Detalhe da pesquisa
1.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A;
179(2): 150-158, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30614194
2.
Germline mosaicism in Cornelia de Lange syndrome.
Am J Med Genet A;
158A(6): 1481-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22581668
3.
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Hum Mutat;
32(2): 152-67, 2011 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20848652
4.
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Hum Genet;
126(3): 411-23, 2009 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19449031
5.
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
World J Gastroenterol;
14(44): 6863-6, 2008 Nov 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19058315
6.
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
J Child Neurol;
20(2): 142-6, 2005 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15794182
7.
Brown syndrome associated with velocardiofacial syndrome.
J AAPOS;
8(3): 290-2, 2004 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15226737
8.
Left ventricular dysfunction in duchenne muscular dystrophy and genotype.
Am J Cardiol;
114(2): 284-9, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24878125
9.
Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.
Surg Neurol Int;
3: 23, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22439114
10.
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Neurology;
79(11): 1145-54, 2012 Sep 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22933740
11.
Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report.
J Child Neurol;
25(9): 1110-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20501885
12.
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Ann Neurol;
52(6): 836-42, 2002 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12447940
13.
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
J Biol Chem;
279(21): 22624-34, 2004 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14985365