Detalhe da pesquisa
1.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
2.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31793730
3.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
4.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
5.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
6.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178447
7.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284480
8.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358180
9.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
10.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605097
11.
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Amino Acids
; 47(12): 2647-58, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26215737
12.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Hum Mutat
; 33(1): 64-72, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22045651
13.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat
; 33(6): 949-59, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396310
14.
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
15.
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Brain
; 139(11): e64, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27474218
16.
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
Dev Med Child Neurol
; 54(10): 905-11, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22861906
17.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Eur J Hum Genet
; 30(6): 682-686, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803161
18.
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Hum Mol Genet
; 18(23): 4590-602, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19740913
19.
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia
; 52(10): 1820-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21762454
20.
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