Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Afef Jelloul"'
Autor:
Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
JCRPE, Vol 15, Iss 1, Pp 25-34 (2023)
INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis
Externí odkaz:
https://doaj.org/article/8375333db12443a28e38b3700a99987d
Autor:
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey
Publikováno v:
Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a
Externí odkaz:
https://doaj.org/article/886ed788882242ce929a902fe1717027
Autor:
Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we carried out a molecu
Externí odkaz:
https://doaj.org/article/329170b053014f82af7fa4f13e5faf63
Autor:
Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)
Abstract Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to
Externí odkaz:
https://doaj.org/article/b1ec27df662d46e596591eb5b6669428
Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype
Autor:
Soumaya Mougou-Zerelli, Rim Khelifi, Afef Jelloul, Houda Ajmi, Sarra Dimassi, Wafa Slimani, Najla Soyeh, Khouloud Rjiba, Manel Dardour, Hamza Hadj Abdallah, Hend Dridi, Asma Guedria, Molka Kammoun, Hela Ben Khelifa, Hayet Mkadem, Ines Hssairi Guidara, Hayet Ben Hamida, Khaled Ben Helel, Habib Kharrat, Essia Sboui, Elies Naffeti, Naoufel Gaddour, Faouzi Maatouk, Hatem El Ghezal, Ali Saad, Ons Nouira, Afif Zouari
Background Williams Beuren Syndrome is a multisystemic disorder manifested by congenital heart defects associated with dysmorphic features, intellectual delay, and a particular behavioural profile due to a microdeletion in 7q11.2. Methods To establis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9c293816195e7d860f1a839aadd47cd
https://doi.org/10.21203/rs.3.rs-2139963/v1
https://doi.org/10.21203/rs.3.rs-2139963/v1
Autor:
Soumaya Mougou-Zerelli, Ahmed Al-Rikabi, Yosra Hasni, Adel Ernez, Amira Sallem, Mohamed Bibi, Thomas Liehr, Ali Saad, Wafa Slimani, Afef Jelloul, Anouar Chaieb, Salma Chachia
Publikováno v:
J Assist Reprod Genet
PURPOSE: To characterize small supernumerary marker chromosomes (sSMC) in infertile males RESEARCH QUESTION: Are molecular cytogenetic methods still relevant for the identification and characterization of sSMC in the era of next-generation sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a73a7b055793ecf58bf9068da7b2f8
https://europepmc.org/articles/PMC7376793/
https://europepmc.org/articles/PMC7376793/
Autor:
Nesrine Jammali, Fatma-Zohra Chioukh, Sarra Dimassi, Molka Kammoun, Ali Saad, Hela Ben Khelifa, Hanene Hannachi, D Sanlaville, Soumaya Mougou-Zerelli, Wafa Slimani, Sarra Bouslah, Afef Jelloul
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)
Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characte