Works by Abdel-Ghafar, Sherif F.

Results: 17

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB‐Related Neurodevelopmental Disorders.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 184, doi. 10.1111/cge.14720

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas S. M.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-06857-2

By:

Rafat, Karima;
Abdel-Aleem, Asmaa F.;
Elbendary, Hasnaa M.;
Issa, Mahmoud Y.;
Essawi, Mona L.;
Abdel-Ghafar, Sherif F.;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 226, doi. 10.1002/ajmg.a.63425

By:

Issa, Mahmoud Y.;
Hafez, Mona A.;
Mounir, Samir M.;
Abdel Ghafar, Sherif F.;
Zaki, Maha S.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246

By:

Otaify, Ghada A.;
Elhossini, Rasha M.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas M.;
Abdel‐Salam, Ghada M. H.;
Aglan, Mona S.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

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

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481

By:

Elkhateeb, Nour;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Elnaggar, Walaa;
Ramadan, Areef;
Rafat, Karima;
Kamel, Mona;
Abdel‐Ghafar, Sherif F.;
Amer, Fawzia;
Hassaan, Hebatallah M.;
Trunzo, Roberta;
Pereira, Catarina;
Abdel‐Hamid, Mohamed S.;
D'Arco, Felice;
Bauer, Peter;
Bertoli‐Avella, Aida M.;
Girgis, Marian;
Gleeson, Joseph G.;
Zaki, Maha S.;
Selim, Laila

Publication type:

Article

Delineating the phenotype of PNPLA8‐related mitochondriopathies.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.;
Abdel‐Ghafar, Sherif F.;
Zaki, Maha S.

Publication type:

Article

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 445, doi. 10.1111/cge.13825

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Ismail, Suzan R.;
Desouky, Lubna M.;
Issa, Mahmoud Y.;
Effat, Laila K.;
Zaki, Maha S.

Publication type:

Article

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2

By:

Abdel-Hamid, Mohamed S.;
Sabry, Sahar;
Abdel-Ghafar, Sherif F.;
El-Dessouky, Sara H.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 919, doi. 10.1007/s00438-023-02025-1

By:

Mazen, Inas H.;
El-Gammal, Mona A.;
Elaidy, Aya A.;
Anwar, Ghada M.;
Ashaat, Engy A.;
Abdel-Ghafar, Sherif F.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1815, doi. 10.1002/ajmg.a.62718

By:

Otaify, Ghada A.;
Abdel‐Hamid, Mohamed S.;
Hassib, Nehal F.;
Elhossini, Rasha M.;
Abdel‐Ghafar, Sherif F.;
Aglan, Mona S.

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585

By:

Abdel‐Salam, Ghada M. H.;
Sayed, Inas S. M.;
Afifi, Hanan H.;
Abdel‐Ghafar, Sherif F.;
Abouzaid, Maha R.;
Ismail, Samira I.;
Aglan, Mona S.;
Issa, Mahmoud Y.;
EL‐Bassyouni, Hala T.;
El‐Kamah, Ghada;
Effat, Laila K.;
Eid, Maha;
Zaki, Maha S.;
Temtamy, Samia A.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

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

Published in:

Molecular Biology Reports, 2023, v. 50, n. 8, p. 6373, doi. 10.1007/s11033-023-08500-7

By:

Sabry, Sahar;
Issa, Mahmoud Y;
Abdel-Hamid, Mohamed S;
Eissa, Noura R;
Abdel-Ghafar, Sherif F;
Ibrahim, Mona M;
Zaki, Maha S

Publication type:

Article

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.

Published in:

Osteoporosis International, 2022, v. 33, n. 7, p. 1501, doi. 10.1007/s00198-022-06313-1

By:

Abdel-Hamid, Mohamed S.;
Elhossini, Rasha M.;
Otaify, Ghada A.;
Abdel-Ghafar, Sherif F.;
Aglan, Mona S.

Publication type:

Article

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf055

By:

Abdel-Hamid, Mohamed S;
Paimboeuf, Adeline;
Zaki, Maha S;
Figueiredo, Fernanda;
Abdel-Ghafar, Sherif F;
Maher, Sabrina;
Friðriksdóttir, Rún;
Sulem, Patrick;
Högnason, Hákon Björn;
Hallgrímsdóttir, Sigrún;
Rojas, Catarina Falleiros N;
Kok, Fernando;
Suri, Mohnish;
Alves, César Augusto P F;
Houlden, Henry;
Maroofian, Reza;
Patten, Shunmoogum A

Publication type:

Article

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families.

Published in:

Middle East Journal of Medical Genetics, 2020, v. 9, n. 2, p. 1

By:

Megahed, Hisham;
Ismail, Samira;
Mona, S Aglan;
Samia, A Temtamy;
Ahmed, L Abulnasr;
Engy, A Ashaat;
Ghada, A Otaify;
Elhossini, Rasha;
Sherif, F Abdel-Ghafar;
Mohamed, S Abdel-Hamid

Publication type:

Article