F. Fakhfakh

发表

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

A. Tlili, Nadege Kammoun Jellouli, I. H. Salem, 2013, Gene.

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members

H. Turki, F. Fakhfakh, Ghada Ben Salah, 2014, Molecular Biology Reports.

Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency

N. Miled, N. Louhichi, F. Fakhfakh, 2017, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Relevance of GJC2 promoter mutation in Pelizaeus‐Merzbacher–like disease

E. Bertini, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2012, Annals of neurology.

Increased levels of autoantibodies against catalase and superoxide dismutase associated with oxidative stress in patients with rheumatoid arthritis and systemic lupus erythematosus

S. Lassoued, Hammadi Attia, H. Attia, 2008, Scandinavian journal of rheumatology.

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

V. Barbu, F. Fakhfakh, H. Kamoun, 2019, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2016, Biochemical and biophysical research communications.

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.

F. Fakhfakh, W. Chaari, S. Younes, 2009, Pediatric neurology.

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.

M. Hchicha, F. Fakhfakh, I. Chabchoub, 2012, Gene.

Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity.

N. Kharrat, Ahmed Rebai, M. Abid, 2013, Gene.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

H. Turki, N. Louhichi, F. Fakhfakh, 2019, Orphanet Journal of Rare Diseases.

A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.

N. Charfi, M. Abid, F. Fakhfakh, 2015, Biochemical and biophysical research communications.

Analysis of azoospermia factor loci polymorphisms among Tunisian infertile men with varicocele.

I. H. Salem, F. Fakhfakh, H. Ayadi, 2010, Genetic testing and molecular biomarkers.

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

A. Tlili, I. H. Salem, E. Ellouz, 2014, Journal of Human Genetics.

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2011, Bioscience reports.

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

M. Abid, F. Fakhfakh, I. Chamkha, 2014, Pathologie-biologie.

Protective effects of pomegranate peel against hematotoxicity, chromosomal aberrations, and genotoxicity induced by barium chloride in adult rats

N. Zeghal, F. Fakhfakh, Ghada Ben Salah, 2016, Pharmaceutical biology.

Sperm DNA fragmentation and oxidation are independent of malondialdheyde

F. Fakhfakh, L. Keskes, J. Gargouri, 2011, Reproductive biology and endocrinology : RB&E.

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

A. Tlili, F. Fakhfakh, A. Gargouri, 2012, Molecular Biology Reports.

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation

A. Tlili, F. Fakhfakh, F. Frikha, 2022, neurogenetics.

Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein

F. Fakhfakh, F. Frikha, Olfa Jallouli, 2022, Journal of Molecular Neuroscience.

A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.

N. Charfi, M. Abid, F. Fakhfakh, 2013, Biochemical and biophysical research communications.

The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.

N. Charfi, M. Abid, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.

A. Tlili, F. Fakhfakh, A. Gargouri, 2013, Gene.

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980‐1982delAA) in two unrelated Tunisian families with Bloom syndrome

H. Turki, I. H. Salem, F. Fakhfakh, 2014, Journal of the European Academy of Dermatology and Venereology : JEADV.

Clinical and laboratory findings in 8 patients with Bloom's syndrome.

H. Turki, F. Fakhfakh, S. Marrakchi, 2012, Journal of dermatological case reports.

Retracted: Genotyping of Tunisian azoospermic men with Sertoli cell‐only and maturation arrest

F. Fakhfakh, H. Ayadi, I. Hadj Salem, 2011, Andrologia.

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

F. Fakhfakh, J. Bouguila, L. Boughamoura, 2018, Biochemical and biophysical research communications.

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

I. H. Salem, F. Fakhfakh, N. Mezghani, 2011, Journal of Human Genetics.

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients

C. Mhiri, N. Louhichi, F. Fakhfakh, 2003, Neuromuscular Disorders.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

Severe Wolfram Syndrome Caused by a Novel Frameshift Mutation in WFS1 Gene: Effect on the WFS1/CaM Interaction and Phenotype-Genotype Correlation

F. Fakhfakh, M. Abid, B. Zantour, 2021, Open Journal of Genetics.

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity

J. Fischer, N. Miled, H. Turki, 2019, Molecular genetics & genomic medicine.

Hyparrhenia hirta: A potential protective agent against hematotoxicity and genotoxicity of sodium nitrate in adult rats

N. Zeghal, F. Fakhfakh, G. B. Salah, 2015, Environmental toxicology.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene

F. Fakhfakh, N. Belguith, Dhoha Dhieb, 2016, Molecular Biology Reports.

gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.

F. Fakhfakh, A. Sellami, L. Ammar-keskes, 2016, Gene.

Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men.

F. Fakhfakh, A. Sellami, L. Ammar-keskes, 2014, Gene.

Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men.

K. McElreavey, F. Fakhfakh, F. Abdallah, 2012, Genetic testing and molecular biomarkers.

[Hemoglobin beta S haplotype in the Kebili region (southern Tunisia)].

M. Frikha, M. Harrabi, F. Fakhfakh, 1998, Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

H. Turki, N. Louhichi, F. Fakhfakh, 2012, Molecular Biology Reports.

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

A. Gargouri, F. Fakhfakh, E. Ellouze, 2017, Journal of child neurology.

Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect

N. Louhichi, F. Fakhfakh, M. Medhaffar, 2010, Annals of Hematology.

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations

F. Fakhfakh, M. Hachicha, L. Keskes, 2020, Journal of Molecular Neuroscience.

Enhanced reactivity to malondialdehyde-modified proteins by systemic lupus erythematosus autoantibodies

S. Lassoued, Hammadi Attia, H. Attia, 2010, Scandinavian journal of rheumatology.

Pustular psoriasis of pregnancy: Clinical and genetic characteristics in a series of eight patients and review of the literature

H. Turki, F. Fakhfakh, S. Marrakchi, 2022 .

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

N. Romero, B. Estournet, S. Quijano-roy, 2004, Neurogenetics.

An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population

F. Fakhfakh, H. Ayadi, Ghada Ben Salah, 2012, Molecular Biology Reports.

Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations

Ahmed Rebai, A. Maâlej, F. Fakhfakh, 2012, International journal of immunogenetics.

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

F. Fakhfakh, J. Hachicha, F. Jarraya, 2017, BMC Nephrology.

A double mutation in AGXT gene in families with primary hyperoxaluria type 1.

F. Fakhfakh, I. Hadj Salem, J. Hachicha, 2013, Gene.

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

F. Fakhfakh, C. Triki, Boudour Khabou, 2017, Clinica chimica acta; international journal of clinical chemistry.

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

F. Fakhfakh, N. Belguith, Olfa Siala, 2013, Iranian journal of pediatrics.

Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man.

A. Saâd, F. Fakhfakh, F. Ben Abdallah, 2013, Biochemical and biophysical research communications.

Chromosomal defects in infertile men with poor semen quality

F. Fakhfakh, H. Kamoun, N. Belguith, 2012, Journal of Assisted Reproduction and Genetics.

Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.

F. Fakhfakh, A. Sellami, L. Ammar-keskes, 2014, Gene.

Screening of ΔF508 mutation and IVS8‐poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD

F. Fakhfakh, A. Bahloul, M Ghorbel, 2012, Andrologia.

Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

F. Fakhfakh, A. Sellami, E. Mkaouar-Rebai, 2014, Journal of Assisted Reproduction and Genetics.

Effect of freezing-thawing process and quercetin on human sperm survival and DNA integrity.

T. Rebai, F. Fakhfakh, L. Keskes, 2012, Cryobiology.

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

J. Fischer, H. Turki, F. Fakhfakh, 2022, BMC medical genomics.

A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.

F. Fakhfakh, M. Hachicha, I. Chamkha, 2013, Biochemical and biophysical research communications.

Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population.

F. Fakhfakh, I. Chamkha, A. Sellami, 2012, Genetic testing and molecular biomarkers.

Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD

F. Fakhfakh, C. Triki, Boudour Khabou, 2018, Journal of Molecular Neuroscience.

First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.

F. Fakhfakh, N. Gouider-Khouja, Ghada Ben Salah, 2018, Biochemical and biophysical research communications.

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

A. Tlili, F. Fakhfakh, L. Keskes, 2017, Biochemical and biophysical research communications.

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

F. Fakhfakh, M. Hachicha, L. Keskes, 2016, Biochemical and biophysical research communications.

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.

F. Fakhfakh, M. Hachicha, L. Keskes, 2016, Biochemical and biophysical research communications.

A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy

F. Fakhfakh, M. Hachicha, I. Chamkha, 2014, Mitochondrial DNA.

Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study

F. Fakhfakh, I. Chamkha, N. Mezghani, 2013, Mitochondrial DNA.

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

F. Fakhfakh, A. Sellami, E. Mkaouar-Rebai, 2013, Molecular Biology Reports.

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

F. Fakhfakh, C. Kifagi, M. Hachicha, 2011, Biochemical and biophysical research communications.

Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene

F. Kammoun, F. Fakhfakh, I. Chamkha, 2011, Journal of child neurology.

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome

F. Kammoun, F. Fakhfakh, C. Triki, 2019, International Journal of Developmental Neuroscience.

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.

DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.

I. Ayadi, F. Fakhfakh, H. Ayadi, 2012, Genetic testing and molecular biomarkers.

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

V. Barbu, F. Fakhfakh, C. Housset, 2017, The international journal of biochemistry & cell biology.

Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene

Olfa Siala, Faiza Fakhfakh, Afif Ben Mahmoud, 2015, Comput. Biol. Chem..

New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures

Ahmed Rebai, I. H. Salem, F. Kammoun, 2011, European journal of neurology.

The First Genome-Wide Scan in a Tunisian Family With Generalized Epilepsy With Febrile Seizure Plus (GEFS+)

Ahmed Rebai, I. H. Salem, N. Louhichi, 2010, Journal of child neurology.

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2009, European journal of neurology.

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

N. Louhichi, F. Fakhfakh, F. Baklouti, 2008, Neuromuscular Disorders.

Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity

M. Abid, F. Fakhfakh, D. Ghorbel, 2018 .

Hematotoxicity and Genotoxicity of Mercuric Chloride Following Subchronic Exposure Through Drinking Water in Male Rats

F. Fakhfakh, Ghada Ben Salah, H. Kamoun, 2012, Biological Trace Element Research.

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2012, Molecular Biology Reports.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

A. Smahi, C. Bodemer, A. Munnich, 2011, The New England journal of medicine.

α Heavy chain disease αmRNA contain nucleotide sequences of unknown origins

A. Tsapis, K. Dellagi, F. Fakhfakh, 1992 .

Factor XIII deficiency in south of Tunisia

N. Louhichi, F. Fakhfakh, M. Hachicha, 2017, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Unusual double mutation in MECP2and CDKL5 genes in Rett-like Syndrome: correlation with phenotype and genes expression.

F. Fakhfakh, F. Kamoun, R. Ghorbel, 2020, Clinica chimica acta; international journal of clinical chemistry.

A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations

M. Abid, A. Tlili, F. Fakhfakh, 2022 .

Functional Analysis of the C.3705+5G>C Mutation in the SCN1A Gene:Cryptic Splicing Site Activation and Partial Exon Skipping

A. Tlili, F. Fakhfakh, A. Benmahmoud, 2016 .

In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease

Faiza Fakhfakh, Emna Mkaouar-Rebai, Boudour Khabou, 2016, Comput. Biol. Chem..

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.

F. Fakhfakh, N. Belguith, R. B. Mansour, 2013, Gene.

Subtle discrepancies of SF2/ASF ESE sequence motif among human tissues: A computational approach

Ahmed Rebai, Olfa Siala, Faouzi Baklouti, 2010, Comput. Biol. Chem..

Analysis of Immunoglobulin VH and TCR Cβ Polymorphisms in a Large Family with Thyroid Autoimmune Disorder

M. Abid, A. Maâlej, F. Fakhfakh, 1999, Experimental and Clinical Immunogenetics.

Polymorphism of the human immunoglobulin heavy chain locus in rheumatoid arthritis.

A. Maâlej, F. Fakhfakh, H. Ayadi, 1997, Autoimmunity.

First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene

A. Tlili, F. Fakhfakh, K. Monastiri, 2022 .

First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy.

F. Fakhfakh, L. Keskes, N. Belguith, 2018, Biochemical and biophysical research communications.

Chromosomal Aberrations (CA), Sister Chromatid Exchanges (SCE), and High-Frequency Cells (HFC) Frequencies in Peripheral Blood Lymphocytes of Tunisian Gasoline Truck Loaders

Ahmed Rebai, F. Fakhfakh, Ghada Ben Salah, 2013 .

Sister chromatid exchange (SCE) and high-frequency cells (HFC) in peripheral blood lymphocytes of healthy Tunisian smokers.

Ahmed Rebai, F. Fakhfakh, Ghada Ben Salah, 2011, Mutation research.

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

V. Barbu, N. Miled, F. Fakhfakh, 2021, Clinica chimica acta; international journal of clinical chemistry.

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

F. Fakhfakh, Z. Abdelkafi, C. Triki, 2009, Genetic testing and molecular biomarkers.

Signal transducer and activator of transcription and the risk of rheumatoid arthritis and thyroid autoimmune disorders.

H. Mbarek, Ahmed Rebai, A. Maâlej, 2011, Clinical and experimental rheumatology.

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients

F. Fakhfakh, C. Triki, N. Fendri-Kriaa, 2015, Journal of child neurology.

Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?

F. Fakhfakh, Ghada Ben Salah, I. Chamkha, 2018, Environmental Science and Pollution Research.

Polymorphisms of glutathione S-transferases M1, T1, P1 and A1 genes in the Tunisian population: an intra and interethnic comparative approach.

F. Fakhfakh, Ghada Ben Salah, H. Kamoun, 2012, Gene.

Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

V. Barbu, F. Fakhfakh, Boudour Khabou, 2018, Clinica chimica acta; international journal of clinical chemistry.

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.

Anticyclic Citrullinated Peptide Antibody and Rheumatoid Factor in South Tunisian Patients With Rheumatoid Arthritis: Association With Disease Activity and Severity

Ahmed Rebai, A. Maâlej, F. Fakhfakh, 2014, Journal of clinical laboratory analysis.

Association study of human leukocyte antigen-DRB1 alleles with rheumatoid arthritis in south Tunisian patients

A. Maâlej, F. Fakhfakh, S. Marzouk, 2012, Clinical Rheumatology.

Hematotoxicity and Genotoxicity of Mercuric Chloride Following Subchronic Exposure Through Drinking Water in Male Rats

F. Fakhfakh, Ghada Ben Salah, H. Kamoun, 2012, Biological Trace Element Research.

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

F. Fakhfakh, C. Triki, H. Kammoun, 2017, Acta Neurologica Belgica.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

F. Fakhfakh, C. Kifagi, E. Ellouze, 2011, Biochemical and biophysical research communications.

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

N. Louhichi, F. Fakhfakh, R. Zemni, 2010, Journal of child neurology.

Mutation Gene in Tunisian Patients With Rett Syndrome : A Novel Double MECP 2 Mutational Analysis of the

N. Louhichi, F. Fakhfakh, R. Zemni, 2010 .

Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure

A. Tlili, I. H. Salem, F. Fakhfakh, 2010, Genetics and molecular biology.

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Gene.

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.

N. Charfi, M. Abid, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

The CAG repeat polymorphism of mitochondrial polymerase gamma (POLG) is associated with male infertility in Tunisia

F. Fakhfakh, A. Sellami, L. Ammar-keskes, 2012, Andrologia.

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2012, Molecular Biology Reports.

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

A. Tlili, F. Fakhfakh, J. Bouguila, 2016, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

F. Fakhfakh, C. Kifagi, M. Hachicha, 2012, Biochemical and biophysical research communications.

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes

M. Abid, F. Fakhfakh, L. Keskes, 2020, Molecular genetics & genomic medicine.

A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder

F. Kammoun, F. Fakhfakh, I. Chamkha, 2010, Journal of child neurology.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

L. Villard, F. Kammoun, F. Fakhfakh, 2021, Orphanet Journal of Rare Diseases.

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.

F. Fakhfakh, M. Hachicha, L. Keskes, 2018, Biochemical and biophysical research communications.

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

N. Charfi, M. Abid, F. Fakhfakh, 2010, Journal of diabetes and its complications.

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

A. Tlili, S. Masmoudi, F. Fakhfakh, 2007, Biochemical and Biophysical Research Communications - BBRC.

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

N. Charfi, M. Abid, F. Fakhfakh, 2013, The journal of sexual medicine.

Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.

M. Ben Amor, A. Tlili, S. Masmoudi, 2006, Biochemical and biophysical research communications.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

P. Guicheney, P. Richard, N. Louhichi, 2006, Archives de l'Institut Pasteur de Tunis.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

A. Tlili, S. Masmoudi, N. Louhichi, 2010, Bioscience reports.

A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

F. Fakhfakh, C. Triki, L. Ammar-keskes, 2018, International Journal of Developmental Neuroscience.

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.

F. Fakhfakh, M. Hachicha, I. Chamkha, 2011, Biochemical and biophysical research communications.

Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Journal of child neurology.

Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.

N. Charfi, M. Abid, A. Tlili, 2017, Journal of diabetes and its complications.

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members

H. Turki, F. Fakhfakh, Ghada Ben Salah, 2014, Molecular Biology Reports.

Evidence of Mutational Heterogeneity of the ALDH7A1 Gene in Tunisian Families: Molecular and Insilico Investigations

A. Tlili, F. Fakhfakh, E. Mkaouar-Rebai, 2016 .

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

A. Tlili, F. Fakhfakh, A. Gargouri, 2012, Molecular Biology Reports.

Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation

F. Fakhfakh, M. Hachicha, R. Felhi, 2021, Molecular Biology Reports.

Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene

Ahmed Rebai, F. Fakhfakh, Boudour Khabou, 2018, Annals of human genetics.

A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men

F. Fakhfakh, A. Sellami, E. Mkaouar-Rebai, 2013, Molecular reproduction and development.

[Alpha heavy chain disease. Molecular analysis of a new case].

A. Tsapis, F. Fakhfakh, H. Ayadi, 1993, Presse medicale.

Alpha heavy chain disease alpha mRNA contain nucleotide sequences of unknown origins.

A. Tsapis, K. Dellagi, F. Fakhfakh, 1992, European journal of immunology.

A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation

A. Fendri, A. Tlili, F. Fakhfakh, 2023, Metabolic Brain Disease.

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.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

H. Turki, N. Louhichi, F. Fakhfakh, 2012, Molecular Biology Reports.

A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles.

F. Fakhfakh, M. Hachicha, I. Chamkha, 2010, Mitochondrion.

Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene

F. Fakhfakh, E. Mkaouar-Rebai, Olfa Siala, 2015, Comput. Biol. Chem..

Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations

Ahmed Rebai, A. Maâlej, F. Fakhfakh, 2012, International journal of immunogenetics.

Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

F. Kammoun, F. Fakhfakh, C. Triki, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene

F. Fakhfakh, N. Belguith, Dhoha Dhieb, 2016, Molecular Biology Reports.

A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity

A. Tlili, F. Fakhfakh, C. Triki, 2023, Journal of Molecular Neuroscience.

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.

A. Tlili, S. Masmoudi, F. Fakhfakh, 2008, Biochemical and biophysical research communications.

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.

F. Fakhfakh, M. Hachicha, I. Chamkha, 2011, Biochemical and biophysical research communications.

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2009, Molecular genetics and metabolism.

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

F. Fakhfakh, B. Khemakhem, A. B. Chehida, 2023, Annals of human genetics.

First report of Tunisian patients with CDKL5‐related encephalopathy

S. Weckhuysen, F. Fakhfakh, Marwa Ben Jdila, 2023, Epilepsia open.