Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Habiba Chaabouni Bouhamed"'
Autor:
Marius Ilie, Khaled Ben Romdhane, Véronique Hofman, Lucile Broncy, Jane Muret, A. Mejean, Paul Hofman, Basma Ben Njima, Christophe Béroud, Habiba Chaabouni Bouhamed, And Patrizia Paterlini-Bréchot
Publikováno v:
Oncotarget
// Lucile Broncy 1 , Basma Ben Njima 2 , Arnaud Mejean 3 , Christophe Beroud 4, 5 , Khaled Ben Romdhane 2 , Marius Ilie 6 , Veronique Hofman 6 , Jane Muret 7 , Paul Hofman 6 , Habiba Chaabouni Bouhamed 2 , and Patrizia Paterlini-Brechot 1, 8 1 INSERM
Publikováno v:
Molecular Genetics & Genomic Medicine
Genetics and genomic medicine in Tunisia.
Publikováno v:
Journal of Biosocial Science. 47:718-726
SummaryConsanguineous unions are a deeply rooted social practice among traditional societies. Despite their presumed social advantages, they can result in several health conditions. The aim of this study was: i) to compare consanguinity levels betwee
Autor:
Habiba Chaabouni-Bouhamed, Wided Kelmemi, Marieke Teeuw, Maher Kharrat, Leo P. ten Kate, Marianne A. Jonker
Publikováno v:
Human Heredity, 80(2), 69-78. S. Karger AG
Jonker, M A, Teeuw, M E, Kelmemi, W, Kharrat, M, Chaabouni-Bouhamed, H & ten Kate, L P 2015, ' Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity ', Human Heredity, vol. 80, no. 2, pp. 69-78 . https://doi.org/10.1159/000438862
Jonker, M A, Teeuw, M E, Kelmemi, W, Kharrat, M, Chaabouni-Bouhamed, H & ten Kate, L P 2015, ' Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity ', Human Heredity, vol. 80, no. 2, pp. 69-78 . https://doi.org/10.1159/000438862
Objective Estimating the total allele frequency of all pathogenic alleles of an autosomal recessive disease is not possible if only mutational data of a sample of affected individuals are available. However, if the affected individuals come from a po
Autor:
Fethi Khomsi, Imen Lariani, Amor Gamoudi, Kinan Rahal, A. E. May, Mohamed El Ghourabi, Maher Kharrat, Aouatef Riahi, Habiba Chaabouni-Bouhamed
Publikováno v:
Clinical Genetics. 87:155-160
The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early
Publikováno v:
Breast cancer (Tokyo, Japan). 24(2)
With the increasing request for BRCA1/BRCA2 mutation tests, several risk models have been developed to predict the presence of mutation in these genes; in this study, we have developed an efficient BRCA genetic testing strategy. As first step, to ide
Publikováno v:
Open Journal of Ophthalmology. :64-70
Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian families. Methods: Four genes (EPHA
Autor:
Anne Garceau, Claudia Petruccio, John M. G. van Vugt, Matthijs van den Berg, André J.H.A. Ament, Kenna R. Mills Shaw, Marianne L.L. van Genugten, Esther Warshauer-Baker, Adebola O. Odunlami, Thomas Karger, Jean Jenkins, Nancy G. Stevens, Zintesia Page, Amy Skillman, Penny Kyler, Leo P. ten Kate, Colleen M. McBride, Timothy S. McNeel, Marsha Dunn, Danielle R.M. Timmermans, Johanna H. Kleinveld, Ilana Harlow, M Hoogendoorn, Barry I. Graubard, Joann Boughman, Margaret Kruesi, Sharon F. Terry, Silvia M. A. A. Evers, G. Ardine de Wit, Louise Wideroff, Jacques Th. M. van Eijk, Gerrit van der Wal, Habiba Chaabouni-Bouhamed, Vence L. Bonham, Fredrika McKain, Peter C.J.I. Schielen, Carlos Fernandez, James O'Leary, Michele A. Lloyd-Puryear, Alan H. Bittles
Publikováno v:
Public Health Genomics. 11:I-IV
Autor:
Raja Mzahma, Abdeljelil Zaouche, Maher Kharrat, Fadhel Fetiriche, Chadli Dziri, Zoubeir Ben Safta, Mounir Ben Moussa, Habiba Chaabouni-Bouhamed, Bouasker
Publikováno v:
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 36(11)
Alterations in telomere dynamics have emerged as having a causative role in carcinogenesis. Both the telomere attrition contribute to tumor initiation via increasing chromosomal instability and that the telomere elongation induces cell immortalizatio
Publikováno v:
Investigative ophthalmologyvisual science. 56(2)
PURPOSE The object of this study is to identify the underlying genetic defect in a consanguineous Tunisian family affected with autosomal recessive congenital cataract associated with mental retardation and microcephaly. METHODS A whole-genome scan w