Výsledky vyhledávání - "Nehal F. Hassib"

Akademický článek

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

Autor: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif

Publikováno v: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)

Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature),

Externí odkaz: https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34

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Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature

Autor: Nesma M. Elaraby, Hoda A. Ahmed, Neveen A. Ashaat, Sameh Tawfik, Mahmoud K. H. Ahmed, Nehal F. Hassib, Engy A. Ashaat

Publikováno v: Journal of Molecular Neuroscience. 72:2242-2251

Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::819803bda1a4c6700f57ca9ca54c2e85
https://doi.org/10.1007/s12031-022-02074-y

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

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

Publikováno v: American Journal of Medical Genetics Part A. 188:1815-1825

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6bc98ff221888f0fe65cfee3ded3239c
https://doi.org/10.1002/ajmg.a.62718

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Confirmation of a Phenotypic Entity for

Autor: Eman A, Rabie, Inas S M, Sayed, Khalda, Amr, Hoda A, Ahmed, Mostafa I, Mostafa, Nehal F, Hassib, Heba, El-Sayed, Suher K, Zada, Ghada, El-Kamah

Publikováno v: Genes. 13(6)

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9ee21af48b7df9f5f5a0d422682e1c1c
https://pubmed.ncbi.nlm.nih.gov/35741818

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

Autor: Ghada A, Otaify, Mohamed S, Abdel-Hamid, Nehal F, Hassib, Rasha M, Elhossini, Sherif F, Abdel-Ghafar, Mona S, Aglan

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(6)

Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in FKBP10 or PLOD2 genes. Herein, we describe 13 patients from 9 unrelated Egyptian families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::51d85000dcbc7c26d3daaa021af56b0b
https://pubmed.ncbi.nlm.nih.gov/35278031

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Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More Than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

Autor: Maha Rashed Abouzaid, Nehal F. Hassib, Hoda Abdalla Ahmed, Mohamed Ahmed Abdel‐Kader, Mostafa I. Mostafa, Mennat I Mehrez, Ghada El-Kamah, Suher Zada, Inas S. M. Sayed, Khalda Amr, Yasmine H. Mohsen, Eman Rabie

Publikováno v: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1389, p 1389 (2021)

Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands. Molecular pathogenesis of ED involves m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5ba72ef3a5b4aa11737c3a1daf3bd49

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Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

Publikováno v: International Journal of Molecular Sciences, Vol 20, Iss 21, p 5282 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 21

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2cbeed326c365d97e9686760479cd19
https://lirias.kuleuven.be/handle/123456789/642743

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Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature

Autor: Nehal F. Hassib, Hoda A. ElSadek, Mona E. Wali, Mona Shoeib, Mohamed S. Abdel-Hamid, Mostafa I. Mostafa

Publikováno v: European journal of medical genetics. 63(11)

Enamel renal syndrome (ERS) or so-called amelogenesis imperfecta type IG is a very rare disorder characterized by the triad of amelogenesis imperfecta, gingival enlargement and nephrocalcinosis. It is caused by biallelic mutations in the FAM20A gene.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::858ac6376ec55a578197e16310042314
https://pubmed.ncbi.nlm.nih.gov/32835847

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