Detalhe da pesquisa
1.
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
Breast Cancer Res Treat
; 194(1): 187-198, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35578052
2.
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
BMC Neurol
; 22(1): 292, 2022 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932018
3.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
4.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
5.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet
; 97(4): 535-45, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387595
6.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
7.
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
Nucleic Acids Res
; 42(Database issue): D1020-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24234438
8.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
9.
Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet
; 15: 156, 2014 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25544508
10.
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Brain
; 136(Pt 3): 882-90, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423671
11.
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
J Appl Genet
; 65(2): 303-308, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987971
12.
A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.
Front Genet
; 15: 1331676, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38463166
13.
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
Mol Syndromol
; 15(2): 125-129, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585544
14.
Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience.
Genes (Basel)
; 15(3)2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540436
15.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606591
16.
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability.
Ophthalmic Genet
; 43(5): 689-692, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35658784
17.
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
BMC Med Genomics
; 14(1): 113, 2021 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33882917
18.
Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.
Pan Afr Med J
; 39: 21, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34394812
19.
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
Afr Health Sci
; 21(2): 960-967, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34795756
20.
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
Am J Med Genet A
; 152A(11): 2850-3, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979190