Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Authors: Ben Rekaya, Mariem, Naouali, Chokri, Messaoud, Olfa, Jones, Meriem, Bouyacoub, Yosra, Nagara, Majdi, Pippucci, Tommaso, Jmel, Haifa, Chargui, Mariem, Jerbi, Manel, Alibi, Mohamed, Dallali, Hamza, Bashamboo, Anu, McElreavey, Kenneth, Romeo, Giovanni, Barakat, Abdelhamid, Zghal, Mohamed, Yacoub-Youssef, Houda, Abdelhak, Sonia

Source: In Journal of Dermatological Science February 2018 89(2):172-180

On the origin of Iberomaurusians: new data based on ancient mitochondrial DNA and phylogenetic analysis of Afalou and Taforalt populations

Authors: Kefi, Rym, Hechmi, Meriem, Naouali, Chokri, Jmel, Haifa, Hsouna, Sana, Bouzaid, Eric, Abdelhak, Sonia, Beraud-Colomb, Eliane, Stevanovitch, Alain

Source: Mitochondrial DNA.Part A. 29(1):147-157

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107738275.0x000001&indx=1&recIds=ETOCvdc_100107738275.0x000001

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

Authors: 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, Mrad, Ridha, Boussen, Hamouda, Abdelhak, Sonia

Source: Journal of translational medicine. 16(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164863994.0x000001&indx=1&recIds=ETOCvdc_100164863994.0x000001

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Authors: Ben Haj Ali, Abir, Amouri, Ahlem, Sayeb, Marwa, Makni, Saloua, Hammami, Wajih, Naouali, Chokri, Dallali, Hamza, Romdhane, Lilia, Bashamboo, Anu, McElreavey, Kenneth, Abdelhak, Sonia, Messaoud, Olfa

Source: Molecular genetics & genomic medicine. 7(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085906512.0x000001&indx=1&recIds=ETOCvdc_100085906512.0x000001

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.

Authors: Chikhaoui, Asma, Jones, Meriem, Režen, Tadeja, Ben Ahmed, Melika, Naouali, Chokri, Komel, Radovan, Zghal, Mohamed, Boubaker, Samir, Abdelhak, Sonia, Yacoub-Youssef, Houda

Source: Scientific Reports; 8/16/2022, Vol. 12 Issue 1, p1-13, 13p

Subject Terms: XERODERMA pigmentosum, MELANOMA, OVERALL survival, SKIN cancer, INFLAMMATORY mediators, MONOCYTES

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Authors: Mkaouar, Rahma, Abdallah, Lamia Cherif Ben, Naouali, Chokri, Lahbib, Saida, Turki, Zinet, Elouej, Sahar, Bouyacoub, Yosra, Somai, Maali, Mcelreavey, Kenneth, Bashamboo, Anu, Abdelhak, Sonia, Messaoud, Olfa

Source: Frontiers in Genetics; 9/3/2021, Vol. 12, p1-13, 13p

Subject Terms: KALLMANN syndrome, HYPOGONADISM, GENETIC variation, HUMAN reproduction, HEREDITY

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Gut microbiota imbalances in Tunisian participants with type 1 and type 2 diabetes mellitus.

Authors: Fassatoui, Meriem, Lopez-Siles, Mireia, Díaz-Rizzolo, Diana A., Jmel, Haifa, Naouali, Chokri, Abdessalem, Ghaith, Chikhaoui, Asma, Nadal, Belén, Jamoussi, Henda, Abid, Abdelmajid, Gomis, Ramon, Abdelhak, Sonia, Martinez-Medina, Margarita, Kefi, Rym

Source: Bioscience Reports; 6/28/2019, Vol. 39 Issue 6, p1-7, 7p

Subject Terms: GUT microbiome, TYPE 2 diabetes, IMMUNE system, POLYMERASE chain reaction, MULTIVARIATE analysis

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A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy.

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

Source: BioMed Research International; 2014, Vol. 2014, p1-8, 8p