Zobrazeno 1 - 10
of 608
pro vyhledávání: '"Brown WT"'
Autor:
Zhang Yx, Jenkins Ec, Shupin Li, Gu Y, Ju W, Xie Js, Wu Bl, Zhang Yp, Brown Wt, Nanbert Zhong, Yiping Shen, Guan Fj
Publikováno v:
Clinical Genetics. 75:133-140
Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (
Autor:
Brown Wt
Publikováno v:
Clinics in Laboratory Medicine. 15:859-876
The fragile X syndrome is the most common mendelianly inherited form of mental retardation. The underlying mutation is usually a triplet repeat (CGG) that is variable in length and undergoes a tremendous length amplification in affected individuals.
Autor:
Szatmari, P, Paterson, AD, Zwaigenbaum, L, Roberts, W, Brian, J, Liu, XQ, Vincent, JB, Skaug, JL, Thompson, AP, Senman, L, Feuk, L, Qian, C, Bryson, SE, Jones, MB, Marshall, CR, Scherer, SW, Vieland, VJ, Bartlett, C, Mangin, LV, Goedken, R, Segre, A, Pericak-Vance, MA, Cuccaro, ML, Gilbert, JR, Wright, HH, Abramson, RK, Betancur, C, Bourgeron, T, Gillberg, C, Leboyer, M, Buxbaum, JD, Davis, KL, Hollander, E, Silverman, JM, Hallmayer, J, Lotspeich, L, Sutcliffe, JS, Haines, JL, Folstein, SE, Piven, J, Wassink, TH, Sheffield, V, Geschwind, DH, Bucan, M, Brown, WT, Cantor, RM, Constantino, JN, Gilliam, TC, Herbert, M, LaJonchere, C, Ledbetter, DH, Lese-Martin, C, Miller, J, Nelson, S, Samango-Sprouse, CA, Spence, S, State, M, Tanzi, RE, Coon, H, Dawson, G, Devlin, B, Estes, A, Flodman, P, Klei, L, McMahon, WM, Minshew, N, Munson, J, Korvatska, E, Rodier, PM, Schellenberg, GD, Smith, M, Spence, MA, Stodgell, C, Tepper, PG, Wijsman, EM, Yu, CE, Rogé, B, Mantoulan, C, Wittemeyer, K, Poustka, A, Felder, B, Klauck, SM, Schuster, C, Poustka, F, Bölte, S, Feineis-Matthews, S, Herbrecht, E, Schmötzer, G, Tsiantis, J, Papanikolaou, K, Maestrini, E, Bacchelli, E
Publikováno v:
Szatmari, P; Paterson, AD; Zwaigenbaum, L; Roberts, W; Brian, J; Liu, XQ; et al.(2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319-328. doi: 10.1038/ng1985. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/9s05v2sn
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3f75a1c477e040f4db908e554c2b8e8e
http://www.escholarship.org/uc/item/9s05v2sn
http://www.escholarship.org/uc/item/9s05v2sn
Publikováno v:
Neurogenetics. 2(2)
To determine whether there is an association of polymorphic variants of the serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) and autistic spectrum disorders, we analyzed the 5-HTTLPR genotypes of 72 autistic subjects, 11 fragil
Publikováno v:
Neurogenetics. 3(1)
The lysosomal storage of lipofuscins is the common pathological feature that characterizes the infantile, late-infantile, juvenile (Batten's disease), and Finnish-variant neuronal ceroid lipofuscinosis (INCL, LINCL, JNCL and FNCL), which are due to m
Publikováno v:
American journal of medical genetics. 51(4)
We report on 2 brothers and their nephew with an apparently new X-linked mental retardation (XLMR) syndrome characterized by a distinct facial appearance, growth retardation, and severe mental retardation. The facial traits included triangular shape;
Autor:
Sherman, Sl, Barbi, G, Brondumnielsen, K, Brown, Wt, Carpenter, Nj, Chudley, Ae, Ferraz, Op, Ferreira, P, Gustavson, Kh, Halliday, J, Hockey, A, Howardpeebles, Pn, Jenkins, E, Kennerknecht, I, Kahkonen, M, Ladaique, P, Leisti, J, Maddalena, A, Mazurczak, T, Mattei, Jf, Mattina, Teresa, Mckinley, Mj, Murphy, P, Pellissier, Mc, Purvissmith, S, Robinson, H, Scapagnini, U, Schaap, T, Shapiro, Lr, Smits, Apt, Steinbach, P, Turner, G, Uchida, Ia, Vanoost, Ba, Voelckel, Ma, Weaver, Dd, Webb, T.
Publikováno v:
American Journal of Medical Genetics, 43(1-2), 355-360. WILEY-LISS
A prospective study of the fragile X syndrome [fra(X)] was initiated one year ago to refine the estimates of recurrence risks based on the phenotype of the mother and the family history of the syndrome. The basic unit of data consists of the descript
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::144d157b1b84fb9a488b7242bee7a264
https://research.rug.nl/en/publications/05008372-5464-4633-aa20-acf1a87ed10c
https://research.rug.nl/en/publications/05008372-5464-4633-aa20-acf1a87ed10c
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