaerg, L., Konttinen, Y., Peltonen, L. Am. J. Hum. Genet. (2002)
- Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency. Uhlemann, E.R., TenPas, J.H., Lucky, A.W., Schulman, J.D., Mudd, S.H., Shulman, N.R. N. Engl. J. Med. (1976)
- Human cytochrome P450 isoforms. Their genetic heterogeneity and induction by omeprazole. Farrell, G.C., Murray, M. Gastroenterology (1990)
- Androgen insensitivity in man: evidence for genetic heterogeneity. Amrhein, J.A., Meyer, W.J., Jones, H.W., Migeon, C.J. Proc. Natl. Acad. Sci. U.S.A. (1976)
- Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. El-Shanti, H., Lidral, A.C., Jarrah, N., Druhan, L., Ajlouni, K. Am. J. Hum. Genet. (2000)
- Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Ramesh, V., McClatchey, A.I., Ramesh, N., Benoit, L.A., Berson, E.L., Shih, V.E., Gusella, J.F. Proc. Natl. Acad. Sci. U.S.A. (1988)
- Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Vincent, A.L., Billingsley, G., Buys, Y., Levin, A.V., Priston, M., Trope, G., Williams-Lyn, D., Héon, E. Am. J. Hum. Genet. (2002)
- Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari, F., Landau, M., Cousin, P., Mevorah, B., Brenner, S., Panizzon, R., Schorderet, D.F., Hohl, D., Huber, M. Am. J. Hum. Genet. (2000)
- Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Schwarze, U., Atkinson, M., Hoffman, G.G., Greenspan, D.S., Byers, P.H. Am. J. Hum. Genet. (2000)
- Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Wagner, A., Barrows, A., Wijnen, J.T., van der Klift, H., Franken, P.F., Verkuijlen, P., Nakagawa, H., Geugien, M., Jaghmohan-Changur, S., Breukel, C., Meijers-Heijboer, H., Morreau, H., van Puijenbroek, M., Burn, J., Coronel, S., Kinarski, Y., Okimoto, R., Watson, P., Lynch, J.F., de la Chapelle, A., Lynch, H.T., Fodde, R. Am. J. Hum. Genet. (2003)
- The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Aksentijevich, I., Galon, J., Soares, M., Mansfield, E., Hull, K., Oh, H.H., Goldbach-Mansky, R., Dean, J., Athreya, B., Reginato, A.J., Henrickson, M., Pons-Estel, B., O'Shea, J.J., Kastner, D.L. Am. J. Hum. Genet. (2001)
- The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Guay-Woodford, L.M., Muecher, G., Hopkins, S.D., Avner, E.D., Germino, G.G., Guillot, A.P., Herrin, J., Holleman, R., Irons, D.A., Primack, W. Am. J. Hum. Genet. (1995)
- Quasispecies heterogeneity within the E1/E2 region as a pretreatment variable during pegylated interferon therapy of chronic hepatitis C virus infection. Chambers, T.J., Fan, X., Droll, D.A., Hembrador, E., Slater, T., Nickells, M.W., Dustin, L.B., Dibisceglie, A.M. J. Virol. (2005)
- Evidence of focal genetic microheterogeneity in glioblastoma multiforme by area-specific CGH on microdissected tumor cells. Jung, V., Romeike, B.F., Henn, W., Feiden, W., Moringlane, J.R., Zang, K.D., Urbschat, S. J. Neuropathol. Exp. Neurol. (1999)
- Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. Ghadially, R., Williams, M.L., Hou, S.Y., Elias, P.M. J. Invest. Dermatol. (1992)
- Multilocus sequence typing of methicillin-resistant Staphylococcus aureus from an area of low endemicity by real-time PCR. Berglund, C., Mölling, P., Sjöberg, L., Söderquist, B. J. Clin. Microbiol. (2005)