Abdelaziz Sefiani Selected Research

Malformed Nails (Pachyonychia)

10/2016	Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
10/2015	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

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Abdelaziz Sefiani Research Topics

Disease

2	Microcephaly 01/2018 - 04/2007
2	Tuberculosis (Tuberculoses) 11/2016 - 12/2014
2	Amelogenesis Imperfecta 10/2016 - 10/2015
2	Deafness enamel hypoplasia nail defects 10/2016 - 10/2015
2	Sensorineural Hearing Loss 10/2016 - 10/2015
2	Malformed Nails (Pachyonychia) 10/2016 - 10/2015
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Muscle Weakness 01/2021
1	Skin Diseases (Skin Disease) 01/2020
1	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2020
1	Myeloperoxidase Deficiency 01/2020
1	Inflammation (Inflammations) 01/2020
1	Gonadal dysgenesis XX type deafness 10/2017
1	Ovarian Neoplasms (Ovarian Cancer) 06/2017
1	Diabetic Nephropathies (Diabetic Nephropathy) 03/2017
1	Facioscapulohumeral Muscular Dystrophy 02/2017
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2017
1	Sudden Death 01/2017
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2017
1	Peroxisomal Disorders (Peroxisomal Disorder) 10/2016
1	Primary hyperoxaluria type 1 11/2015
1	Neoplasms (Cancer) 07/2015
1	Cartilage-hair hypoplasia 07/2015
1	Carcinogenesis 07/2015
1	type 4 Waardenburg syndrome 02/2015
1	Congenital Pain Insensitivity 11/2014
1	Anosmia 11/2014
1	Fibroma (Fibromatosis) 09/2014
1	Familial Breast Cancer 06/2014
1	Paroxysmal ventricular fibrillation 01/2014
1	Leigh Disease (Leigh's Disease) 03/2013
1	Neurodegenerative Diseases (Neurodegenerative Disease) 03/2013
1	Seizures (Absence Seizure) 09/2012
1	Amyloidosis 09/2012
1	Breast Neoplasms (Breast Cancer) 03/2011
1	Simpson-Golabi-Behmel syndrome 09/2010
1	Congenital Hypothyroidism (Cretinism) 09/2010
1	Polyploidy 04/2009
1	Infertility (Sterility) 04/2009
1	Polymicrogyria 04/2007
1	Agenesis of Corpus Callosum 04/2007
1	Atrioventricular Block 02/2007
1	X-Linked Mental Retardation (Mental Retardation, X Linked) 12/2003
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2002

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2018 - 04/2007
3	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 09/2010
2	Retinaldehyde (Retinal)IBA 10/2016 - 10/2015
2	DNA (Deoxyribonucleic Acid)IBA 03/2013 - 03/2011
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2021
1	Peroxidase (Myeloperoxidase)IBA 01/2020
1	CytokinesIBA 01/2020
1	EnzymesIBA 01/2020
1	Peptide Hydrolases (Proteases)FDA Link 01/2020
1	Biological ProductsIBA 10/2017
1	C 1310IBA 06/2017
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 03/2017
1	Systemic carnitine deficiencyIBA 01/2017
1	Pyrazinamide FDA LinkGeneric 11/2016
1	Rifampin (Rifampicin)FDA LinkGeneric 11/2016
1	Isoniazid (Ftivazide)FDA LinkGeneric 11/2016
1	Ethambutol (Myambutol)FDA LinkGeneric 11/2016
1	Pharmaceutical PreparationsIBA 11/2016
1	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 11/2015
1	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 07/2015
1	RNA (Ribonucleic Acid)IBA 07/2015
1	Endothelin B ReceptorIBA 02/2015
1	Cytochrome P-450 CYP2E1 (CYP2E1)IBA 12/2014
1	Voltage-Gated Sodium ChannelsIBA 11/2014
1	Calmodulin (Calcium-Dependent Activator Protein)IBA 01/2014
1	Thiamine (Aneurin)FDA Link 03/2013
1	Biotin (Vitamin H)FDA Link 03/2013
1	Colchicine FDA LinkGeneric 09/2012
1	Aurora Kinase CIBA 04/2009
1	Transcription Factors (Transcription Factor)IBA 04/2007
1	Glutamine (L-Glutamine)FDA Link 02/2007
1	Codon (Codons)IBA 02/2007
1	Proline (L-Proline)FDA Link 02/2007
1	polyglutamine-binding protein 1IBA 12/2003
1	DystrophinIBA 01/2002

Therapy/Procedure

1	Therapeutics 02/2017