Zobrazeno 1 - 10 of 31 pro vyhledávání: '"Otaify, GA"'
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Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Autor: Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Sentürk L, Berköz Ö, Yildiran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A, ECEMC Working Group on Polydactyly, Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL
Publikováno v: HUMAN MUTATION
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP-B corresponding to a more rudimentary extra-digit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::606961d324634af97226ea3e9a3c9690
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=4012
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3
Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients
Autor: Aglan, MS, Abdel-Aleem, AK, EL-Katoury, A IS, Hafez, MH, Saleem, SN, Otaify, GA, Temtamy, SA
Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 10, No 1 (2009)
Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age. Th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::4b668c756260429ce468c6a87f8cb166
https://www.ajol.info/index.php/ejhg/article/view/44156
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4
Akademický článek
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel 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., 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., Sayed IM; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Clinical 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., 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] 2023 Aug; Vol. 191 (8), pp. 2100-2112. Date of Electronic Publication: 2023 May 14.
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5
Akademický článek
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
Autor: Otaify GA; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address: ghadaotaify@yahoo.com., Al Baluki W; Department of Surgery, Division of Orthopedic Surgery, College of Medicine and Health Sciences, Sultan Qaboos University, Sultan Qaboos University Hospital, Muscat, Oman., Al-Rashdi S; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104640. Date of Electronic Publication: 2022 Oct 13.
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6
Akademický článek
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Autor: Iturrate A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain., Rivera-Barahona A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain., Flores CL; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain., Otaify GA; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Elhossini R; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Perez-Sanz ML; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain., Nevado J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPAZ, ITHACA-ERN, 28046 Madrid, Spain., Tenorio-Castano J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPAZ, ITHACA-ERN, 28046 Madrid, Spain., Triviño JC; Bioinformatics Group, Sistemas Genómicos, Paterna, Spain., Garcia-Gonzalo FR; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain; Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, 28029 Madrid, Spain; Área de Cáncer y Genética Molecular Humana, Instituto de Investigaciones del Hospital Universitario La Paz, 28046 Madrid, Spain., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy; Department of Experimental Medicine, 'Sapienza' University of Rome, 00161 Rome, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Martínez L; Departamento de Cirugía Pediátrica. Hospital Universitario La Paz-IdiPAZ, ITHACA-ERN, 28046 Madrid, Spain., Kalaycı T; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey., Lapunzina P; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPAZ, ITHACA-ERN, 28046 Madrid, Spain., Altunoglu U; Medical Genetics Department, Koç University School of Medicine, Istanbul 34450, Turkey., Aglan M; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPAZ, ITHACA-ERN, 28046 Madrid, Spain. Electronic address: vlruiz@iib.uam.es.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1828-1849. Date of Electronic Publication: 2022 Sep 08.
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7
Akademický článek
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
Autor: Abdel-Hamid MS; Medical Molecular Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Tahrir street, Dokki, Cairo, Egypt. mohamadnrc@hotmail.com., Elhossini RM; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Otaify GA; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Abdel-Ghafar SF; Medical Molecular Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Tahrir street, Dokki, Cairo, Egypt., Aglan MS; Clinical Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Publikováno v: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2022 Jul; Vol. 33 (7), pp. 1501-1510. Date of Electronic Publication: 2022 Feb 01.
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8
Akademický článek
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.
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9
Akademický článek
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Autor: Elhossini RM; 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., Ashaat E; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Otaify GA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Dawoud H; Genetics Unit, Department of Pediatrics, Tanta University, Tanta, Egypt., Elshimy K; Department of Surgery, Tanta University, Tanta, Egypt., El Ruby M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aglan M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Publikováno v: Congenital anomalies [Congenit Anom (Kyoto)] 2022 Mar; Vol. 62 (2), pp. 68-77. Date of Electronic Publication: 2022 Jan 03.
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10
Akademický článek
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Autor: Mohamed AM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Kamel AK; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Eid MM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Eid OM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Mekkawy M; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Hussein SH; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Zaki MS; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Esmail S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Afifi HH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Kamah GY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Otaify GA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Awady HA; Department of Pediatrics, Faculty of Medicine, Fayoum University, Fayoum, Egypt., Elaidy A; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Essa MY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Ruby M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Ashaat EA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Hammad SA; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Mazen I; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Aglan M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Temtamy S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1829. Date of Electronic Publication: 2021 Oct 05.
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