Detalhe da pesquisa
1.
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Int J Androl
; 33(3): 521-7, 2010 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19531083
2.
Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations.
Muscle Nerve
; 41(5): 607-13, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19941338
3.
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
Brain
; 132(Pt 6): 1545-52, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19433441
4.
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Eur J Pediatr
; 169(2): 201-5, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19526370
5.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat
; 30(7): 1093-103, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19462466
6.
Mitochondrial haplogroups: ischemic cardiovascular disease, other diseases, mortality, and longevity in the general population.
Circulation
; 117(19): 2492-501, 2008 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-18458168
7.
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Ann Hum Genet
; 73(Pt 3): 292-7, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19472443
8.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.
Dev Med Child Neurol
; 51(9): 754-7, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19207299
9.
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Eur J Hum Genet
; 16(8): 935-40, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18337726
10.
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
Neuromuscul Disord
; 18(4): 306-9, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18396044
11.
Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.
J Neurol Sci
; 268(1-2): 124-30, 2008 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18187157
12.
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Brain
; 130(Pt 3): 853-61, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17287286
13.
Deletion of exon 16 of the dystrophin gene is not associated with disease.
Hum Mutat
; 28(2): 205, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17226814
14.
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.
Arch Neurol
; 64(3): 435-8, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17353390
15.
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.
Mol Vis
; 13: 1962-9, 2007 Oct 17.
Artigo
Inglês
| MEDLINE | ID: mdl-17982420
16.
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
Eur J Med Genet
; 50(4): 256-63, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17576104
17.
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
Brain
; 129(Pt 12): 3402-12, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16815877
18.
Impaired cognitive function in women with congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 91(4): 1376-81, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16449336
19.
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.
Eur J Hum Genet
; 14(11): 1189-94, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16823396
20.
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.
Arch Neurol
; 63(12): 1701-6, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17172609