Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype

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

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

Abstract Background Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-riding aorta, and right

Externí odkaz: https://doaj.org/article/2fc64bb9841f4df88cb233028ea67f7d

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

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

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

Abstract Background Noonan 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

Externí odkaz: https://doaj.org/article/8c81a1981aa24cda858da711a34b2f71

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

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Autor: Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Marc-Phillip Hitz, Hashim Abdul-Khaliq, Felix Berger, Ingo Dähnert, Sven Dittrich, Anselm Uebing, Brigitte Stiller, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(10), 1952-1960. Lippincott Williams and Wilkins
Genetics in Medicine, 23(10), 1952-1960. SPRINGERNATURE
Škorić-Milosavljević, D, Lahrouchi, N, Bosada, FM, Dombrowsky, G, Williams, SG, Lesurf, R, Tjong, FVY, Walsh, R, El, B I, Breckpot, J, Audain, E, Bezzina, CR & Keavney, B 2021, ' Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01212-y

PURPOSE: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear. METH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afbca70db70b5fa002b2766fd74cae1
https://hdl.handle.net/1887/3238113

KCNJ11: Genetic Polymorphisms and Risk of Maturity Onset Diabetes of the Young (MODY) and Early-onset type 2 Diabetes

Autor: Said Trhanint, Laila Bouguenouch, Ihssane El bouchikhi, Mohamed Ahakoud, Sana Abourazzak, Hanan El ouahabi, Hanane Latrech, Karim Ouldim, Lahsen El Ghadraoui, Nadia Maazouzi

Background: KCNJ 11 gene encodes the Kir 6.2 subunit of ATP- sensitive potassium channel which is a critical regulator of pancreatic beta-cell insulin secretion. Genetic screening and analyses have helped several patient carrying mutations in the KCN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bb827d991ddd7831bd21a0a3940abb