Detalhe da pesquisa
1.
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Am J Med Genet A
; 164A(8): 1965-75, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24782328
2.
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Blood
; 118(22): 5928-37, 2011 Nov 24.
Artigo
Inglês
| MEDLINE | ID: mdl-21960593
3.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Am J Med Genet A
; 158A(7): 1633-40, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22678713
4.
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Hum Genet
; 129(2): 199-208, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21085994
5.
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
Am J Med Genet A
; 152A(8): 1984-9, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20635336
6.
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.
Eur J Hum Genet
; 23(2): 252-5, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24916642
7.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Pigment Cell Melanoma Res
; 27(1): 59-71, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24118800
8.
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Eur J Hum Genet
; 22(4): 471-9, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24129437
9.
Prenatal diagnosis using array-CGH: a French experience.
Eur J Med Genet
; 56(7): 341-5, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23454632
10.
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
Eur J Med Genet
; 55(2): 135-9, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22198201
11.
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Eur J Med Genet
; 55(2): 151-5, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22274139
12.
Identification of a complex 17q rearrangement in a metanephric stromal tumor.
Cancer Genet
; 204(6): 340-3, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21763632
13.
Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Pigment Cell Melanoma Res
; 29(1): 107-9, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26247803