M. Charif

发表

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

Majida Charif, G. Lenaers, H. Charoute, 2022, Orphanet Journal of Rare Diseases.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

Majida Charif, Y. Bentata, Saida Lhousni, 2020, BioMed research international.

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

H. Charoute, A. Bakhchane, H. Rouba, 2016, European journal of medical genetics.

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss.

H. Benrahma, H. Rouba, A. Barakat, 2010, International journal of pediatric otorhinolaryngology.

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.

C. Petit, G. Lenaers, A. Barakat, 2020, International journal of pediatric otorhinolaryngology.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Majida Charif, G. Lenaers, H. Charoute, 2017, PloS one.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency

G. Lenaers, J. Chelly, N. Leboucq, 2021, Neuropediatrics.

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2018, Front. Genet..

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Majida Charif, G. Lenaers, H. Charoute, 2017, International journal of pediatric otorhinolaryngology.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American journal of human genetics.

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

Majida Charif, H. Rouba, A. Barakat, 2012, Molecular Biology Reports.

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Majida Charif, G. Lenaers, H. Charoute, 2015, Gene.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Majida Charif, P. Amati‐Bonneau, G. Lenaers, 2020, Retina.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American journal of human genetics.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

Majida Charif, Saida Lhousni, Ihab Belmokhtar, 2022, Molecular genetics & genomic medicine.

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes

G. Lenaers, A. Barakat, M. Kandil, 2021, Molecular vision.

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

B. Delprat, Majida Charif, G. Lenaers, 2012, Biochemical and biophysical research communications.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

F. Rivier, Majida Charif, G. Lenaers, 2015, Human molecular genetics.

AP4 deficiency

F. Rivier, B. Echenne, R. Horvath, 2018, Neurology: Genetics.

A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability.

Majida Charif, G. Lenaers, H. Charoute, 2022, European journal of medical genetics.

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2021, Frontiers in Neurology.

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

D. Krainc, D. Bonneau, P. Amati‐Bonneau, 2021, Molecular neurodegeneration.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

N. Boddaert, Majida Charif, D. Bonneau, 2017, Brain : a journal of neurology.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Majida Charif, G. Lenaers, C. Goizet, 2015, Front. Genet..

Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility

Majida Charif, H. Benrahma, H. Rouba, 2012, PloS one.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Molecular Biology Reports.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2019, Clinica chimica acta; international journal of clinical chemistry.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant

J. Leid, V. Desquiret-Dumas, Majida Charif, 2015, American journal of medical genetics. Part A.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Scientific data.

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

Majida Charif, G. Lenaers, H. Rouba, 2011, Molecular vision.

First characterization of LHON pedigrees in North Africa

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Eye.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

Majida Charif, G. Lenaers, H. Benrahma, 2013, Indian journal of human genetics.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Majida Charif, G. Lenaers, A. Bakhchane, 2015, PloS one.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

C. Fallet-Bianco, A. Laquérriere, C. Bris, 2019, American journal of medical genetics. Part A.

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

G. Lenaers, Saida Lhousni, Redouane Boulouiz, 2023, Bone.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome

G. Lenaers, F. Fakhfakh, F. Frikha, 2023, Metabolic Brain Disease.

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.

G. Lenaers, A. Bakhchane, H. Rouba, 2013, Gene.

First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.

Majida Charif, G. Lenaers, H. Charoute, 2022, Archives of oral biology.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.

Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population

Majida Charif, S. Abdelhak, H. Benrahma, 2011, Journal of Community Health.

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

G. Lenaers, H. Charoute, A. Bakhchane, 2015, Gene.

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family

G. Lenaers, H. Charoute, A. Bakhchane, 2017, Molecular Biology Reports.

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

H. Rouba, A. Barakat, Redouane Boulouiz, 2012, Molecular Biology Reports.

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm

G. Lenaers, S. Gerber, J. Kaplan, 2023, Brain : a journal of neurology.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

G. Lenaers, Morgane Le Mao, R. Kefi, 2024, Frontiers in genetics.

Characterization of SSBP1-related optic atrophy and foveopathy

M. Picot, Majida Charif, G. Lenaers, 2021, Scientific Reports.

Novel variant in Moroccan patient with hereditary spastic paraplegia type 35

A. Barakat, Halima Nahili, Aymane Bouzidi, 2023, Human Gene.

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

F. Rivier, G. Lenaers, N. Leboucq, 2019, Annals of clinical and translational neurology.

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Jing Wang, G. Lenaers, J. Ceccato, 2024, Cellular and molecular life sciences : CMLS.

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Majida Charif, H. Rouba, A. Barakat, 2012, PloS one.

Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.

Saida Lhousni, Ihab Belmokhtar, Zaina Sidqi, 2024, Clinical biochemistry.