Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Neila Belghith"'
1
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
Autor: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari
Publikováno v: Kidney international. 98(6)
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 indivi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59a
https://pubmed.ncbi.nlm.nih.gov/33276865
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2
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease
Autor: Khansa Chaabouni, Laurence Michel-Calemard, Yosr Chaabouni, Hassen Kamoun, Mayssa Abdelwahed, Leila Ammar-Keskes, Yves Morel, Jamil Hachicha, Neila Belghith, Fatma Makni
Publikováno v: The international journal of biochemistrycell biology. 117
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare group of disease that affect the tubules of the kidney. There are 4 known subtypes of ADTKD classified based on causative genes and clinical features. In our study, we aimed to id
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19838925428ba043f2adb64195f7c27b
https://pubmed.ncbi.nlm.nih.gov/31586593
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5
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome
Autor: Chahnez Triki, Yosra Kamoun, Leila Ammar-Keskes, Marwa Kharrat, Nourhene Fendri-Kriaa, Fatma Kamoun, Emna Ellouze, Ali Gargouri, Faiza Fakhfakh, Neila Belghith, Marwa Maalej
Publikováno v: Journal of Child Neurology
Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::119455144825cd84835a837dacac0300
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6
Sister chromatid exchange (SCE) and high-frequency cells (HFC) in peripheral blood lymphocytes of healthy Tunisian smokers
Autor: Ahmed Rebai, Neila Belghith-Mahfoudh, Hajer Ayadi, Achraf Ben Youssef, Ghada Ben Salah, Faiza Fakhfakh, H. Ayadi, Hassen Kamoun, Amine Fourati
Publikováno v: Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 719:1-6
Cigarette smoking is a major public health problem in Tunisia as it concerns up to 30-35% of the adult population, raising important national issues on tobacco-related disease. The aim of this study was to establish whether cigarette smoking increase
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23223307a120bb607f1a466c05822a51
https://doi.org/10.1016/j.mrgentox.2010.09.003
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7
Pseudohypoparathyroïdie : à propos de deux cas
Autor: Mohamed Abid, Dorra Ghorbel, Thouraya Kammoun, N. Charfi, M. Hachicha, M. Mnif Feki, Wajdi Safi, R. Chaabane, Nabila Rekik, Houcem Mrabet, Neila Belghith, Leila Keskes
Publikováno v: Annales d'Endocrinologie. 78:377
Introduction La pseudohypoparathyroidie (PHP) est un spectre de maladies ayant en commun un defaut d’action de la PTH caracterise par une grande variabilite d’expression clinique et genetique. Nous rapportons ici deux cas de PHP suivis a notre se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::117e792019a009a757f08d58573e72bf
https://doi.org/10.1016/j.ando.2017.07.523
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8
Prenatal diagnosis of chromosome disorders in Tunisian population#1Institute where the work was conducted is Service des Maladies Héréditaires et Congénitales Hôpital Charles Nicolle Tunis
Autor: Lamia Ben Jemaa, Hana Ridene, Habiba Chaabouni, Faouzi Maazoul, Faouzia Zouari, Nizar Smaoui, Neila Belghith, Boujemaa Oueslati, M. Chaabouni, Hassen Kammoun, Khaled Terras, Ridha Mrad
Publikováno v: Annales de Génétique. 44:99-104
Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultura
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88c01d27f2e4eadbe5b2b11162bf0196
https://doi.org/10.1016/s0003-3995(01)01046-2
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9
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]
Autor: Myriam, Chaabouni, Mounir, Fersi, Neila, Belghith, Faouzi, Maazoul, Ridha, M'rad, Lamia, Ben Jemaa, Najoua, Gandoura, Habiba, Chaabouni
Publikováno v: La Tunisie medicale. 85(10)
Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7997341d5a269cf915d596b07b9dbab3
https://pubmed.ncbi.nlm.nih.gov/18236814
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