Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

139 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: temtamy s. 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
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL. Martínez-Glez V, et al. Among authors: temtamy s. Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30. Hum Mutat. 2012. PMID: 22052668 Free PMC article.
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Among authors: temtamy s. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M. Caparrós-Martin JA, et al. Among authors: temtamy s. Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613367
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL. Caparros-Martin JA, et al. Among authors: temtamy s. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116328 Free PMC article.
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Khairat R, Elhossini R, Sobreira N, Wohler E, Otaify G, Mohamed AM, Abdel Raouf ER, Sayed I, Aglan M, Ismail S, Temtamy SA. Khairat R, et al. Among authors: temtamy sa. Eur J Med Genet. 2022 Jan;65(1):104377. doi: 10.1016/j.ejmg.2021.104377. Epub 2021 Nov 5. Eur J Med Genet. 2022. PMID: 34748996
Mutations in WNT1 cause different forms of bone fragility.
Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Keupp K, et al. Among authors: temtamy s. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499309 Free PMC article.
139 results