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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 2
1969 1
1970 1
1971 1
1974 11
1975 9
1976 2
1977 1
1978 1
1980 1
1981 1
1982 3
1984 1
1986 1
1987 1
1988 2
1989 1
1990 1
1991 2
1992 1
1993 1
1994 3
1995 2
1996 4
1997 3
1998 1
1999 3
2000 1
2003 4
2004 1
2005 2
2006 3
2007 3
2008 2
2009 3
2010 5
2011 4
2012 7
2013 6
2014 4
2015 4
2016 4
2017 4
2018 7
2019 7
2020 5
2021 7
2022 1
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Search Results

137 results
Results by year
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Page 1
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Shaheen R, et al. Among authors: temtamy s. Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214071 Free PMC article.
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Among authors: temtamy s. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: temtamy s. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
Brachydactyly.
Temtamy SA, Aglan MS. Temtamy SA, et al. Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Orphanet J Rare Dis. 2008. PMID: 18554391 Free PMC article. Review.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: temtamy sa. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
Two different Temtamy syndromes.
Temtamy SA. Temtamy SA. Clin Dysmorphol. 2013 Apr;22(2):91. doi: 10.1097/MCD.0b013e32835ca069. Clin Dysmorphol. 2013. PMID: 23221683 No abstract available.
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B. Li Y, et al. Among authors: temtamy s. Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003. Am J Hum Genet. 2010. PMID: 21129728 Free PMC article.
137 results