Detalhe da pesquisa
1.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
2.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
3.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
4.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
5.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026061
6.
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Blood
; 126(11): 1273-80, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148990
7.
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.
Epilepsia
; 57(5): e87-93, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030113
8.
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Neurobiol Dis
; 80: 80-92, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26007637
9.
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Am J Hum Genet
; 90(4): 689-92, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22444670
10.
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Am J Med Genet A
; 167A(10): 2314-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959266
11.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26514728
12.
Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis.
Am J Hematol
; 90(8): 737-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26017030
13.
Malignant Melanoma Arising in Patients with a Large Congenital Melanocytic Naevus: Retrospective Study of 10 Cases with Cytogenetic Analysis.
Acta Derm Venereol
; 95(6): 686-90, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25594732
14.
[Dermatological manifestations of monoclonal gammopathies: contribution of cutaneous histopathology]. / Manifestations dermatologiques des gammapathies monoclonales : apport de l'histopathologie cutanée.
Ann Pathol
; 35(4): 281-93, 2015 Aug.
Artigo
em Francês
| MEDLINE | ID: mdl-26188671
15.
A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.
Hemoglobin
; 36(6): 581-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092150
16.
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Eur J Med Genet
; 65(3): 104445, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091117
17.
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Eur J Med Genet
; 64(10): 104294, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352414
18.
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.
J Pediatr Gastroenterol Nutr
; 48(4): 501-3, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19322062
19.
[Case for diagnosis: An unusual lymph node fine needle aspiration]. / Cas pour diagnostic: une cytoponction ganglionnaire d'aspect inhabituel.
Ann Pathol
; 33(1): 62-5, 2013 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-23472898
20.
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Eur J Med Genet
; 61(4): 185-188, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29174094