Detalhe da pesquisa
1.
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain
; 137(Pt 6): 1676-700, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24860126
2.
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain
; 136(Pt 1): 223-44, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365099
3.
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics
; 13(4): 367-73, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833188
4.
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain
; 133(11): 3194-209, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20929962
5.
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
Acta Neuropathol
; 120(4): 503-15, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461390
6.
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Brain
; 131(Pt 9): 2304-20, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18669490
7.
Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.
Hemoglobin
; 33(1): 24-36, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19205970
8.
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Eur J Hum Genet
; 16(9): 1029-37, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18398436
9.
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Neurogenetics
; 9(4): 277-85, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18685874
10.
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Epilepsy Res
; 80(2-3): 224-8, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18468866
11.
[Molecular diagnosis of fragile X syndrome]. / Diagnostic moleculaire du sydrome de l'X fragile.
Tunis Med
; 86(11): 973-7, 2008 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-19213487
12.
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Hum Mutat
; 28(11): 1055-64, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17584854
13.
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Hum Mutat
; 28(2): 207-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221867
14.
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
J Comp Neurol
; 500(2): 239-54, 2007 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-17111359
15.
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
Am J Med Genet A
; 158A(6): 1512-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522697
16.
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 101(12): 4541-4550, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27603904
17.
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nat Genet
; 48(11): 1349-1358, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694961
18.
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Eur J Hum Genet
; 24(4): 611-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395554
19.
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.
Neuromuscul Disord
; 25(4): 308-20, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25613807
20.
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
J Clin Endocrinol Metab
; 100(3): 994-1001, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25514101