Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hanene Hannachi"'
Autor:
Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described
Externí odkaz:
https://doaj.org/article/6e8d2af9d0624869a30bede1b6354a49
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
Autor:
Amel Taj, Khaled Ben Helel, Ali Saad, Wafa Slimani, Meriam Hadj Amor, Hanene Hannachi, Soumaya Mougou-Zerelli, Adnene Mlika, Sarra Dimassi
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21910608b540b9605a61d07ba8b4fe59
https://pubmed.ncbi.nlm.nih.gov/32028920
https://pubmed.ncbi.nlm.nih.gov/32028920
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:
Hanene Hannachi, Inesse Ben Abdallah Bouhjar, Soumaya Mougou-Zrelli, Ali Saad, Abir Gmidène, Naoufel Gadour, Hatem Elghezal, Imed Harrabi, Najla Soyah
Publikováno v:
Journal of Pediatric Genetics. :175-180
Mental retardation affects 1–3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogenetics of Fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fdad86779d711d3d171339b2f6bf85c
https://doi.org/10.3233/pge-2012-027
https://doi.org/10.3233/pge-2012-027
Publikováno v:
Journal of pediatric genetics. 6(4)
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670cda2b85d7a5a5d72ddcea9a5e9650
https://pubmed.ncbi.nlm.nih.gov/29142763
https://pubmed.ncbi.nlm.nih.gov/29142763
Autor:
Inesse Ben-Abdallah-Bouhjar, Hanene Hannachi, Ali Saad, Hatem Elghezal, Moez Gribaa, Soumaya Mougou, Abir Gmidène, Damien Sanlaville, Audrey Labalme, Najla Soyah
Publikováno v:
European Journal of Medical Genetics. 55:461-465
Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader-Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d7ec59f292275b8f627320ee7ddb5
https://doi.org/10.1016/j.ejmg.2012.04.011
https://doi.org/10.1016/j.ejmg.2012.04.011
Publikováno v:
European Journal of Medical Genetics. 50:441-445
Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750527fda7a7675e4e7e88290aa51cd4
https://doi.org/10.1016/j.ejmg.2007.07.002
https://doi.org/10.1016/j.ejmg.2007.07.002
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
Publikováno v:
Pediatric neurology. 44(1)
Chromosomal imbalances comprise a major cause of mental retardation, particularly in association with congenital malformations and dysmorphic features. Chromosomal analysis using banded karyotyping is limited by the low resolution of this technique,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47569a562dab06f11c236f2236ffa52
https://pubmed.ncbi.nlm.nih.gov/22704025
https://pubmed.ncbi.nlm.nih.gov/22704025