Detalhe da pesquisa
1.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010831
2.
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Hum Mutat
; 39(6): 774-789, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527791
3.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Am J Med Genet A
; 176(8): 1760-1763, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055030
4.
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Am J Med Genet A
; 176(3): 727-732, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383842
5.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Hum Mutat
; 38(10): 1432-1441, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744936
6.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27634379
7.
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.
Ann Neurol
; 70(4): 627-33, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22028222
8.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Neurol Genet
; 5(6): e372, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872053
9.
Molecular combing: A new tool in diagnosing leukemia.
Cancer Biomark
; 17(4): 405-409, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802191
10.
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Neurology
; 83(8): 733-42, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25031281