Detalles de la búsqueda
1.
Repeat length variations in polyglutamine disease-associated genes affect body mass index.
Int J Obes (Lond)
; 43(3): 440-449, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30120431
2.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Hum Mutat
; 34(11): 1519-28, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23929686
3.
Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.
Brain
; 140(7): e42, 2017 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28549075
4.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Horm Res Paediatr
; 94(11-12): 448-455, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34706368
5.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20186688
6.
Repeat variations in polyglutamine disease-associated genes and cognitive function in old age.
Neurobiol Aging
; 84: 236.e17-236.e28, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31522753
7.
Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.
JAMA Neurol
; 76(6): 650-656, 2019 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30933216
8.
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease.
Stem Cell Res
; 39: 101498, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31326748
9.
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.
Neurobiol Aging
; 73: 230.e9-230.e17, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30314815
10.
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset.
Neurol Genet
; 4(5): e275, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30338295
11.
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
Stem Cell Res
; 29: 125-128, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29656178
12.
The MN1 oncoprotein activates transcription of the IGFBP5 promoter through a CACCC-rich consensus sequence.
J Mol Endocrinol
; 38(1-2): 113-25, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17242174
13.
Huntingtin gene repeat size variations affect risk of lifetime depression.
Transl Psychiatry
; 7(12): 1277, 2017 12 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29225330
14.
IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
Horm Res Paediatr
; 77(4): 250-60, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22572840
15.
Microsatellite analysis of voided-urine samples for surveillance of low-grade non-muscle-invasive urothelial carcinoma: feasibility and clinical utility in a prospective multicenter study (Cost-Effectiveness of Follow-Up of Urinary Bladder Cancer trial [CEFUB]).
Eur Urol
; 55(3): 659-67, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18501499
Resultados
1 -
15
de 15
1
Próxima >
>>