Detalles de la búsqueda
1.
Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.
Hemoglobin
; : 1-4, 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38831725
2.
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Am J Hum Genet
; 107(3): 527-538, 2020 09 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32758447
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35578052
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35932018
5.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30698748
6.
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.
BMC Med Genet
; 21(1): 240, 2020 12 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33308164
7.
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
J Am Soc Nephrol
; 29(7): 2000-2013, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29903748
8.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29243349
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26387595
10.
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
BMC Med Genet
; 19(1): 118, 2018 07 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-30021525
11.
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
BMC Pediatr
; 18(1): 90, 2018 02 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29486744
12.
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
BMC Pediatr
; 18(1): 138, 2018 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-29665810
13.
Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
Cytogenet Genome Res
; 153(2): 66-72, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29248929
14.
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Am J Med Genet A
; 170(9): 2462-5, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27380734
15.
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Am J Med Genet A
; 170A(2): 460-465, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26463668
16.
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
Nucleic Acids Res
; 42(Database issue): D1020-6, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24234438
17.
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nat Genet
; 39(4): 454-6, 2007 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-17353897
18.
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
BMC Oral Health
; 15: 14, 2015 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-25636655
19.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25044680
20.
Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet
; 15: 156, 2014 Dec 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-25544508