Ben-Rekaya相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations

着色性干皮病罕见内脏恶性肿瘤：两例突尼斯病例报告及驱动基因突变分析

期刊:Cancer Pathogenesis and Therapy

影响因子:2.8

doi:10.1016/j.cpt.2026.01.003

Rammeh, Soumaya; Ben Taher, Yasmine; Ben Rekaya, Mariem; Ben Rejeb, Sarra; Lahmar, Ahlem; Jones, Meriem; Zeglaoui, Faten; Belguith, Neila

发表日期：2026

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Clonal eosinophilia with exclusive pulmonary involvement driven by PDGFRA rearrangement treated with imatinib: A case report

由PDGFRA基因重排驱动的、仅累及肺部的克隆性嗜酸性粒细胞增多症，经伊马替尼治疗：病例报告

期刊:Leukemia Research Reports

影响因子:0.9

doi:10.1016/j.lrr.2025.100502

Mlayah, Zaineb; Ben-Rekaya, Inés; Bizid, Inaam; Slama, Nader; Boukhris, Sara; Laatiri, Mohamed-Adnene

细胞生物学

发表日期：2025

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HPV testing in cervical cancer formalin-fixed paraffin embedded tissues: Reliability of the Xpert HPV test and high-risk HPV genotypes distribution in Tunisia

宫颈癌福尔马林固定石蜡包埋组织中HPV检测：Xpert HPV检测的可靠性及突尼斯高危HPV基因型分布

期刊:PLoS One

doi:10.1371/journal.pone.0333600

Ben Taher, Yasmine; Ben Rekaya, Mariem; Romdhane, Emna; Miladi, Baligh; Bel Hadj Kacem, Linda; Med H'mayada, Ahmed; Ben Mansour, Nadia; Sassi, Farah; Chelbi, Emna; Tangour, Monia; Blel, Ahlem; Rammeh, Soumaya

发表日期：2025

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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

由纯合MLH1错义变异（c.1918C>A，p.(Pro640Thr)）引起的具有非典型特征的先天性错配修复缺陷综合征：病例报告

期刊:Frontiers in Oncology

影响因子:3.3

doi:10.3389/fonc.2023.1195814

Akrout, Firas; Achour, Ahlem; Tops, Carli M J; Gallon, Richard; Meddeb, Rym; Achoura, Sameh; Ben Rekaya, Mariem; Hamdeni, Emna; Rammeh, Soumaya; Chkili, Ridha; Mansouri, Nada; Belguith, Neila; Mrad, Ridha

发表日期：2023

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PIK3CA mutations in breast cancer: A Tunisian series

PIK3CA基因突变与乳腺癌：突尼斯系列病例

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0285413

Ben Rekaya, Mariem; Sassi, Farah; Saied, Essya; Bel Haj Kacem, Linda; Mansouri, Nada; Zarrouk, Sinda; Azouz, Saifeddine; Rammeh, Soumaya

发表日期：2023

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First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation

利比亚首次对着色性干皮病进行基因表征：XP-C创始突变频率高

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.2158

Khalat, Najlaa; Messaoud, Olfa; Ben Rekaya, Mariem; Chargui, Mariem; Zghal, Mohamed; Zendah, Bashir; Saqer, Najat; Mokni, Mourad; Abdelhak, Sonia; Mohamed, Othman A

发表日期：2023

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Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

在两名患有轻度着色性干皮病表型的突尼斯兄弟姐妹中鉴定出ERCC5 c.2333T>C (L778P)变异

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2019.00111

Chikhaoui, Asma; Elouej, Sahar; Nabouli, Imen; Jones, Meriem; Lagarde, Arnaud; Ben Rekaya, Meriem; Messaoud, Olfa; Hamdi, Yosr; Zghal, Mohamed; Delague, Valerie; Levy, Nicolas; De Sandre-Giovannoli, Annachiara; Abdelhak, Sonia; Yacoub-Youssef, Houda

发表日期：2019

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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

家族特异性乳腺癌遗传易感性：来自突尼斯乳腺癌全外显子组测序病例的结果

期刊:Journal of Translational Medicine

影响因子:7.5

doi:10.1186/s12967-018-1504-9

Hamdi, Yosr; Boujemaa, Maroua; Ben Rekaya, Mariem; Ben Hamda, Cherif; Mighri, Najah; El Benna, Houda; Mejri, Nesrine; Labidi, Soumaya; Daoud, Nouha; Naouali, Chokri; Messaoud, Olfa; Chargui, Mariem; Ghedira, Kais; Boubaker, Mohamed Samir; Mrad, Ridha; Boussen, Hamouda; Abdelhak, Sonia

发表日期：2018

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A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

一项针对突尼斯人群的全基因组SNP基因分型研究：重点报告部分常见乳腺癌风险位点

期刊:BMC Cancer

影响因子:3.4

doi:10.1186/s12885-018-5133-8

Hamdi, Yosr; Ben Rekaya, Mariem; Jingxuan, Shan; Nagara, Majdi; Messaoud, Olfa; Benammar Elgaaied, Amel; Mrad, Ridha; Chouchane, Lotfi; Boubaker, Mohamed Samir; Abdelhak, Sonia; Boussen, Hamouda; Romdhane, Lilia

发表日期：2018

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A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy

突尼斯着色性干皮病变异型中的一种创始大片段缺失突变：对分子诊断和治疗的意义

期刊:Biomed Research International

影响因子:2.3

doi:10.1155/2014/256245

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Naouali, Chokri; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

发表日期：2014

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