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A Case Report of a Rare 46,XX/47,XXY Mosaicism With Ovotesticular Disorder of Sex Development and a Literature Review.

Autor: Hssaini M; Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, MAR.; Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohamed Ben Abdellah University, Fez, MAR., Bourkadi G; Department of Endocrinology, Diabetology, and Nutrition, Hassan II University Hospital, Fez, MAR., Ahakoud M; Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, MAR., Bouguenouch L; Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, MAR., Abourazzak S; Department of Pediatric Endocrinology, Hassan II University Hospital, Fez, MAR., Bekkari H; Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohamed Ben Abdellah University, Fez, MAR., Ameli A; Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, MAR.

Publikováno v: Cureus [Cureus] 2024 Jul 31; Vol. 16 (7), pp. e65856. Date of Electronic Publication: 2024 Jul 31 (Print Publication: 2024).

A Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene.

Autor: Abbassi M; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, MAR., Sayel H; Medical Genetics and Oncogenetics Laboratory, Central Laboratory of Medical Analysis, University Hospital Center Hassan II, Fez, MAR., El Mouhi H; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, MAR.; Center for Doctoral Studies Engineering Sciences and Techniques, Faculty of Sciences and Technologies, Sidi Mohammed Ben Abdellah University, Fez, MAR.; Medical Genetics and Oncogenetics Laboratory, Central Laboratory of Medical Analysis, University Hospital Center Hassan II, Fez, MAR., Jelte M; Laboratory of Biotechnology, Environment, Agri-Food and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohamed Ben Abdellah University, Fez, MAR.; Medical Genetics and Oncogenetics Laboratory, Central Laboratory of Medical Analysis, University Hospital Center Hassan II, Fez, MAR., Ahakoud M; Medical Genetics and Oncogenetics Laboratory, Central Laboratory of Medical Analysis, University Hospital Center Hassan II, Fez, MAR.

Publikováno v: Cureus [Cureus] 2023 Aug 12; Vol. 15 (8), pp. e43376. Date of Electronic Publication: 2023 Aug 12 (Print Publication: 2023).

The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study.

Autor: Ahakoud M; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR., Daha Belghiti H; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR., Nedbour A; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR., Bouramtane A; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR., Chaouki S; Pediatric Neurology, Hospital University Hassan II, Fez, MAR., Bouguenouch L; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR., Ouldim K; Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, Fez, MAR.

Publikováno v: Cureus [Cureus] 2023 Apr 20; Vol. 15 (4), pp. e37866. Date of Electronic Publication: 2023 Apr 20 (Print Publication: 2023).

Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.

Autor: Belghiti HD; Medical Center of Biomedical and Translational Research, Hassan II University Hospital, Fez, Morocco., Abbassi M; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco., Sayel H; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco., Ahakoud M; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco., El Makhzen BE; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco., Lee N; Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, United States., Russo S; Istituto Auxologico Italiano Istituto di Ricovero e Cura a Carattere Scientifico, Cytogenetics and Molecular Genetics Laboratory, Milano, Lombardia, Italy., Chaouki S; Department of Neuropediatrics, Hospital University Hassan II, Fez, Morocco., Bouguenouch L; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2022 Aug 16; Vol. 13 (1), pp. 15-21. Date of Electronic Publication: 2022 Aug 16 (Print Publication: 2024).