Search Results - "Belghith, Neila"

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease by Abdelwahed, Mayssa, Chaabouni, Yosr, Michel-Calemard, Laurence, Chaabouni, Khansa, Morel, Yves, Hachicha, Jamil, Makni, Fatma Ayedi, Kamoun, Hassen, Ammar-Keskes, Leila, Belghith, Neila

“…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…”
Get full text

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 by Kharrat, Marwa, Kamoun, Yosra, Kamoun, Fatma, Ellouze, Emna, Maalej, Marwa, Fendri-Kriaa, Nourhene, Ammar-Keskes, Leila, Belghith, Neila, Gargouri, Ali, Triki, Chahnez, Fakhfakh, Faiza

“…Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses…”
Get full text

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 by Chaabouni, Habiba, Chaabouni, Myriam, Maazoul, Faouzi, M’Rad, Ridha, Jemaa, Lamia Ben, Smaoui, Nizar, Terras, Khaled, Kammoun, Hassen, Belghith, Neila, Ridene, Hana, Oueslati, Boujemaa, Zouari, Faouzia

Get full text

Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial by Chaabouni, Myriam, Fersi, Mounir, Belghith, Neila, Maazoul, Faouzi, M'rad, Ridha, Ben Jemaa, Lamia, Gandoura, Najoua, Chaabouni, Habiba

“…Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis…”
Get more information

Sister chromatid exchange (SCE) and high-frequency cells (HFC) in peripheral blood lymphocytes of healthy Tunisian smokers by Ben Salah, Ghada, Kamoun, Hassen, Rebai, Ahmed, Ben Youssef, Achraf, Ayadi, Hajer, Belghith-Mahfoudh, Neila, Fourati, Amine, Ayadi, Hamadi, Fakhfakh, Faiza

“…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…”
Get full text

Prenatal diagnosis of chromosome disorders in Tunisian population by Chaabouni, Habiba, Chaabouni, Myriam, Maazoul, Faouzi, M’Rad, Ridha, Jemaa, Lamia Ben, Smaoui, Nizar, Terras, Khaled, Kammoun, Hassen, Belghith, Neila, Ridene, Hana, Oueslati, Boujemaa, Zouari, Faouzia

“…Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in…”
Get full text