Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
3.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783266
4.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356099
5.
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Am J Med Genet A
; 170A(5): 1115-26, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26971886
6.
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Am J Med Genet A
; 164A(5): 1289-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664873
7.
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Hum Mol Genet
; 20(8): 1547-59, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21262861
8.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet
; 87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129721
9.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Am J Med Genet A
; 161A(12): 2972-80, 2013 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214728
10.
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.
J Clin Endocrinol Metab
; 99(6): E1067-71, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24606082
11.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Nat Genet
; 44(7): 793-6, 2012 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22610116
12.
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
Am J Med Genet A
; 143A(3): 258-64, 2007 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236192