Abdelhak, Sonia: search on Z-Library

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1

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

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

Journal:

Mitochondrial DNA Part A

Year:

2016

Language:

english

File:

PDF, 1.25 MB

english, 2016

2

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi, Sonia Abdelhak

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 417 KB

english, 2012

3

E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population

Abdelhamid, Isselmou, Lasram, Khaled, Meiloud, Ghlana, Ben Halim, Nizar, Kefi, Rym, Samb, Abdoulaye, Abdelhak, Sonia, Houmeida, Ahmed

Journal:

Primary Care Diabetes

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

4

Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations

Ben Halim, Nizar, Hsouna, Sana, Lasram, Khaled, Chargui, Mariem, Khemira, Laaroussi, Saidane, Rachid, Abdelhak, Sonia, Kefi, Rym

Journal:

Annals of Human Biology

Year:

2018

Language:

english

File:

PDF, 2.07 MB

english, 2018

5

Consanguinity and Inbreeding in Health and Disease in North African Populations

Romdhane, Lilia, Mezzi, Nessrine, Hamdi, Yosr, El-Kamah, Ghada, Barakat, Abdelhamid, Abdelhak, Sonia

Journal:

Annual Review of Genomics and Human Genetics

Year:

2019

Language:

english

File:

PDF, 806 KB

english, 2019

6

Genetic diseases in the Tunisian population

Lilia Romdhane, Sonia Abdelhak, for the Research Unit on Molecular Investigation of Genetic Orphan Diseases, , Collaborators

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 367 KB

english, 2011

7

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Cherine Charfeddine, Mourad Mokni, Selma Kassar, Hela Zribi, Chiraz Bouchlaka, Samir Boubaker, Ahmed Rebai, Amel Ben Osman, Sonia Abdelhak

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 201 KB

english, 2006

8

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Mili, Amira, Charfeddine, Ilhem Ben, Mama, Ons, Abdelhak, Sonia, Adala, Labiba, Amara, Abdelbasset, Pagliarani, Serena, Lucchiarri, Sabrina, Ayadi, Abdelkarim, Tebib, Neji, Harbi, Abdelaziz, Bouguila,

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

9

Association study of HNF1A polymorphisms with metabolic syndrome in the Moroccan population

Morjane, Imane, Charoute, Hicham, el Yaagoubi, Fouzia Lakbakbi, Hechmi, Meryem, Rachid, Saile, Kefi, Rym, Abdelhak, Sonia, Barakat, Abdelhamid

Journal:

Diabetes & Metabolic Syndrome: Clinical Research & Reviews

Year:

2017

Language:

english

File:

PDF, 426 KB

english, 2017

10

Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients

Naouali, Chokri, Jones, Meriem, Nabouli, Imen, Jerbi, Manel, Tounsi, Haifa, Ben Rekaya, Mariem, Ben Ahmed, Melika, Bouhaouala, Balkiss, Messaoud, Olfa, Khaled, Aida, Zghal, Mohamed, Abdelhak, Sonia, B

Journal:

International Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 112 KB

english, 2016

11

Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

Ghedira, Nehla, Kraoua, Lilia, Lagarde, Arnaud, Abdelaziz, Rim Ben, Olschwang, Sylviane, Desvignes, Jean Pierre, Abdelhak, Sonia, Monastiri, Kamel, Levy, Nicolas, SandreGiovannoli, Annachiara De, Mrad

Journal:

Biology and Medicine

Year:

2017

Language:

english

File:

PDF, 1009 KB

english, 2017

12

BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report

Mehemmai, Chiraz, Cherbal, Farid, Hamdi, Yosr, Guedioura, Abdelmoumene, Benbrahim, Wassila, Bakour, Rabah, Abdelhak, Sonia

Journal:

Pathology & Oncology Research

Year:

2019

File:

PDF, 1.17 MB

2019

13

Correction to: BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report

Mehemmai, Chiraz, Cherbal, Farid, Hamdi, Yosr, Guedioura, Abdelmoumene, Benbrahim, Wassila, Bakour, Rabah, Abdelhak, Sonia

Journal:

Pathology & Oncology Research

Year:

2019

Language:

english

File:

PDF, 289 KB

english, 2019

14

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

Lahbib, Saida, Trabelsi, Mediha, Dallali, Hamza, Sakka, Rania, Bourourou, Rym, Kefi, Rym, Mrad, Ridha, Abdelhak, Sonia, Gaddour, Naoufel

Journal:

Molecular Biology Reports

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

15

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 461 KB

english, 2019

16

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

Vasiliki Kalatzis, Sonia Abdelhak, Sylvie Compain, Christophe Vincent, Christine Petit

Journal:

Year:

1996

Language:

english

File:

PDF, 92 KB

english, 1996

17

Application of Multi-SOM clustering approach to macrophage gene expression analysis

Amel Ghouila, Sadok Ben Yahia, Dhafer Malouche, Haifa Jmel, Dhafer Laouini, Fatma Z. Guerfali, Sonia Abdelhak

Journal:

Infection, Genetics and Evolution

Year:

2009

Language:

english

File:

PDF, 1.29 MB

english, 2009

18

Fanconi anemia in Tunisia: high prevalence of group

Chiraz Bouchlaka, Sonia Abdelhak, Ahlem Amouri, Hela Ben Abid, Sondes Hadiji, Mounir Frikha, Tarek Ben Othman, Fethi Amri, Hammadi Ayadi, Mongia Hachicha, Ahmed Rebaï, Ali Saad, Koussay Dellagi

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 357 KB

english, 2003

19

P0300 COWDEN SYNDROME: REPORT OF TUNISIAN CASE

Hammami Sonia, Saidane Zohra, Sakouhi Mohamed, Abdelhak Sonia, Mahjoub Sylvia

Journal:

European Journal of Internal Medicine

Year:

2009

Language:

english

File:

PDF, 371 KB

english, 2009

20

Cytogenetic Assessment of Fanconi Anemia in Children With Aplastic Anemia in Tunisia

Talmoudi, Faten, Kammoun, Lobna, Benhalim, Nizar, Torjemane, Lamia, Ouederni, Monia, Aissaoui, Lamia, Lakhal, Amel, Mellouli, Fethi, Othmen, Tarek B., Bejaoui, Mohamed, Abdelhak, Sonia, Meddeb, Mounir

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2013

Language:

english

File:

PDF, 115 KB

english, 2013

21

Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?

Ben Chehida, Amel, Bensmaïl, Takoua, Ben Rehouma, Faten, Ben Abdelaziz, Rim, Azzouz, Hatem, Boudabbous, Hela, Slim Abdelmoula, Mohamed, Abdelhak, Sonia, Kaabachi, Naziha, Ben Turkia, Hadhami, Tebib, N

Journal:

Néphrologie & Thérapeutique

Year:

2015

File:

PDF, 373 KB

2015

22

Reproductive Risk Factors of Inflammatory Breast Cancer according to Luminal, HER2-Overexpressing, and Triple-Negative Subtypes: A Case Comparison Study

Mejri, Nesrine, ElÂ Benna, Houda, Rachdi, Haifa, Labidi, Soumaya, Benna, Mahdi, Daoud, Nouha, Hamdi, Yosr, Abdelhak, Sonia, Boussen, Hamouda

Journal:

Oncology Research and Treatment

Year:

2020

File:

PDF, 116 KB

2020

23

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Jaouadi, Hager, Kraoua, Lilia, Chaker, Lilia, Atkinson, Alexandre, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mrad, Ridha, Abdelhak, Sonia, Zaffran, Stéphane

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 752 KB

english, 2018

24

Mucosal Human Papillomavirus Detection and TP53 Immunohistochemical expression in Non‐Melanoma Skin Cancer in Tunisian Patients

Ben Ayed, Ines, Tounsi, Haifa, Jaballah, Amira, Ardhaoui, Monia, Maaloul, Afifa, Lassili, Thalja, Mezghani, Najla, Abdelhak, Sonia, Boubaker, Samir

Journal:

Journal of Cutaneous Pathology

Year:

2019

File:

PDF, 1.32 MB

2019

25

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

Benmously-Mlika, Rym, Zaouak, Anissa, Mrad, Ridha, Laaroussi, Nadia, Abdelhak, Sonia, Hovnanian, Alain, Mokhtar, Insaf

Journal:

International Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 235 KB

english, 2014

26

Dysregulated PDGFR alphaÂ expression andÂ novel somatic mutations in colorectal cancer: association to RAS wild type status and tumorÂ size

Ben Jemii, Nadia, Tounsi-Kettiti, Haifa, Yaiche, Hamza, Mezghanni, Najla, Jaballah Gabteni, Amira, Fehri, Emna, Ben Fayala, Chayma, Abdelhak, Sonia, Boubaker, Samir

Journal:

Journal of Translational Medicine

Year:

2020

File:

PDF, 3.05 MB

2020

27

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

Chouchene, Ibtissem, Derouiche, Kaouthar, Chaabouni, Afif, Cherif, Lamia, Amouri, Ahlem, Largueche, Leila, Abdelhak, Sonia, Matri, Leila El

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 1.65 MB

english, 2010

28

Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department

Amouri, Ahlem, Hammami, Wajih, Kilani, Olfa, Bouzouita, Abderrezzak, Ayed, Wiem, Ben Meftah, Mounir, Khrouf, Mohamed, Fadhlaoui, Anis, Abdelhak, Sonia, Zhioua, Fethi, Jaafoura, Mohamed Habib

Journal:

Comptes Rendus Biologies

Year:

2014

Language:

english

File:

PDF, 319 KB

english, 2014

29

The first Mal de Meleda case in Libya: identification of a SLURP1 mutation

Bchetnia, Mbarka, Bozgia, Mariam, Laroussi, Nadia, Ben Brick, Ahlem Sabrine, Charfeddine, Cherine, Ben Halim, Nizar, Mokni, Mourad, Boubaker, Mohamed Samir, Abdelhak, Sonia

Journal:

International Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 223 KB

english, 2014

30

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in theEXT1gene

Sana Sfar, Abderrazak Abid, Wijden Mahfoudh, Houyem Ouragini, Farah Ouechtati, Sonia Abdelhak, Lotfi Chouchane

Journal:

Molecular Biology Reports

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

31

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

Bouchoucha, Sami, Chikhaoui, Asma, Najjar, Dorra, Dallali, Hamza, Khammessi, Maleke, Abdelhak, Sonia, Nessibe, Nabil, Shboul, Mohammad, Kircher, Susanne G., Al Kaissi, Ali, Yacoub-Youssef, Houda

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 1008 KB

2020

32

High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus

El Jeni, Rim, Ghedira, Kais, El Bour, Monia, Abdelhak, Sonia, Benkahla, Alia, Bouhaouala-Zahar, Balkiss

Journal:

BMC Microbiology

Year:

2020

File:

PDF, 4.49 MB

2020

33

Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations

Kefi, Rym, Hsouna, Sana, Ben Halim, Nizar, Lasram, Khaled, Romdhane, Lilia, Messai, Habib, Abdelhak, Sonia

Journal:

Mitochondrial DNA

Year:

2015

Language:

english

File:

PDF, 688 KB

english, 2015

34

Type 2 diabetes in Mauritania: Prevalence of the undiagnosed diabetes, influence of family history and maternal effect

Meiloud, Ghlana, Arfa, Imen, Kefi, Rym, Abdelhamid, Isselmou, Veten, Fatimetou, Lasram, Khaled, Ben Halim, Nizar, Sidi Mhamed, Abdallahi, Samb, Abdoulaye, Abdelhak, Sonia, Houmeida, Ahmed Ould

Journal:

Primary Care Diabetes

Year:

2013

Language:

english

File:

PDF, 277 KB

english, 2013

35

Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population

Hsouna, Sana, Ben Halim, Nizar, Lasram, Khaled, Arfa, Imen, Jamoussi, Henda, Bahri, Sonia, Ammar, Slim Ben, Miladi, Najoua, Abid, Abdelmajid, Abdelhak, Sonia, Kefi, Rym

Journal:

Mitochondrial DNA

Year:

2015

Language:

english

File:

PDF, 150 KB

english, 2015

36

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

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, Romd

Journal:

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

37

Genetic heterogeneity of megaloblastic anaemia type

Chiraz Bouchlaka, Chokri Maktouf, Bahri Mahjoub, Abdelkarim Ayadi, M. Tahar Sfar, Mahbouba Sioud, Neji Gueddich, Zouheir Belhadjali, Ahmed Rebaï, Sonia Abdelhak, Koussay Dellagi

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 370 KB

english, 2007

38

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

Houyem Ouragini, Faïka Cherif, Wafa Daoud, Selma Kassar, Chérine Charfeddine, Ahmed Rebaï, Samir Boubaker, Amel Ben Osman-Dhahri, Sonia Abdelhak

Journal:

Archives of Dermatological Research

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

39

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Ben Ali, Nadia, Boudabous, Hela, Ben Abdelaziz, Ines, Ben Ameur, Zeineb, Sassi, Yosra, Kaabachi, Neziha, Abdelhak, Sonia, Abdelmoula, Mohamed

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 351 KB

english, 2018

40

The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach

Romdhane, Lilia, Bouhamed, Heni, Ghedira, Kais, Hamda, Cherif Ben, Louhichi, Amel, Jmel, Haifa, Romdhane, Safa, Charfeddine, ChÃ©rine, Mokni, Mourad, Abdelhak, Sonia, Rebai, Ahmed

Journal:

Year:

2020

File:

PDF, 1.36 MB

2020

41

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

Amr, Khalda, Messaoud, Olfa, El Darouti, Mohamad, Abdelhak, Sonia, El-Kamah, Ghada

Journal:

Year:

2014

Language:

english

File:

PDF, 891 KB

english, 2014

42

Modèles murins de surdités génétiques

Abdelhak, Sonia

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1995

Language:

french

File:

PDF, 804 KB

french, 1995

43

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Daghsni, Marwa, Lahbib, Saida, Fradj, Mohamed, Sayeb, Marwa, Kelmemi, Wided, Kraoua, Lilia, Kchaou, Mariem, Maazoul, Faouzi, Echebbi, Slim, Ben Ali, Nadia, Abdelhak, Sonia, M'rad, Ridha

Journal:

Cytogenetic and Genome Research

Year:

2018

Language:

english

File:

PDF, 243 KB

english, 2018

44

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

Landoulsi, Zied, Benromdhan, Sawssan, Ben Djebara, Mouna, Damak, Mariem, Dallali, Hamza, Kefi, Rym, Abdelhak, Sonia, Gargouri-Berrechid, Amina, Mhiri, Chokri, Gouider, Riadh

Journal:

BMC Medical Genetics

Year:

2017

Language:

english

File:

PDF, 392 KB

english, 2017

45

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients

Olfa Messaoud, Mariem Ben Rekaya, Wafa Cherif, Faten Talmoudi, Hammouda Boussen, Inçaf Mokhtar, Samir Boubaker, Ahlem Amouri, Sonia Abdelhak, Mohamed Zghal

Journal:

International Journal of Dermatology

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

46

Immunohistological study of involucrin expression in Darier's disease skin

Selma Kassar, Cherine Charfeddine, Hela Zribi, Haifa Tounsi-Kettiti, Mbarka. Bchetnia, Emna Jerbi, Doris Cassio, Mourad Mokni, Sonia Abdelhak, Amel Ben Osman, Samir Boubaker

Journal:

Journal of Cutaneous Pathology

Year:

2008

Language:

english

File:

PDF, 398 KB

english, 2008

47

Screening of three Mediterranean phenylketonuria mutations in Tunisian families

KHEMIR, SAMEH, SIALA, HAJER, TAIEB, SAMEH HADJ, CHERIF, WAFA, AZZOUZ, HATEM, KÉFI, RYM, ABDELHAK, SONIA, KHOUJA, NAZIHA, TEBIB, NEJI, MASSAOUD, TAIEB, DRIDI, MARIE FRANÇOISE BEN, KAABACHI, NAZIHA

Journal:

Journal of Genetics

Year:

2012

Language:

english

File:

PDF, 541 KB

english, 2012

48

A novelPOLHgene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation

REKAYA, MARIEM BEN, MESSAOUD, OLFA, MEBAZAA, AMEL, RIAHI, OLFA, AZAIEZ, HELA, KEFI, RIM, ZGHAL, MOHAMED, BOUBAKER, SAMIR, AMOURI, AHLEM, OSMAN-DHAHRI, AMEL BEN, ABDELHAK, SONIA, MOKNI, MOURAD

Journal:

Journal of Genetics

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

49

Characterization of an mGluR2/3 Negative Allosteric Modulator in Rodent Models of Depression

Campo, Brice, Kalinichev, Mikhail, Lambeng, Nathalie, Yacoubi, M. El, Royer-Urios, Isabelle, Schneider, Manfred, Legrand, Coline, Parron, Delphine, Girard, Francoise, Bessif, Abdelhak, Poli, Sonia, Va

Journal:

Journal of Neurogenetics

Year:

2011

Language:

english

File:

PDF, 386 KB

english, 2011

50

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

Nagara, Majdi, Tiar, Afaf, Ben Halim, Nizar, Ben Rhouma, Faten, Messaoud, Olfa, Bouyacoub, Yosra, Kefi, Rym, Hassayoun, Saida, Zouari, Noura, Ben Ammar, Mohamed Slim, Abdelhak, Sonia, Chemli, Jalel

Journal:

Year:

2013

Language:

english

File:

PDF, 254 KB

english, 2013

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