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Neurological Characteristics of Allgrove Syndrome: A Case Series.
Published in:
Annals of Child Neurology, 2024, v. 32, n. 2, p. 130, doi. 10.26815/acn.2024.00458
By:
- Salah, Dhoha Ben;
- Elleuch, Mouna;
- Trimeche, Oumeyma;
- Zargni, Asma;
- Kallabi, Fakhri;
- Sakka, Salma;
- Mnif, Fatma;
- Rekik, Nabila;
- Charfi, Nadia;
- Kamoun, Hassen;
- Feki, Mouna Mnif;
- Kacem, Faten Hadj;
- Abid, Mohamed
Publication type:
Article
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1811
By:
- Ben Ayed, Ikhlas;
- Bouzid, Amal;
- Kammoun, Fatma;
- souissi, Amal;
- Jallouli, Olfa;
- Mallouli, Salma;
- Guidara, Souhir;
- Loukil, Salma;
- Aloulou, Hajer;
- Jbeli, Fida;
- Aouichaoui, Sahar;
- Abid, Dorra;
- Abdelhedi, Fatma;
- Triki, Chahnez;
- Kamoun, Hassen;
- Masmoudi, Saber
Publication type:
Article
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1344018
By:
- Ammous-Boukhris, Nihel;
- Abdelmaksoud-Dammak, Rania;
- Ayed-Guerfali, Dorra Ben;
- Guidara, Souhir;
- Jallouli, Olfa;
- Kamoun, Hassen;
- Triki, Chahnez Charfi;
- Mokdad-Gargouri, Raja
Publication type:
Article
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1081, doi. 10.1002/ajmg.a.62065
By:
- Ayed, Ikhlas Ben;
- Ouarda, Wael;
- Frikha, Fakher;
- Kammoun, Fatma;
- Souissi, Amal;
- Said, Mariem Ben;
- Bouzid, Amal;
- Elloumi, Ines;
- Hamdani, Tarak M.;
- Gharbi, Nourhene;
- Baklouti, Nesrine;
- Guirat, Manel;
- Mejdoub, Fatma;
- Kharrat, Najla;
- Boujelbene, Imene;
- Abdelhedi, Fatma;
- Belguith, Neila;
- Keskes, Leila;
- Gibriel, Abdullah Ahmed;
- Kamoun, Hassen
Publication type:
Article
Assessment of molecular response to tyrosine kinase inhibitors in Tunisian Patients with Chronic Myeloid Leukemia.
Published in:
Journal of Oncology Pharmacy Practice, 2022, v. 28, n. 8, p. 1826, doi. 10.1177/10781552211048232
By:
- Frikha, Rim;
- Kassar, Olfa;
- Elloumi, Moez;
- Kamoun, Hassen
Publication type:
Article
MTHFR 677T-1298C haplotype in acute lymphoblastic leukemia: Impact on methotrexate therapy.
Published in:
Journal of Oncology Pharmacy Practice, 2022, v. 28, n. 5, p. 1031, doi. 10.1177/10781552211017193
By:
- Frikha, Rim;
- Elloumi, Moez;
- Rebai, Tarek;
- Kamoun, Hassen
Publication type:
Article
Co-existence of BCR-ABL and JAK2V617F mutation in resistant chronic myeloid leukemia in the imatinib era: Is there a correlation?
Published in:
Journal of Oncology Pharmacy Practice, 2021, v. 27, n. 7, p. 1784, doi. 10.1177/1078155221991646
By:
- Frikha, Rim;
- Turki, Fatma;
- Kassar, Olfa;
- Elloumi, Moez;
- Kamoun, Hassen
Publication type:
Article
Involvement of C677T MTHFR variant but not A1298C in methotrexate-induced toxicity in acute lymphoblastic leukemia.
Published in:
Journal of Oncology Pharmacy Practice, 2021, v. 27, n. 6, p. 1382, doi. 10.1177/1078155220951898
By:
- Frikha, Rim;
- Jemaa, Maha Ben;
- Frikha, Fakher;
- Turki, Ines;
- Elloumi, Moez;
- Keskes, Leila;
- Kamoun, Hassen;
- Rebai, Tarek
Publication type:
Article
Hematotoxicity and Genotoxicity of Mercuric Chloride Following Subchronic Exposure Through Drinking Water in Male Rats.
Published in:
Biological Trace Element Research, 2012, v. 148, n. 1, p. 76, doi. 10.1007/s12011-012-9342-8
By:
- Boujbiha, Mohamed;
- Ben Salah, Ghada;
- Ben Feleh, Abdelraouf;
- Saoudi, Mongi;
- Kamoun, Hassen;
- Bousslema, Ali;
- Ommezzine, Asma;
- Said, Khaled;
- Fakhfakh, Faiza;
- Feki, Abdelfattah
Publication type:
Article
Exposure to lambda-cyhalothrin, a synthetic pyrethroid, increases reactive oxygen species production and induces genotoxicity in rat peripheral blood.
Published in:
Toxicology & Industrial Health, 2015, v. 31, n. 5, p. 433, doi. 10.1177/0748233713475516
By:
- Fetoui, Hamadi;
- Feki, Ameni;
- Salah, Ghada Ben;
- Kamoun, Hassen;
- Fakhfakh, Feiza;
- Gdoura, Radhouane
Publication type:
Article
Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
Published in:
Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680
By:
- Kallabi, Fakhri;
- Hadj Salem, Ikhlass;
- Ben Salah, Ghada;
- Ben Turkia, Hadhami;
- Ben Chehida, amel;
- Tebib, Neji;
- Fakhfakh, Faiza;
- Kamoun, Hassen
Publication type:
Article
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Published in:
Molecular Biology Reports, 2014, v. 41, n. 11, p. 7373, doi. 10.1007/s11033-014-3624-5
By:
- Ben Salah, Ghada;
- Hadj Salem, Ikhlas;
- Masmoudi, Abderrahmen;
- Kallabi, Fakhri;
- Turki, Hamida;
- Fakhfakh, Faiza;
- Ayadi, Hamadi;
- Kamoun, Hassen
Publication type:
Article
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.
Published in:
Molecular Biology Reports, 2012, v. 39, n. 10, p. 9639, doi. 10.1007/s11033-012-1829-z
By:
- Ben Salah, Ghada;
- Fendri-Kriaa, Nourhene;
- Kamoun, Hassen;
- Kallabi, Fakhri;
- Mkaouar-Rebai, Emna;
- Fourati, Amine;
- Ayadi, Hammadi;
- Fakhfakh, Faiza
Publication type:
Article
Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.
Published in:
Clinical Rheumatology, 2022, v. 41, n. 5, p. 1359, doi. 10.1007/s10067-022-06057-7
By:
- Dhaffouli, Fatma;
- Hachicha, Hend;
- Abida, Olfa;
- Gharbi, Nourhene;
- Elloumi, Nesrine;
- Kanoun, Houda;
- Belguith, Neila;
- Marzouk, Sameh;
- Fakhfakh, Raouia;
- Sawsen, Feki;
- Mnif, Hela;
- Kamoun, Hassen;
- Bahloul, Zouhir;
- Masmoudi, Hatem
Publication type:
Article
CML-405: Treatment-Free Remission in Chronic Myeloid Leukemia: A Tunisian Experience.
Published in:
Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S335, doi. 10.1016/S2152-2650(21)01783-3
By:
- Frikha, Rim;
- Elloumi, Moez;
- Kamoun, Hassen
Publication type:
Article
Poster: CML-405: Treatment-Free Remission in Chronic Myeloid Leukemia: A Tunisian Experience.
Published in:
Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S225, doi. 10.1016/S2152-2650(21)01420-8
By:
- Frikha, Rim;
- Elloumi, Moez;
- Kamoun, Hassen
Publication type:
Article
Assessment of Early Molecular Response in Tunisian Chronic Myeloid Leukemia.
Published in:
Clinical Lymphoma, Myeloma & Leukemia, 2018, v. 18, p. S230, doi. 10.1016/j.clml.2018.07.107
By:
- Frikha, Rim;
- Elloumi, Moez;
- Kamoun, Hassen
Publication type:
Article
Clinical and laboratory findings in 8 patients with Bloom's syndrome.
Published in:
2012
By:
- Masmoudi, Abderrahmen;
- Marrakchi, Slaheddine;
- Kamoun, Hassen;
- Chaaben, Hend;
- Salah, Gada Ben;
- Salah, Raida Ben;
- Fakhfakh, Faiza;
- Zahaf, Abdelmajid;
- Turki, Hamida
Publication type:
Case Study
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Published in:
Annals of Human Genetics, 2022, v. 86, n. 4, p. 181, doi. 10.1111/ahg.12460
By:
- Yahia, Ashraf;
- Ayed, Ikhlas Ben;
- Hamed, Ahlam A.;
- Mohammed, Inaam N.;
- Elseed, Maha A.;
- Bakhiet, Aisha M.;
- Guillot‐Noel, Lena;
- Abozar, Fatima;
- Adil, Rawaa;
- Emad, Sara;
- Abubaker, Rayan;
- Musallam, Mhammed Alhassan;
- Eltazi, Isra Z. M.;
- Omer, Zulfa;
- Maaroof, Omer M.;
- Soussi, Amal;
- Bouzid, Amal;
- Kmiha, Sana;
- Kamoun, Hassen;
- Salih, Mustafa A.
Publication type:
Article
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Published in:
Hormone Research in Paediatrics, 2016, v. 86, n. 2, p. 90, doi. 10.1159/000446539
By:
- Kallabi, Fakhri;
- Ben Rhouma, Bochra;
- Baklouti, Siwar;
- Ghorbel, Rania;
- Felhi, Rahma;
- Keskes, Leila;
- Kamoun, Hassen
Publication type:
Article
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Published in:
Hormone Research in Paediatrics, 2016, v. 85, n. 1, p. 18, doi. 10.1159/000441653
By:
- Kallabi, Fakhri;
- Ben Rebeh, Imen;
- Felhi, Rahma;
- Sellami, Dorra;
- Masmoudi, Saber;
- Keskes, Leila;
- Kamoun, Hassen
Publication type:
Article
Histopathological, oxidative damage, biochemical, and genotoxicity alterations in hepatic rats exposed to deltamethrin: modulatory effects of garlic ( Allium sativum).
Published in:
Canadian Journal of Physiology & Pharmacology, 2016, v. 94, n. 6, p. 571, doi. 10.1139/cjpp-2015-0477
By:
- Ncir, Marwa;
- Ben Salah, Ghada;
- Kamoun, Hassen;
- Makni Ayadi, Fatma;
- Khabir, Abdelmajid;
- El Feki, Abdelfattah;
- Saoudi, Mongi
Publication type:
Article
Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.
Published in:
Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 69, doi. 10.1007/s10815-018-1342-y
By:
- Abdelhedi, Fatma;
- Chalas, Céline;
- Petit, Jean-Maurice;
- Abid, Nouha;
- Mokadem, Elyes;
- Hizem, Syrine;
- Kamoun, Hassen;
- Keskes, Leila;
- Dupont, Jean-Michel
Publication type:
Article
Chromosomal defects in infertile men with poor semen quality.
Published in:
Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 5, p. 451, doi. 10.1007/s10815-012-9737-7
By:
- Ghorbel, Myriam;
- Gargouri Baklouti, Siwar;
- Ben Abdallah, Fatma;
- Zribi, Nacira;
- Cherif, Mariem;
- Keskes, Rim;
- Chakroun, Nozha;
- Sellami, Afifa;
- Belguith, Neila;
- Kamoun, Hassen;
- Fakhfakh, Faiza;
- Ammar-Keskes, Leila
Publication type:
Article
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 515, doi. 10.1007/s10689-024-00386-z
By:
- Abdelmaksoud-Dammak, Rania;
- Ammous-Boukhris, Nihel;
- BenAyed-Guerfali, Dorra;
- Gdoura, Yassine;
- Boujelben, Imen;
- Guidara, Souhir;
- Charfi, Slim;
- Boudabbous, Wiem;
- Ammar, Saloua;
- Rhaiem, Wiem;
- Boudawara, Mohamed Zaher;
- Kamoun, Hassen;
- Sallemi-Boudawara, Tahya;
- Mhiri, Riadh;
- Mokdad-Gargouri, Raja
Publication type:
Article
Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
Published in:
IUBMB Life, 2020, v. 72, n. 8, p. 1799, doi. 10.1002/iub.2309
By:
- Abdelwahed, Mayssa;
- Hilbert, Pascale;
- Ahmed, Asma;
- Dey, Mouna;
- Kamoun, Hassen;
- Ammar‐Keskes, Leila;
- Belguith, Neïla
Publication type:
Article
A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
Published in:
IUBMB Life, 2019, v. 71, n. 12, p. 1937, doi. 10.1002/iub.2134
By:
- Abdelwahed, Mayssa;
- Touraine, Renaud;
- Ben‐Rhouma, Bochra;
- Dhieb, Dhoha;
- Mars, Manel;
- Kammoun, Khawla;
- Hachicha, Jamil;
- Triki, Chahnez;
- Kamoun, Hassen;
- Keskes‐Ammar, Leila;
- Belguith, Neila
Publication type:
Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Published in:
Biochemistry & Cell Biology, 2016, v. 94, n. 3, p. 265, doi. 10.1139/bcb-2015-0168
By:
- Kallabi, Fakhri;
- Ben Salah, Ghada;
- Ben Chehida, Amel;
- Tabebi, Mouna;
- Felhi, Rahma;
- Ben Turkia, Hadhami;
- Tebib, Neji;
- Keskes, Leila;
- Kamoun, Hassen
Publication type:
Article

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