Publications by authors named "Abdelaziz Sefiani"

92Publications

Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations.

Clin Chim Acta 2020 Jul 10;506:28-32. Epub 2020 Mar 10.

Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090 Rabat, Morocco.

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http://dx.doi.org/10.1016/j.cca.2020.03.018DOI Listing
July 2020

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

J Med Case Rep 2019 Aug 23;13(1):266. Epub 2019 Aug 23.

Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-019-2203-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706917PMC
August 2019

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

BMC Med Genet 2018 07 18;19(1):118. Epub 2018 Jul 18.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12881-018-0625-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052603PMC
July 2018

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.

Anatol J Cardiol 2018 Jul;20(1):65-68

Research Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat; Rabat-Morocco.

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http://www.anakarder.com/jvi.aspx?pdir=anatoljcardiol&pl
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http://dx.doi.org/10.14744/AnatolJCardiol.2018.69639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237802PMC
July 2018

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.

J Med Case Rep 2018 Mar 1;12(1):53. Epub 2018 Mar 1.

Human Genomic Centre, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-017-1552-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831228PMC
March 2018

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Cytogenet Genome Res 2017 16;153(2):66-72. Epub 2017 Dec 16.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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https://www.karger.com/Article/FullText/485071
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http://dx.doi.org/10.1159/000485071DOI Listing
February 2018

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Eur J Med Genet 2018 Apr 7;61(4):189-196. Epub 2017 Dec 7.

Institute of Medical Genetics, University of Zurich, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2017.12.002DOI Listing
April 2018

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Clin Rheumatol 2018 03;37(3):857

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.

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http://dx.doi.org/10.1007/s10067-017-3909-xDOI Listing
March 2018

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Pediatr Rheumatol Online J 2017 Sep 26;15(1):72. Epub 2017 Sep 26.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12969-017-0200-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615433PMC
September 2017

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Clin Dysmorphol 2017 Oct;26(4):200-204

aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000198DOI Listing
October 2017

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Gene 2017 Sep 8;628:190-193. Epub 2017 Jul 8.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University in Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.gene.2017.07.011DOI Listing
September 2017

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

J Med Case Rep 2017 Jun 15;11(1):158. Epub 2017 Jun 15.

Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-017-1311-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471900PMC
June 2017

Associations between clinical characteristics and angiotensin-converting enzyme gene insertion/deletion polymorphism in Moroccan population with Type-2 diabetic nephropathy.

Saudi J Kidney Dis Transpl 2017 Mar-Apr;28(2):261-267

Department of Nephrology, Dialysis and Kidney Transplantation, Faculty of Medicine and Pharmacy, Ibn Sina Hospital, University Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.4103/1319-2442.202792DOI Listing
July 2019

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Eur J Hum Genet 2017 06 15;25(6):783-787. Epub 2017 Mar 15.

Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477358PMC
June 2017

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Eur J Med Genet 2017 May 27;60(5):239-244. Epub 2017 Feb 27.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2017.02.004DOI Listing
May 2017

Non lethal Raine syndrome and differential diagnosis.

Eur J Med Genet 2016 Nov 22;59(11):577-583. Epub 2016 Sep 22.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.018DOI Listing
November 2016

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.

Iran J Public Health 2016 Jun;45(6):739-47

Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026828PMC
June 2016

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Eur J Med Genet 2016 Oct 12;59(10):507-11. Epub 2016 Sep 12.

Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.004DOI Listing
October 2016

NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs.

Genet Test Mol Biomarkers 2016 Nov 19;20(11):680-684. Epub 2016 Aug 19.

1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco .

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http://dx.doi.org/10.1089/gtmb.2016.0060DOI Listing
November 2016

First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the gene.

Oncol Lett 2016 Aug 16;12(2):1192-1196. Epub 2016 Jun 16.

Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco; Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco.

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https://www.spandidos-publications.com/10.3892/ol.2016.4739
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http://dx.doi.org/10.3892/ol.2016.4739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950805PMC
August 2016

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Am J Med Genet A 2016 09 6;170(9):2462-5. Epub 2016 Jul 6.

Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.37839DOI Listing
September 2016

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.

J Med Case Rep 2016 May 13;10(1):122. Epub 2016 May 13.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-016-0830-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868013PMC
May 2016

20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.

BMC Res Notes 2016 Jan 2;9. Epub 2016 Jan 2.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco.

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http://dx.doi.org/10.1186/s13104-015-1828-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698322PMC
January 2016

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

J Med Case Rep 2015 Nov 5;9:254. Epub 2015 Nov 5.

Université d'Orléans & CNRS, INEM-UMR7355, Immunologie Expérimentale et Moléculaire & Neurogénétique, Orléans, France.

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http://dx.doi.org/10.1186/s13256-015-0732-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635607PMC
November 2015

A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.

J Med Case Rep 2015 Oct 28;9:245. Epub 2015 Oct 28.

Faculty of Dentistry Rabat, Centre for Dental Consultation and Treatment, Department of Pediatric Dentistry, University Mohammed V Rabat, avenue Allal el Fassi, rue Mohammed Jazoulit cité Al Irfane BP 6212 Rabat Institut, 10000, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-015-0724-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624603PMC
October 2015

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.

Genet Test Mol Biomarkers 2015 Nov 18;19(11):623-8. Epub 2015 Sep 18.

1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Maroc.

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http://dx.doi.org/10.1089/gtmb.2015.0136DOI Listing
November 2015

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Mol Syndromol 2015 Jul 11;6(2):77-82. Epub 2015 Jun 11.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, France ; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco, France.

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http://dx.doi.org/10.1159/000430970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521058PMC
July 2015

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Mol Syndromol 2015 Feb 28;6(1):44-9. Epub 2015 Jan 28.

Département de Génétique Médicale, Institut National d'Hygiène, France ; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, France.

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http://dx.doi.org/10.1159/000371590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369116PMC
February 2015

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.

J Med Case Rep 2014 Dec 29;8:471. Epub 2014 Dec 29.

Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Angle Avenue Allal El Fassi et Mfadel Cherkaoui, 10100 Rabat, Morocco.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-8-471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320515PMC
December 2014

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.

BMC Genet 2014 Dec 29;15:156. Epub 2014 Dec 29.

Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12863-014-0156-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299568PMC
December 2014

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Pediatr Neurol 2014 Nov 12;51(5):741-4. Epub 2014 Jul 12.

Neurology and Neurosurgery Department, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.009DOI Listing
November 2014

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Afr Health Sci 2014 Jun;14(2):468-71

Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco ; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.4314/ahs.v14i2.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196389PMC
June 2014

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Eur J Hum Genet 2015 Jul 15;23(7):957-62. Epub 2014 Oct 15.

1] Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France [2] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

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http://dx.doi.org/10.1038/ejhg.2014.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463501PMC
July 2015

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.

J Med Case Rep 2014 Sep 3;8:291. Epub 2014 Sep 3.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Av, Mohamed Belarbi El Alaoui, Rabat 6203 Rabat, Morocco.

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http://dx.doi.org/10.1186/1752-1947-8-291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158768PMC
September 2014

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Mol Cytogenet 2014 5;7:40. Epub 2014 Jun 5.

Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco ; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/1755-8166-7-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068972PMC
June 2014

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.

Indian J Hum Genet 2014 Jan;20(1):89-91

Department of Medical Genetics, National Institute of Health, Morocco, Africa ; Human Genomic Center, University Mohamed V Souissi, Rabat, Morocco, Africa.

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http://www.ijhg.com/text.asp?2014/20/1/89/132767
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http://dx.doi.org/10.4103/0971-6866.132767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065488PMC
January 2014

Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.

Nucleic Acids Res 2014 Jan 14;42(Database issue):D1020-6. Epub 2013 Nov 14.

Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece, Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, GR-26504, Patras, Greece, Faculty of Medicine and Pharmacy, Human Genomic Center, University Mohammed V Souissi, 11400, Rabat, Morocco and Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-26334, Patras, Greece.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt1125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964978PMC
January 2014

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

J Am Coll Cardiol 2014 Jan 25;63(3):259-66. Epub 2013 Sep 25.

Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2013.07.091DOI Listing
January 2014

[Russell Silver syndrome: report of three cases and review of the literature].

Pan Afr Med J 2013 8;14:91. Epub 2013 Mar 8.

Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohammed V Souissi, Rabat, Maroc.

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http://dx.doi.org/10.11604/pamj.2013.14.91.1645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664885PMC
September 2013

Renal amyloidosis due to familial mediterranean fever misdiagnosed.

Indian J Hum Genet 2012 Sep;18(3):363-5

Human Genomic Center, Faculty of Medicine and Pharmacy, University Mohammed V Souissi, Rabat, Morocco ; Department of Medical Genomic, National Institute of Health, Rabat, Morocco.

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http://dx.doi.org/10.4103/0971-6866.108043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656531PMC
September 2012

Germline mosaicism in Rubinstein-Taybi syndrome.

Gene 2013 Apr 23;518(2):476-8. Epub 2013 Jan 23.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Maroc.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119130004
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http://dx.doi.org/10.1016/j.gene.2012.12.105DOI Listing
April 2013

[Prenatal diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH): about the first tests in Morocco].

Pan Afr Med J 2012 22;13:38. Epub 2012 Oct 22.

Centre de génomique humaine, Faculté de Médecine et Pharmacie, Université Mohammed V Souissi, Rabat, Maroc.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542787PMC
July 2013

[Costello syndrome: report of a case].

Pan Afr Med J 2012 4;12:64. Epub 2012 Jul 4.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Maroc.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3450926PMC
March 2013

An inherited LMNA gene mutation in atypical Progeria syndrome.

Am J Med Genet A 2012 Nov 18;158A(11):2881-7. Epub 2012 Sep 18.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.35557DOI Listing
November 2012

Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.

Genet Test Mol Biomarkers 2012 Aug 18;16(8):996-8. Epub 2012 Jul 18.

Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1089/gtmb.2012.0011DOI Listing
August 2012

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Eur J Med Genet 2012 Oct 20;55(10):535-40. Epub 2012 Jul 20.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.006DOI Listing
October 2012

Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco.

Genet Test Mol Biomarkers 2012 Aug 17;16(8):981-3. Epub 2012 Apr 17.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1089/gtmb.2011.0353DOI Listing
August 2012

Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco.

Genet Test Mol Biomarkers 2012 Jun 16;16(6):569-73. Epub 2012 Apr 16.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0265
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http://dx.doi.org/10.1089/gtmb.2011.0265DOI Listing
June 2012

Moroccan consanguineous family with Becker myotonia and review.

Ann Indian Acad Neurol 2011 Oct;14(4):307-9

Human Genomic Center, Faculty of medicine and pharmacy, University Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.4103/0972-2327.91963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271475PMC
October 2011

Frequencies of CYP3A5*1/*3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients.

Genet Test Mol Biomarkers 2012 Jun 3;16(6):644-7. Epub 2012 Feb 3.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0240
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http://dx.doi.org/10.1089/gtmb.2011.0240DOI Listing
June 2012

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

J Dermatol 2012 Apr 29;39(4):382-4. Epub 2011 Dec 29.

Center of Human Genomics, University Mohammed V Souissi Department of Medical Genetics, Morocco.

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http://dx.doi.org/10.1111/j.1346-8138.2011.01453.xDOI Listing
April 2012

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.

Genet Test Mol Biomarkers 2012 Mar 27;16(3):215-8. Epub 2011 Sep 27.

Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohamed V Souissi, Rabat, Morocco.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0149
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http://dx.doi.org/10.1089/gtmb.2011.0149DOI Listing
March 2012

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Turk J Pediatr 2010 Sep-Oct;52(5):525-8

Department of Medical Genetics, National Institute of Health, Morocco.

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April 2011

MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.

Rheumatol Int 2012 Apr 19;32(4):981-4. Epub 2011 Jan 19.

Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769, Rabat, Morocco.

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http://dx.doi.org/10.1007/s00296-010-1732-7DOI Listing
April 2012

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

Am J Med Genet A 2010 Nov;152A(11):2850-3

Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.33685DOI Listing
November 2010

Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report.

Int J Pediatr Otorhinolaryngol 2010 Sep 15;74(9):1092-4. Epub 2010 Jul 15.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ijporl.2010.06.011DOI Listing
September 2010

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Clin Rheumatol 2010 01 1;29(1):119-21. Epub 2009 Oct 1.

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.

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http://dx.doi.org/10.1007/s10067-009-1283-zDOI Listing
January 2010

The Moroccan human mutation database.

Indian J Hum Genet 2008 Sep;14(3):106-7

Department of Medical Genetics, National Institute of Health, 27 avenue Ibn Batouta, 9654 Rabat, Morocco.

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http://dx.doi.org/10.4103/0971-6866.45004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840800PMC
September 2008

Unexpected fertility and paternal UPD 22.

Fertil Steril 2008 Nov 20;90(5):2013.e13-5. Epub 2008 Jun 20.

Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.fertnstert.2008.03.067DOI Listing
November 2008

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

J Cyst Fibros 2008 Sep 1;7(5):440-3. Epub 2008 Feb 1.

Service de Biochimie et Génétique, AP-HP et INSERM U841 équipe 11, groupe hospitalier Henri Mondor-Albert Chenevier, 94010 Créteil, France.

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http://dx.doi.org/10.1016/j.jcf.2007.12.006DOI Listing
September 2008

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Indian J Hum Genet 2007 Sep;13(3):122-4

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat, Morocco.

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http://www.ijhg.com/text.asp?2007/13/3/122/38988
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http://dx.doi.org/10.4103/0971-6866.38988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168139PMC
September 2007

Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.

J Biomed Biotechnol 2007 20;2007(3):61538. Epub 2007 Mar 20.

Département de génétique médicale, Institut National d'Hygiène, Rabat 11400, Morocco.

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http://dx.doi.org/10.1155/2007/61538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1874673PMC
June 2010

Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.

Cardiol Young 2007 Feb 22;17(1):107-9. Epub 2006 Dec 22.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

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http://dx.doi.org/10.1017/S1047951106001338DOI Listing
February 2007

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.

C R Biol 2006 Feb 10;329(2):71-4. Epub 2006 Jan 10.

Laboratoire de génétique, Institut national d'hygiène, 11400 Rabat, Morocco.

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http://dx.doi.org/10.1016/j.crvi.2005.11.005DOI Listing
February 2006

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

J Invest Dermatol 2002 Jul;119(1):70-6

Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1046/j.1523-1747.2002.01809.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173186PMC
July 2002