P048: Novel frameshift MLH1 germline mutation in a Moroccan Lynch syndrome family

Autor: Abdelhamid Bouramtane, Fatima Zohra Moufid, Mohamed Ahakoud, Laila Bouguenouch, Karim Ouldim

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100067- (2023)

Externí odkaz: https://doaj.org/article/ea56d1436bf64c29aa6b15c9e47502ed

Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects

Autor: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Khadija Belhassan, Imane Samri, Amal Chaouti, Mohammed Iraqui Houssaïni, Samir Atmani, Karim Ouldim

Publikováno v: Eurasian Journal of Medicine, Vol 52, Iss 3, Pp 283-287 (2020)

Externí odkaz: https://doaj.org/article/da99d1801555428da40fb2a3cb55bd72

Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Autor: Imane Samri, Samir Atmani, Ihssane El Bouchikhi, Laila Bouguenouch, Moulay Abdelilah Melhouf, Karim Ouldim, Mohammed Iraqui Houssaini, Khadija Belhassan, Fatima Zohra Moufid, Fatima Abdouss

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

BackgroundNoonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homolog/mitogen-activated protein ki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b88eba69c8d4e00abdf99178944c6ea
http://link.springer.com/article/10.1186/s43042-020-0047-9

Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects

Autor: Khadija Belhassan, Samir Atmani, Imane Samri, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Ihssane El Bouchikhi, Laila Bouguenouch, Amal Chaouti, Karim Ouldim

Publikováno v: Eurasian J Med
Eurasian Journal of Medicine, Vol 52, Iss 3, Pp 283-287 (2020)

Objective Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study ai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a6dffb8e2277bea0d397310d506eb1
https://europepmc.org/articles/PMC7651766/

Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate

Autor: Mohammed Iraqui Houssaini, Samir Atmani, Ihssane El Bouchikhi, Khadija Belhassan, Karim Ouldim, Fatima Zohra Moufid, Laila Bouguenouch, Imane Samri

Publikováno v: International Journal of Pediatrics & Adolescent Medicine
International Journal of Pediatrics and Adolescent Medicine, Vol 3, Iss 4, Pp 133-142 (2016)

Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b30e90f717f374a42b7ecb6fb885f044
https://doi.org/10.1016/j.ijpam.2016.06.003