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

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

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

P046: Involvement of MLH1 and MSH2 genes in hereditary susceptibility to CRC in the Moroccan population

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

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome

Autor: ABDOUSS Fatima, AHAKOUD Mohamed, BOUGUENOUCH Laila, SOUILMI Fatima Zohra, OULDIM Karim

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2659::6be8e98a10d0d92dd386963d5e44b884
https://zenodo.org/record/5701799

In-depth exploration of differences of sex development: 5-year experience in a tertiary center.

Autor: Hssaini M; Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco.; Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco., Abourazzak S; Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco., El Otmani I; Laboratory of Health Sciences and Technologies, Higher Institute of Health Sciences, Hassan First University of Settat, Morocco., Ahakoud M; Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco., Ameli A; Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco., Bouguenouch L; Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco., Bekkari H; Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco.

Publikováno v: Endocrine connections [Endocr Connect] 2024 Sep 13; Vol. 13 (10). Date of Electronic Publication: 2024 Sep 13 (Print Publication: 2024).

FLT3 Mutations in Acute Myeloid Leukemia: Unraveling the Molecular Mechanisms and Implications for Targeted Therapies.

Autor: Jalte M; Laboratory of Biotechnology, Environment, Agri-Food, and Health (LBEAH), Faculty of Sciences Dhar El Mahraz, Sidi Mohamed Ben Abdellah University, Fez, MAR., Abbassi M; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohamed Ben Abdellah University, Fez, MAR., El Mouhi H; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohamed Ben Abdellah University, Fez, MAR., Daha Belghiti H; Laboratory of Medical Genetics and Oncogenetics, Hospital University Hassan II, Fez, MAR., Ahakoud M; Laboratory of Medical Genetics and Oncogenetics, Hospital University Hassan II, Fez, MAR., Bekkari H; Laboratory of Biotechnology, Environment, Agri-Food, and Health (LBEAH), Faculty of Sciences Dhar El Mahraz, Sidi Mohamed Ben Abdellah University, Fez, MAR.

Publikováno v: Cureus [Cureus] 2023 Sep 22; Vol. 15 (9), pp. e45765. Date of Electronic Publication: 2023 Sep 22 (Print Publication: 2023).