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Your search keyword '"Otaify, Ghada A."' showing total 9 results
Start Over Author "Otaify, Ghada A." Journal american journal of medical genetics part a
9 results on '"Otaify, Ghada A."'

4. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

Author

Zaki, Maha S., primary, Otaify, Ghada A., additional, Ismail, Samira, additional, Issa, Mahmoud Y., additional, El‐Ruby, Mona O., additional, Sadek, Abdelrahim A., additional, Ashaat, Engy A., additional, El Saeidi, Sonia A., additional, Aglan, Mona S., additional, Temtamy, Samia, additional, and Abdel‐Hamid, Mohamed S., additional

Published
2020
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5. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Author

Abdel‐Hamid, Mohamed S., primary, Ismail, Samira, additional, Zaki, Maha S., additional, Abdel‐Salam, Ghada M. H., additional, Otaify, Ghada A., additional, Issa, Mahmoud Y., additional, Abdel‐Kader, Mohamed, additional, Girgis, Marian, additional, Aboul‐Ezz, Eman, additional, Mazen, Inas, additional, Aglan, Mona S., additional, and Temtamy, Samia A., additional

Published
2018
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6. Molecular and clinical analysis ofALPLin a cohort of patients with suspicion of Hypophosphatasia

Author

Tenorio, Jair, primary, Álvarez, Ignacio, additional, Riancho-Zarrabeitia, Leyre, additional, Martos-Moreno, Gabriel Á., additional, Mandrile, Giorgia, additional, de la Flor Crespo, Monserrat, additional, Sukchev, Mikhail, additional, Sherif, Mostafa, additional, Kramer, Iza, additional, Darnaude-Ortiz, María T., additional, Arias, Pedro, additional, Gordo, Gema, additional, Dapía, Irene, additional, Martinez-Villanueva, Julián, additional, Gómez, Rubén, additional, Iturzaeta, José Manuel, additional, Otaify, Ghada, additional, García-Unzueta, Mayte, additional, Rubinacci, Alessandro, additional, Riancho, José A., additional, Aglan, Mona, additional, Temtamy, Samia, additional, Hamid, Mohamed Abdel, additional, Argente, Jesús, additional, Ruiz-Pérez, Víctor L., additional, Heath, Karen E., additional, and Lapunzina, Pablo, additional

Published
2017
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7. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations

Author

Aglan, Mona, primary, Amr, Khalda, additional, Ismail, Samira, additional, Ashour, Adel, additional, Otaify, Ghada A., additional, Mehrez, Mennat Allah I., additional, Aboul-Ezz, Eman H. A., additional, El-Ruby, Mona, additional, Mazen, Inas, additional, Abdel-Hamid, Mohamed S., additional, and Temtamy, Samia A., additional

Published
2015
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8. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Author

Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, and Temtamy SA

Subjects
Alopecia pathology, Anodontia pathology, Child, Child, Preschool, Female, Growth Disorders pathology, Homozygote, Humans, Infant, Male, Optic Atrophies, Hereditary pathology, Optic Atrophy pathology, Alopecia genetics, Anodontia genetics, Growth Disorders genetics, Microfilament Proteins genetics, Optic Atrophies, Hereditary genetics, Optic Atrophy genetics, Receptors, Cell Surface genetics, Sequence Deletion genetics
Abstract

GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of seven new patients with GAPO syndrome. Our patients presented with the characteristic clinical features of the syndrome except for one patient who did not display total alopecia till the age of two years. Strikingly, optic atrophy and glaucoma were observed in all patients and one patient showed keratopathy in addition. Moreover, craniosynstosis was an unusual associated finding in one patient. Mutational analysis of ANTXR1 gene identified five novel homozygous mutations including two frameshift, two splice site and a large intragenic deletion of exon 3. Our results reinforce the clinical characteristics of the syndrome, expand the mutational spectrum and provide more insights into the role of the ANTXR1 protein in the regulation of extracellular matrix., (© 2018 Wiley Periodicals, Inc.)

Published
2019
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9. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Author

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, and Temtamy SA

Subjects
Child, Child, Preschool, DNA Mutational Analysis, Egypt, Female, Genotype, Humans, Infant, Male, Pedigree, Phenotype, Prognosis, Spine pathology, Syndrome, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Genes, Recessive genetics, Limb Deformities, Congenital genetics, Limb Deformities, Congenital pathology, Maxillofacial Abnormalities genetics, Maxillofacial Abnormalities pathology, Mutation genetics, Receptor Tyrosine Kinase-like Orphan Receptors genetics, Spine abnormalities
Abstract

Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypic presentation and overlapping features. Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the ROR2 gene. Here, we present the clinical, radiological and molecular findings of 11 Egyptian patients from 7 unrelated consanguineous families with clinical features of ARRS. Mutation analyses of ROR2 gene identified five pathogenic mutations distributed all over the gene. The identified mutations included four novel (G326A, D166H, S677F, and R528Q) and one previously reported (Y192D). Our results extend the number of ROR2 mutations identified so far, suggest a founder effect in the Egyptian population, and emphasize the important role of genetic testing in proper counseling and patients' management., (© 2015 Wiley Periodicals, Inc.)

Published
2015
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