Accueil › Annuaire des chercheurs › Ilham Ratbi
Ilham Ratbi
Affiliation : Mohammed V University · Institut National d'Hygiène du Maroc · Université Mohammed VI des Sciences et de la Santé · Centre Hospitalier Ibn Sina
- 76Publications (affiliation marocaine)
- 95Publications au total
- 1510Citations
- 20Indice h
Profil de recherche
Ilham Ratbi compte 76 publications référencées (2005–2026). Ses travaux paraissent principalement dans « Genetic Testing and Molecular Biomarkers », « Annales de Dermatologie et de Vénéréologie » et « Journal of Medical Case Reports ». Son article le plus cité, « A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence » (2013), a été cité 179 fois. 12 de ces publications datent des trois dernières années d’activité. Ses travaux sont cosignés avec au moins 12 chercheurs, notamment dans des établissements de France, Allemagne.
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Créer mon profil gratuit Ajouter mes publicationsDomaines de recherche
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
Publications (76)
- Biologic and Molecular Integrative Approach for the Diagnosis of Hemoglobinopathies
- Exploring the healthcare pathway experiences and quality of life of Moroccan children living with rare diseases
- Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing
- Genetic Landscape of NAT2 in the Moroccan Population: Implications for Isoniazid Pharmacogenetics in Tuberculosis
- First Report of TTR Gene Variants in Moroccan Patients with Cardiac Amyloidosis: Implications for Diagnosis and Family Screening
- Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan–Tunisian Delphi Study
- Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
- Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant
- First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report
- Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
- Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review
- High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
- Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
- Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
- Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
- PCR249 Quality of Life of Moroccan Children with Rare Diseases: Evidence from Real-World Data
- 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
- Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
- Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature
- Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
- Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
- Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
- Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
- Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
- Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
- Deciphering the natural history of SCA7 in children
- Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations
- Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Diagnostic moléculaire des mutations récurrentes des gènes XPC et XPA chez les patients marocains atteints de xeroderma pigmentosum
- First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report
- Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
- High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control
- Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
- Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
- GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
- Non lethal Raine syndrome and differential diagnosis
- Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
- First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
- Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene
- NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs
- Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.
- Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
- The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
- Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
- Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1variants in Moroccan population
- Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population
- Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer
- Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
- A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence
- Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
- Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome
- Marfan syndrome and cervical internal carotid artery aneurysm
- Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature
- Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients
- Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco
- Estimation de la prévalence de la mutation p.G352fsdelG du gène PAH de la phénylcétonurie au Maroc
- La fibromatose hyaline juvénile : une nouvelle observation
- Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns
- A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
- L’amyotrophie spinale infantile : cause fréquente des hypotonies congénitales au Maroc
- Moroccan consanguineous family with Becker myotonia and review
- Fistules congénitales de la lèvre inférieure
- Familial Gliomas: Role of TP53 Gene
- Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents
- Severe form of hypoglossia–hypodactylia syndrome associated with complex cardiopathy: A case report
- La mucoviscidose au Maroc, mais où sont passés les malades?
- Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
- Microdélétion 22q11.2 révélée par une hypocalcémie néonatale avec une dysmorphie faciale mineure
- Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco
- The moroccan human mutation database
- La mutation 35delG du gène de la connexine 26, une cause fréquente des surdités non syndromiques autosomiques récessives au Maroc
- Mowat-Wilson syndrome in a Moroccan consanguineous family
- L'Angine de la mononucléose infectieuse: Un piège diagnostique pour l'anatomopathologiste
Revues de publication
- Genetic Testing and Molecular Biomarkers × 4
- Annales de Dermatologie et de Vénéréologie × 3
- Journal of Medical Case Reports × 3
- Indian journal of human genetics × 3
- Molecular Syndromology × 2
- Gene Reports × 2
Publications par année
- 20265
- 20251
- 20246
- 20235
- 20224
- 20215
- 20202
- 20193
- 20181
- 20175
Collaborations
Établissements partenaires : Inserm · Centre Hospitalier Universitaire Hassan II · Université de Picardie Jules Verne · Centre Hospitalier Universitaire Henri-Mondor · Assistance Publique – Hôpitaux de Paris
Pays des co-auteurs : France · Allemagne
Co-auteurs
- Abdelaziz Sefiani
- Jaber Lyahyai
- Siham Chafai Elalaoui
- Fatima Zahra Laarabi
- Najlae Adadi
- Imane Cherkaoui Jaouad
- Youssef El Kadiri
- Aziza Sbiti
- Soukaina Guaoua
- Abdelhafid Natiq
- Karim Ouldim
- Yasmina Rahmuni
Données bibliographiques issues d’OpenAlex (base ouverte).
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