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List of works by Faiza Fakhfakh

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: Clinical Evaluations and In Silico Investigations

scientific article published on 10 April 2015

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

scientific article published on 29 June 2011

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

scientific article

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

scientific article published on 7 May 2011

A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder

scientific article published on 4 March 2010

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

scientific article published on 5 September 2013

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

scientific article published on 26 September 2020

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma

scientific article published on 07 June 2019

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

scientific article published on 26 January 2013

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

scientific article published on 17 September 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 6 December 2010

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 21 April 2011

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

scientific article published on 03 April 2011

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

scientific article published on August 2013

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

scientific article

Analysis of Azoospermia Factor Loci Polymorphisms Among Tunisian Infertile Men with Varicocele

scientific article published on 06 September 2010

Anticyclic citrullinated peptide antibody and rheumatoid factor in south Tunisian patients with rheumatoid arthritis: association with disease activity and severity.

scientific article published on 27 December 2013

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

scientific article published on 7 June 2013

Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD.

scientific article

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

scientific article

Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development

scientific journal article

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

scientific article published on 8 December 2011

Chromosomal defects in infertile men with poor semen quality

scientific article

Clinical and genetic aspect of 30 tunisian families with febrile seizures

scientific article published on 01 April 2019

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

scientific article published in March 2012

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

scientific article published on 06 August 2018

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

scientific article published in January 2017

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

scientific article published on 4 December 2017

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.

scientific article

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

scientific article published on 28 May 2014

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

scientific article published on 3 June 2017

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

scientific article published on 24 November 2009

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

scientific article published on 29 November 2012

Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy

scientific article published on 01 October 2004

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

scientific article published on 23 February 2018

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

scientific article

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

scientific article published on 15 July 2014

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

scientific article published on 12 December 2017

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

scientific article

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

scientific article published on 5 January 2015

Factor XIII deficiency in south of Tunisia

scientific article published on 12 July 2017

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.

scientific article published on 23 February 2018

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

scientific article published on 21 October 2019

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

scientific article published on 14 August 2013

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

scientific article

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

scientific article published on 5 February 2018

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

scientific article published on 27 February 2014

Genotyping of Tunisian azoospermic men with Sertoli cell-only and maturation arrest

scientific article published on 06 July 2011

Hematotoxicity and genotoxicity of mercuric chloride following subchronic exposure through drinking water in male rats.

scientific article published on 15 February 2012

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

scientific article published on 17 April 2014

Hypoparathyroidism in children: a study of eight cases

scientific article published on 01 August 2018

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

scientific article

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

scientific article published on 26 December 2019

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

scientific article

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

scientific article published on 2 October 2017

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

scientific article

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

scientific article published on 22 October 2016

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy

scientific article published on 28 November 2007

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family

scientific article

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

scientific article (publication date: 2003)

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.

scientific article

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

scientific article published on 28 March 2016

Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene

scientific article

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

scientific article published on 7 November 2012

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role

scientific article published on December 2008

Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene

scientific article published on 04 June 2010

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

scientific article

Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation

scientific article published on August 2010

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

scientific article

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

scientific article

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

scientific article published on 4 May 2016

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

scientific article published on 03 March 2020

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

scientific article published on April 2011

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

scientific article published on 21 April 2020

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

scientific article

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

scientific article

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

scientific article published on 03 November 2018

Novel double deletions in the MECP2 gene in Tunisian Rett patient

scientific article published on 25 April 2012

Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients

scientific article published on 22 September 2011

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

scientific article published on 2 August 2017

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

scientific article published on January 2010

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

scientific article published on 13 July 2016

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

scientific article published on 25 June 2012

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

scientific article published on 8 February 2013

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

scientific article published on 20 July 2018

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

scientific article published on 5 July 2016

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

scientific article

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

scientific article

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

scientific article published on 05 August 2018

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

scientific article

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

scientific article published on 30 January 2013

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

scientific article published on 18 January 2011

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

scientific article published on 09 January 2013

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

scientific article published on January 2007

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

scientific article

Slight variations in the SC35 ESE sequence motif among human chromosomes: a computational approach.

scientific article published on 2 May 2014

Sperm DNA fragmentation and oxidation are independent of malondialdheyde ⬇️

scientific article

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

scientific article published on 25 June 2010

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

scientific article published on 11 May 2020

The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).

scientific article published on 9 April 2010

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

scientific article

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

scientific article

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

article

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

scientific article published on July 2012

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

scientific article

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

scientific article published on 20 May 2020

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

scientific article

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

scientific article

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.

scientific article published in July 2016

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

scientific article published on 22 July 2016

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