Otaify GA - Search Results

1

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Otaify GA, Whyte MP, Gottesman GS, McAlister WH, Eric Gordon J, Hollander A, Andrews MV, El-Mofty SK, Chen WS, Veis DV, Stolina M, Woo AS, Katsonis P, Lichtarge O, Zhang F, Shinawi M. Otaify GA, et al. Bone. 2018 Feb;107:161-171. doi: 10.1016/j.bone.2017.11.012. Epub 2017 Nov 21. Bone. 2018. PMID: 29175271 Free PMC article.

2

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S. Whyte MP, et al. Among authors: otaify ga. J Bone Miner Res. 2017 Apr;32(4):757-769. doi: 10.1002/jbmr.3034. Epub 2016 Dec 14. J Bone Miner Res. 2017. PMID: 27862258 Free article.

3

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

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Aglan M, et al. Among authors: otaify ga. Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284319

4

Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS. Abdel-Hamid MS, et al. Among authors: otaify ga. Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4. Clin Genet. 2018. PMID: 28390064

5

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V. Doyard M, et al. Among authors: otaify ga. J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358272

6

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Otaify GA, Abdel-Hamid MS, Mehrez MI, Aboul-Ezz E, Zaki MS, Aglan MS, Temtamy SA. Otaify GA, et al. Osteoporos Int. 2018 Aug;29(8):1833-1841. doi: 10.1007/s00198-018-4555-0. Epub 2018 May 23. Osteoporos Int. 2018. PMID: 29796728

7

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

Abdel-Hamid MS, Elhossini RM, Otaify GA, Abdel-Ghafar SF, Aglan MS. Abdel-Hamid MS, et al. Among authors: otaify ga. Osteoporos Int. 2022 Jul;33(7):1501-1510. doi: 10.1007/s00198-022-06313-1. Epub 2022 Feb 1. Osteoporos Int. 2022. PMID: 35106624

8

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

Otaify GA, Abdel-Hamid MS, Hassib NF, Elhossini RM, Abdel-Ghafar SF, Aglan MS. Otaify GA, et al. Am J Med Genet A. 2022 Jun;188(6):1815-1825. doi: 10.1002/ajmg.a.62718. Epub 2022 Mar 12. Am J Med Genet A. 2022. PMID: 35278031

9

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

Elhossini RM, Ahmed HA, Otaify G, Ghorab RM, Amr K, Aglan M. Elhossini RM, et al. Am J Med Genet A. 2022 Oct;188(10):2861-2868. doi: 10.1002/ajmg.a.62933. Epub 2022 Aug 11. Am J Med Genet A. 2022. PMID: 36097642

10

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Abdel-Hamid MS, Issa MY, Otaify GA, Zaki MS. Abdel-Hamid MS, et al. Among authors: otaify ga. Metab Brain Dis. 2017 Apr;32(2):311-315. doi: 10.1007/s11011-017-9971-x. Epub 2017 Feb 22. Metab Brain Dis. 2017. PMID: 28229379

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