Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Hela Ben Khelifa"'
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:
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a848dc5e06fbd725d759c394d5914ace
http://europepmc.org/articles/PMC6368812
http://europepmc.org/articles/PMC6368812
Autor:
Helene Guilbert, Najla Soyah, Hela Ben Khelifa, Soumaya Mougou-Zerelli, Audrey Labalme, Damien Sanlaville, Ali Saad
Publikováno v:
Journal of Pediatric Genetics. :084-091
Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b24c61d49dd9d8b527da0b42fdd4b8
https://doi.org/10.1055/s-0036-1588027
https://doi.org/10.1055/s-0036-1588027
Autor:
Inesse Ben Abdallah Bouhjar, Hela Ben Khelifa, Najla Soyah, Soumaya Mougou Zerrelli, Moez Gribaa, Hatem Elghezal, Ali Saad, null Prf: Tunisian Network on Mental Ret
Publikováno v:
International Journal of Human Genetics. 12:157-171
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13b8345d39d8c8bdeb006041feee232d
https://doi.org/10.1080/09723757.2012.11886178
https://doi.org/10.1080/09723757.2012.11886178
Autor:
Ali Saad, Hanene Hannachi, Najla Soyah, Hatem Elghezal, Molka Kammoun, Soumaya Mougou-Zerelli, Saber Hammami, Hela Ben Khelifa, Damien Sanlaville
Publikováno v:
Journal of pediatric genetics. 4(4)
We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means of oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or behavioral pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e0017d7ce9f0cdc6b1adbf75691e7e
https://pubmed.ncbi.nlm.nih.gov/27617130
https://pubmed.ncbi.nlm.nih.gov/27617130
Autor:
Ryma Gritly, Ali Saad, Soumaya Mougou-Zerelli, Hela Ben Khelifa, Hatem Elghezal, Inesse Ben-Abdallah-Bouhjar, Najla Soyah, Damien Sanlaville
Publikováno v:
Gene. 527(2)
X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282bd49ccb3c6ace77d4239b13cca757
https://pubmed.ncbi.nlm.nih.gov/23791652
https://pubmed.ncbi.nlm.nih.gov/23791652
Autor:
Mouna Turki, Fatma Kamoun, Kamel Jamoussi, Foued Haj Salama, Abdelhedi Miled, Fahmi Nasrallah, Ali Saad, Habiba Chaabouni, Meriam Messeddi, Ahmed Sahloul Essoussi, Ben Dridi, Soumaya Mougou, M. Chaabouni, Henda Chahed, Elyes Chabchoub, Haifa Sanhaji, Hatem Elghezal, Houda Ben Othman, Faouzi Maaloul, Hela Ben Khelifa, Hassen Kamoun, E. Ellouz, Inesse Ben Abdallah Bouhjar, Salima Ferchichi, Jihene Bouguila, Marie Françoise, A. Achour, Hend Ben Khelifa, Lamia Ben Jemaa, Fatma Ayedi, Ramzi Zemni, Moez Gribaa, Lamia Boughamoura
Publikováno v:
INTERNATIONAL JOURNAL OF HUMAN GENETICS. 12
With the development of molecular cytogenetic techniques, it is possible to identify cryptic rearrangements involving the end of chromosomes. Subtelomeric chromosomal rearrangements represent a significant cause of idiopathic intellectual disability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2060e79008602cbd66a787c228b7dc66
https://doi.org/10.31901/24566330.2012/12.03.05
https://doi.org/10.31901/24566330.2012/12.03.05