Detalhe da pesquisa
1.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
2.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
3.
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Am J Med Genet A
; 179(7): 1351-1356, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050392
4.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
5.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
6.
Whole ARX gene duplication is compatible with normal intellectual development.
Am J Med Genet A
; 164A(9): 2324-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044608
7.
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Hum Mutat
; 34(1): 88-92, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965468
8.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
J Pediatr
; 163(3): 742-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535010
9.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
J Med Genet
; 49(12): 731-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23099646
10.
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Am J Med Genet A
; 158A(7): 1612-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678952
11.
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Am J Med Genet A
; 158A(2): 333-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22247066
12.
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.
J Med Genet
; 47(2): 132-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19635726
13.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
J Med Genet
; 47(8): 549-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656880
14.
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Eur J Hum Genet
; 27(4): 525-534, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622331
15.
TCF4 deletions in Pitt-Hopkins Syndrome.
Hum Mutat
; 29(11): E242-51, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18781613
16.
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.
Eur J Med Genet
; 51(1): 68-73, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18194880
17.
Truncation of NHEJ1 in a patient with polymicrogyria.
Hum Mutat
; 28(4): 356-64, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17191205
18.
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Hum Mutat
; 28(12): 1183-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17676597
19.
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Eur J Hum Genet
; 15(4): 432-40, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17264869
20.
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
J Med Genet
; 48(11): e1, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21330571