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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Genetic Counseling

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Disease relevance of Genetic Counseling


Psychiatry related information on Genetic Counseling


High impact information on Genetic Counseling


Chemical compound and disease context of Genetic Counseling


Biological context of Genetic Counseling


Anatomical context of Genetic Counseling


Associations of Genetic Counseling with chemical compounds


Gene context of Genetic Counseling

  • Since the current biochemical techniques for X-ALD carrier detection in affected families lack sufficient reliability, our procedure described for systematic mutation scanning is also capable of improving genetic counseling and prenatal diagnosis [33].
  • Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap [34].
  • Our data help define the distribution and spectrum of mutations associated with the TSC loci and will be useful for both understanding the function of these genes as well as genetic counseling in patients with the disease [35].
  • This study demonstrates that FAMA allows rapid and reliable detection of mutations in the L1CAM gene and thus represents one of the most appropriate methods to provide diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1 [36].
  • Identification of all WD mutations will undoubtedly increase our understanding of the normal function of ATP7B as well as lead to more accurate prognosis and genetic counseling [37].

Analytical, diagnostic and therapeutic context of Genetic Counseling


  1. Clinical and genetic abnormalities in patients with Friedreich's ataxia. Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.L., Brice, A., Koenig, M. N. Engl. J. Med. (1996) [Pubmed]
  2. X-linked inheritance of Fanconi anemia complementation group B. Meetei, A.R., Levitus, M., Xue, Y., Medhurst, A.L., Zwaan, M., Ling, C., Rooimans, M.A., Bier, P., Hoatlin, M., Pals, G., de Winter, J.P., Wang, W., Joenje, H. Nat. Genet. (2004) [Pubmed]
  3. Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Bieber, F.R., Hoffman, E.P., Amos, J.A. Am. J. Hum. Genet. (1989) [Pubmed]
  4. Genetic risks for children of women with myotonic dystrophy. Koch, M.C., Grimm, T., Harley, H.G., Harper, P.S. Am. J. Hum. Genet. (1991) [Pubmed]
  5. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. Schwartz, M.D., Lerman, C., Brogan, B., Peshkin, B.N., Halbert, C.H., DeMarco, T., Lawrence, W., Main, D., Finch, C., Magnant, C., Pennanen, M., Tsangaris, T., Willey, S., Isaacs, C. J. Clin. Oncol. (2004) [Pubmed]
  6. Genetic counseling in hereditary nonpolyposis colorectal cancer: an extended family with MSH2 mutation. Lynch, H.T., Lemon, S., Smyrk, T., Franklin, B., Karr, B., Lynch, J., Slominski-Caster, S., Murphy, P., Connolly, C. Am. J. Gastroenterol. (1996) [Pubmed]
  7. Early detection of high risk subjects in affective disorders. Mendlewicz, J. Progress in neuro-psychopharmacology. (1979) [Pubmed]
  8. Risk-reduction surgery decisions in high-risk women seen for genetic counseling. Ray, J.A., Loescher, L.J., Brewer, M. Journal of genetic counseling. (2005) [Pubmed]
  9. Autosomal dominant microcephaly without mental retardation. Rossi, L.N., Candini, G., Scarlatti, G., Rossi, G., Prina, E., Alberti, S. Am. J. Dis. Child. (1987) [Pubmed]
  10. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Yaron, Y., Ben Zeev, B., Shomrat, R., Bercovich, D., Naiman, T., Orr-Urtreger, A. Hum. Mutat. (2002) [Pubmed]
  11. Predictive testing for multiple endocrine neoplasia type 1 using DNA polymorphisms. Larsson, C., Shepherd, J., Nakamura, Y., Blomberg, C., Weber, G., Werelius, B., Hayward, N., Teh, B., Tokino, T., Seizinger, B. J. Clin. Invest. (1992) [Pubmed]
  12. Genetic counseling and testing for germline p16 mutations in two pancreatic cancer-prone families. Lynch, H.T., Brand, R.E., Lynch, J.F., Fusaro, R.M., Smyrk, T.C., Goggins, M., Kern, S.E. Gastroenterology (2000) [Pubmed]
  13. Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling. Milutinovic, J., Fialkow, P.J., Phillips, L.A., Agoda, L.Y., Bryant, J.I., Denney, J.D., Rudd, T.G. Lancet (1980) [Pubmed]
  14. Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. Liede, A., Metcalfe, K., Hanna, D., Hoodfar, E., Snyder, C., Durham, C., Lynch, H.T., Narod, S.A. Am. J. Hum. Genet. (2000) [Pubmed]
  15. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Cazeneuve, C., Sarkisian, T., Pêcheux, C., Dervichian, M., Nédelec, B., Reinert, P., Ayvazyan, A., Kouyoumdjian, J.C., Ajrapetyan, H., Delpech, M., Goossens, M., Dodé, C., Grateau, G., Amselem, S. Am. J. Hum. Genet. (1999) [Pubmed]
  16. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. Kosugi, S., Bhayana, S., Dean, H.J. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  17. Diagnostic delay in neurofibromatosis type 1. Cnossen, M.H., Smit, F.J., de Goede-Bolder, A., Frets, P.G., Duivenvoorden, H.J., Niermeijer, M.F. Eur. J. Pediatr. (1997) [Pubmed]
  18. The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy. I. Analysis of results from 29 studies. Gale, A.N., Murphy, E.A. Journal of chronic diseases. (1978) [Pubmed]
  19. Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Boehmer, A.L., Brinkmann, A.O., Niermeijer, M.F., Bakker, L., Halley, D.J., Drop, S.L. Am. J. Hum. Genet. (1997) [Pubmed]
  20. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Boespflug-Tanguy, O., Mimault, C., Melki, J., Cavagna, A., Giraud, G., Pham Dinh, D., Dastugue, B., Dautigny, A. Am. J. Hum. Genet. (1994) [Pubmed]
  21. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Bassett, J.H., Forbes, S.A., Pannett, A.A., Lloyd, S.E., Christie, P.T., Wooding, C., Harding, B., Besser, G.M., Edwards, C.R., Monson, J.P., Sampson, J., Wass, J.A., Wheeler, M.H., Thakker, R.V. Am. J. Hum. Genet. (1998) [Pubmed]
  22. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Gilbert, J.R., Stajich, J.M., Wall, S., Carter, S.C., Qiu, H., Vance, J.M., Stewart, C.S., Speer, M.C., Pufky, J., Yamaoka, L.H. Am. J. Hum. Genet. (1993) [Pubmed]
  23. DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Kerem, B.S., Buchanan, J.A., Durie, P., Corey, M.L., Levison, H., Rommens, J.M., Buchwald, M., Tsui, L.C. Am. J. Hum. Genet. (1989) [Pubmed]
  24. Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review. Perez, L.A., Al-Shammari, K.F., Giannobile, W.V., Wang, H.L. J. Periodontol. (2002) [Pubmed]
  25. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Huang, B., Thangavelu, M., Bhatt, S., J Sandlin, C., Wang, S. Prenat. Diagn. (2002) [Pubmed]
  26. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. Fardeau, M., Matsumura, K., Tomé, F.M., Collin, H., Leturcq, F., Kaplan, J.C., Campbell, K.P. C. R. Acad. Sci. III, Sci. Vie (1993) [Pubmed]
  27. An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism. Lee, Y.S., Poh, L., Loke, K.Y. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  28. Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. Morandi, L., Mora, M., Gussoni, E., Tedeschi, S., Cornelio, F. Ann. Neurol. (1990) [Pubmed]
  29. Health care and disease prevention through genetic counseling: a regional approach. Riccardi, V.M. American journal of public health. (1976) [Pubmed]
  30. Chlorpropamide-alcohol flushing is not useful for individual genetic counseling of diabetic patients. Dreyer, M., Kühnau, J., Rüdiger, H.W. Clin. Genet. (1980) [Pubmed]
  31. Genetic diseases in Lebanon. Der Kaloustian, V.M., Naffah, J., Loiselet, J. Am. J. Med. Genet. (1980) [Pubmed]
  32. Recombinant DNA methods in hemophilia A: carrier detection and prenatal diagnosis. Sadler, J.E. Semin. Thromb. Hemost. (1990) [Pubmed]
  33. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stöckler, S., Rabl, W., Gärtner, J., Zierz, S., Roscher, A.A. Am. J. Hum. Genet. (1995) [Pubmed]
  34. MECP2 is highly mutated in X-linked mental retardation. Couvert, P., Bienvenu, T., Aquaviva, C., Poirier, K., Moraine, C., Gendrot, C., Verloes, A., Andrès, C., Le Fevre, A.C., Souville, I., Steffann, J., des Portes, V., Ropers, H.H., Yntema, H.G., Fryns, J.P., Briault, S., Chelly, J., Cherif, B. Hum. Mol. Genet. (2001) [Pubmed]
  35. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Niida, Y., Lawrence-Smith, N., Banwell, A., Hammer, E., Lewis, J., Beauchamp, R.L., Sims, K., Ramesh, V., Ozelius, L. Hum. Mutat. (1999) [Pubmed]
  36. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Saugier-Veber, P., Martin, C., Le Meur, N., Lyonnet, S., Munnich, A., David, A., Hénocq, A., Héron, D., Jonveaux, P., Odent, S., Manouvrier, S., Moncla, A., Morichon, N., Philip, N., Satge, D., Tosi, M., Frébourg, T. Hum. Mutat. (1998) [Pubmed]
  37. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Kalinsky, H., Funes, A., Zeldin, A., Pel-Or, Y., Korostishevsky, M., Gershoni-Baruch, R., Farrer, L.A., Bonne-Tamir, B. Hum. Mutat. (1998) [Pubmed]
  38. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Trifillis, P., Ioannou, P., Schwartz, E., Surrey, S. Blood (1991) [Pubmed]
  39. Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletion. Trombetti, A., Bottani, A., George, F., Rizzoli, R. J. Bone Miner. Res. (2001) [Pubmed]
  40. Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. Jiang, M.C., Lien, Y.R., Chen, S.U., Ko, T.M., Ho, H.N., Yang, Y.S. Fertil. Steril. (1999) [Pubmed]
  41. Early adoption of BRCA1/2 testing: who and why. Armstrong, K., Weiner, J., Weber, B., Asch, D.A. Genet. Med. (2003) [Pubmed]
  42. Detection of subclinical brain electrical activity changes in Huntington's disease using artificial neural networks. de Tommaso, M., De Carlo, F., Difruscolo, O., Massafra, R., Sciruicchio, V., Bellotti, R. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2003) [Pubmed]
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