Detalhe da pesquisa
1.
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Nat Genet
; 10(2): 243-5, 1995 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7663524
2.
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
J Neurol
; 266(12): 2987-2996, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471688
3.
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.
J Clin Invest
; 93(1): 99-105, 1994 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-8282827
4.
Bisulfite genomic sequencing of microdissected cells.
Nucleic Acids Res
; 29(21): E106-6, 2001 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11691943
5.
Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations.
Leukemia
; 13(12): 1975-81, 1999 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-10602418
6.
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.
Eur J Hum Genet
; 6(4): 396-9, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9781048
7.
Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy.
Neurology
; 51(5): 1454-6, 1998 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9818880
8.
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology
; 54(5): 1075-9, 2000 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-10720277
9.
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology
; 48(5): 1227-34, 1997 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9153448
10.
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.
Neuromuscul Disord
; 4(2): 115-20, 1994 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-7516752
11.
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
J Neurol
; 247(7): 524-9, 2000 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10993494
12.
[Genes and intra-uterine growth retardation]. / Gènes et retards de croissance intra-utérins.
Arch Pediatr
; 5 Suppl 4: 332S-337S, 1998.
Artigo
em Francês
| MEDLINE | ID: mdl-9853079
13.
[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers]. / Piège diagnostique et difficultés du conseil génétique dans une famille de patients porteurs de maladies neuromusculaires.
Arch Pediatr
; 8(9): 957-60, 2001 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-11582937
14.
[Late complication of blunt injuries of the thorax: acute pericarditis. Apropos of a case]. / Une complication tardive des traumatismes fermés du thorax: la péricardite aiguë. A propos d'un cas.
Ann Cardiol Angeiol (Paris)
; 42(5): 253-5, 1993 May.
Artigo
em Francês
| MEDLINE | ID: mdl-8368798
15.
Common SNPs of AmelogeninX (AMELX) and dental caries susceptibility.
J Dent Res
; 92(5): 418-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23525533
16.
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscul Disord
; 6(6): 463-5, 1996 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9027856
17.
Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis.
Am J Med Genet
; 80(5): 543-5, 1998 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-9880230
18.
[Glomerulonephritis with mesangial deposits of IgA and seronegative spondylarthropathy]. / Glomérulonéphrite à dépôts mésangiaux d'IgA et spondylarthropathie séronégative.
Rev Med Interne
; 12(2): 158-9, 1991.
Artigo
em Francês
| MEDLINE | ID: mdl-1853003
19.
Human satellites 2 and 3.
Ann Genet
; 37(4): 163-71, 1994.
Artigo
em Inglês
| MEDLINE | ID: mdl-7710250
20.
A simple method for calculating risks before DNA analysis.
J Med Genet
; 25(10): 663-8, 1988 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-3225821