Detalhe da pesquisa
1.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Brain
; 146(4): 1388-1402, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100962
2.
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.
Muscle Nerve
; 47(3): 385-95, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381770
3.
Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus.
BMC Musculoskelet Disord
; 14: 325, 2013 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24245522
4.
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.
Mol Cell Biol
; 26(5): 1879-87, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16479006
5.
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
Am J Med Genet A
; 143A(23): 2810-4, 2007 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18041775
6.
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
Hum Mutat
; 26(3): 279-80, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088906
7.
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Hum Mutat
; 26(2): 113-8, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15959873
8.
Basal ganglia pathology in ALS is associated with neuropsychological deficits.
Neurology
; 85(15): 1301-9, 2015 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385880
9.
Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes.
Gene
; 302(1-2): 11-9, 2003 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-12527192
10.
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
Arch Neurol
; 60(10): 1421-5, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14568813
11.
Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.
J Neurol
; 250(9): 1084-7, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14504970
12.
Intermittent pre-excitation-syndrome in facio-scapulo-humeral muscular dystrophy.
Korean Circ J
; 44(5): 348-50, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25278989
13.
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
Eur J Hum Genet
; 20(9): 933-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419169
14.
Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers.
Clin Biochem
; 42(16-17): 1635-41, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19732760
15.
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
Eur J Pediatr
; 166(7): 743-5, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17091258
16.
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.
Muscle Nerve
; 35(3): 396-401, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17143888
17.
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
Am J Med Genet A
; 140(11): 1219-22, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16652358
18.
Identification of Alu elements mediating a partial PMP22 deletion.
Neurogenetics
; 7(2): 119-26, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16570190
19.
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.
Fertil Steril
; 85(1): 135-8, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16412743
20.
Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1.
Muscle Nerve
; 34(2): 145-52, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16642499