Detalles de la búsqueda
1.
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Nat Genet;
2(2): 139-43, 1992 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-1303264
2.
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Nat Genet;
26(3): 324-7, 2000 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-11062472
3.
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Nat Genet;
13(1): 35-42, 1996 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-8673101
4.
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
Nat Genet;
20(2): 129-35, 1998 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-9771704
5.
UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.
Eur J Hum Genet;
6(5): 459-66, 1998.
Artículo
en Inglés
| MEDLINE | ID: mdl-9801870
6.
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Int J Mol Med;
7(2): 155-61, 2001 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-11172618
7.
A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene.
Immunodeficiency;
5(3): 187-92, 1995.
Artículo
en Inglés
| MEDLINE | ID: mdl-7749438
8.
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
Hum Mol Genet;
4(12): 2339-46, 1995 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-8634708
9.
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.
Graefes Arch Clin Exp Ophthalmol;
239(3): 167-72, 2001 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-11405065
10.
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.
Hum Genet;
90(3): 243-6, 1992 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-1487237
11.
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Hum Mol Genet;
4(3): 489-90, 1995 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-7795608
12.
Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
Hum Mutat;
3(1): 64-6, 1994.
Artículo
en Inglés
| MEDLINE | ID: mdl-7509683
13.
Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region.
Hum Mol Genet;
3(6): 1027, 1994 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-7951219
Resultados
1 -
13
de 13
1
Próxima >
>>