Faiza Fakhfakh - Publications, H-index & Citations

Faiza Fakhfakh

Laboratory of Molecular and Functional Genetics

20H指数

198论文数

2.5K被引数

收录论文 27

发表时间

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex 突尼斯人群中CTNNB1综合征的首次描述：β-catenin/E-cadherin复合物的临床研究、分子对接及分子动力学模拟

Molecular Biology Reports

IF2.8

2025-10-25

PREAI

Marwa Kharrat; Wafa bouchaala; Magdy M. D. Mohammed; Abir ben issa; Faiza Fakhfakh; Fatma kamoun; Chahnez Triki

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis 结合临床与基因组学分析，在两名特发性胆汁淤积的同卵双胞胎中发现新生儿期起病的Wilson病。

Clinica Chimica Acta

IF2.9

2025-08-14

PREAI

Boudour Khabou; Manel Guirat; Manel Hsairi; Lamia Gargouri; Slim Charfi; Mohamed Hadj Kacem; Tahia Boudawara; Hassen Kammoun; Faiza Fakhfakh; Hassen Hadj Kacem

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level 一份与PFIC4相关的错义TJP2变异的报告：聚焦于蛋白质水平的结构影响及显著表型变异

JOURNAL OF HUMAN GENETICS

IF2.5

2025-04-18

PREAI

Khabou, Boudour; Othman, Houcemeddine; Guirat, Manel; Chabchoub, Imen; Kmiha, Sana; Mahjoub, Bahri; Abdelhadi, Rania; Ben Mahmoud, Afif; Kallel, Rim; Sellami Boudawara, Tahya; Kammoun, Thouraya; Fakhfakh, Faiza; Kacem, Hassen Hadj; Kammoun, Hassen

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number

ANNALS OF HEMATOLOGY

IF2.4

2025-02-17

OAAI

Ammar, Marwa; Kmiha, Sana; Maalej, Marwa; Felhi, Rahma; Kharrat, Marwa; Alila-Fersi, Olfa; Chouchen, Jihen; Maaloul, Ines; Mkaouar-Rebai, Emna; Kammoun, Thouraya; Tlili, Abdelaziz; Fakhfakh, Faiza

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome 维生素B1缺乏导致Leigh综合征近亲家庭SLC19A3突变引起的高氧化应激和mtDNA耗竭

METABOLIC BRAIN DISEASE

IF3.5

2023-08-29

OAAI

Felhi, Rahma; Sfaihi, Lamia; Charif, Majida; Frikha, Fakher; Aoiadni, Nissaf; Kamoun, Thouraya; Lenaers, Guy; Fakhfakh, Faiza

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

DERMATOLOGIC THERAPY

IF3.4

2022-05-30

OAAI

Ennouri, Mariem; Bahloul, Emna; Sellami, Khadija; Marrakchi, Slaheddine; Fakhfakh, Faiza; Turki, Hamida; Bougacha-Elleuch, Noura

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-07-17

OAAI

Ben Jdila, Marwa; Mignon-Ravix, Cecile; Ben Ncir, Sihem; Kammoun, Fatma; Fakhfakh, Faiza; Villard, Laurent; Triki, Chahnez

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome

CLINICA CHIMICA ACTA

IF2.9

2021-07-01

PREAI

Khabou, Boudour; Hsairi, Manel; Gargouri, Lamia; Miled, Nabil; Barbu, Veronique; Fakhfakh, Faiza

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression

CLINICA CHIMICA ACTA

IF2.9

2020-09-01

PREAI

Ben Jdila, Marwa; Triki, Chahnez Charfi; Ghorbel, Rania; Bouchalla, Wafa; Ben Ncir, Sihem; Kamoun, Fatma; Fakhfakh, Faiza

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma

CLINICA CHIMICA ACTA

IF2.9

2019-08-01

PREAI

Khabou, Boudour; Trigui, Ayman; Boudawara, Tahya Sellami; Keskes, Leila; Kamoun, Hassen; Barbu, Veronique; Fakhfakh, Faiza

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-05-22

OAAI

Louhichi, Nacim; Bahloul, Emna; Marrakchi, Slaheddine; Othman, Houda Ben; Triki, Chahnez; Aloulou, Kawthar; Trabelsi, Lobna; Mahfouth, Nadia; Ayadi-Mnif, Zeineb; Keskes, Leila; Fakhfakh, Faiza; Turki, Hamida

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

CLINICA CHIMICA ACTA

IF2.9

2018-11-01

PREAI

Khabou, Boudour; Mahjoub, Bahri; Barbu, Veronique; Balhoudi, Nassima; Wardani, Amina; Sfar, Mohamed Taher; Fakhfakh, Faiza

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

CLINICA CHIMICA ACTA

IF2.9

2017-10-01

PREAI

Ben Jdila, Marwa; Ben Issa, Abir; Khabou, Boudour; Ben Rhouma, Bochra; Kamoun, Fatma; Ammar-Keskes, Leila; Triki, Chahnez; Fakhfakh, Faiza

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

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

IF2.8

2017-08-01

PREAI

Khabou, Boudour; Durand-Schneider, Anne-Marie; Delaunay, Jean-Louis; Ait-Slimane, Tounsia; Barbu, Veronique; Fakhfakh, Faiza; Housset, Chantal; Maurice, Michele

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

PHARMACEUTICAL BIOLOGY

IF4.8

2016-03-12

OAAI

Elwej, Awatef; Ben Salah, Ghada; Kallel, Choumous; Fakhfakh, Faiza; Zeghal, Najiba; Ben Amara, Ibtissem

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

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2014-02-19

OAAI

Baklouti-Gargouri, Siwar; Ghorbel, Myriam; Ben Mahmoud, Afif; Mkaouar-Rebai, Emna; Cherif, Meriam; Chakroun, Nozha; Sellami, Afifa; Fakhfakh, Faiza; Ammar-Keskes, Leila

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

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

IF8

2013-10-01

PREAI

Ben Salah, G.; Salem, I. Hadj; Masmoudi, A.; Ben Rhouma, B.; Turki, H.; Fakhfakh, F.; Ayadi, H.; Kamoun, H.

A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity

JOURNAL OF SEXUAL MEDICINE

IF3.3

2013-10-01

PREAI

Ben Rhouma, Bochra; Belguith, Neila; Mnif, Mouna Feki; Kamoun, Thouraya; Charfi, Nadia; Kamoun, Mahdi; Abdelhedi, Fatma; Hachicha, Mongia; Kamoun, Hassen; Abid, Mohamed; Fakhfakh, Faiza

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

HUMAN AND ECOLOGICAL RISK ASSESSMENT

IF2.7

2012-07-09

PREAI

Ben Salah, Ghada; Kamoun, Hassen; Rebai, Ahmed; Hajji, Rafika; Masmoudi, Mohamed-Elaarbi; Ayadi, Hamadi; Fakhfakh, Faiza

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

BIOLOGICAL TRACE ELEMENT RESEARCH

IF3.6

2012-02-15

PREAI

Boujbiha, Mohamed Ali; Ben Salah, Ghada; Ben Feleh, Abdelraouf; Saoudi, Mongi; Kamoun, Hassen; Bousslema, Ali; Ommezzine, Asma; Said, Khaled; Fakhfakh, Faiza; El Feki, Abdelfattah

研究方向