The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Autor: Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elnaggar W; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Ramadan A; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Kamel M; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Abdel-Ghafar SF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Amer F; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Hassaan HM; Department of Pediatrics, Clinical Genetics Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Trunzo R; CENTOGENE GmbH, Rostock, Germany., Pereira C; CENTOGENE GmbH, Rostock, Germany., Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., D'Arco F; Radiology Department, Great Ormond Street Hospital for Children, London, UK., Bauer P; CENTOGENE GmbH, Rostock, Germany., Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany., Girgis M; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, USA.; Rady Children's Hospital, Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 510-522. Date of Electronic Publication: 2024 Jan 14.

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Autor: Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hafez MA; Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mounir SM; Pediatrics Department, Faculty of Medicine, Minia University, Minia, Egypt., Abdel Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 226-232. Date of Electronic Publication: 2023 Oct 05.

An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.

Autor: Sabry S; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. sas_pharmacienne@yahoo.com., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Eissa NR; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Ibrahim MM; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

Publikováno v: Molecular biology reports [Mol Biol Rep] 2023 Aug; Vol. 50 (8), pp. 6373-6379. Date of Electronic Publication: 2023 Jun 15.

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Autor: Mazen IH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Gammal MA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elaidy AA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Anwar GM; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Eltahrir Street, Dokki, Cairo, 12311, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Eltahrir Street, Dokki, Cairo, 12311, Egypt. mohamadnrc@hotmail.com.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Jul; Vol. 298 (4), pp. 919-929. Date of Electronic Publication: 2023 May 04.

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Autor: Otaify GA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hassib NF; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1815-1825. Date of Electronic Publication: 2022 Mar 12.