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Items: 1 to 50 of 93

1.

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Besio R, Garibaldi N, Leoni L, Cipolla L, Sabbioneda S, Biggiogera M, Mottes M, Aglan M, Otaify GA, Temtamy SA, Rossi A, Forlino A.

Dis Model Mech. 2019 Jun 20;12(6). pii: dmm038521. doi: 10.1242/dmm.038521.

2.

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.

Temtamy SA.

Annu Rev Genomics Hum Genet. 2019 Mar 8. doi: 10.1146/annurev-genom-083118-015201. [Epub ahead of print]

PMID:
30848958
3.

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

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, Temtamy SA.

Am J Med Genet A. 2019 Feb;179(2):237-242. doi: 10.1002/ajmg.a.61021. Epub 2018 Dec 21.

PMID:
30575274
4.

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.

Am J Med Genet A. 2018 Nov;176(11):2446-2450. doi: 10.1002/ajmg.a.40479. Epub 2018 Sep 23.

PMID:
30244542
5.

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.

Osteoporos Int. 2018 Aug;29(8):1833-1841. doi: 10.1007/s00198-018-4555-0. Epub 2018 May 23.

PMID:
29796728
6.

Batch bioethanol production via the biological and chemical saccharification of some Egyptian marine macroalgae.

Soliman RM, Younis SA, El-Gendy NS, Mostafa SSM, El-Temtamy SA, Hashim AI.

J Appl Microbiol. 2018 Aug;125(2):422-440. doi: 10.1111/jam.13886. Epub 2018 May 23.

PMID:
29675837
7.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

Gagliardi A, Besio R, Carnemolla C, Landi C, Armini A, Aglan M, Otaify G, Temtamy SA, Forlino A, Bini L, Bianchi L.

J Proteomics. 2017 Sep 7;167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9.

8.

Genetics and Genomic Medicine in Egypt: steady pace.

Temtamy SA, Hussen DF.

Mol Genet Genomic Med. 2017 Jan 17;5(1):8-14. doi: 10.1002/mgg3.271. eCollection 2017 Jan.

9.

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, Hosny H, Omar T, Effat L, Aglan MS, Temtamy SA, Zaki MS.

Metab Brain Dis. 2016 Oct;31(5):1171-9. doi: 10.1007/s11011-016-9861-7. Epub 2016 Jul 7.

PMID:
27389245
10.

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.

Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA.

Genet Couns. 2016;27(3):305-323.

PMID:
30204960
11.

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.

Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18.

PMID:
26284319
12.

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.

Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RA, Temtamy SA.

Osteoporos Int. 2016 Jan;27(1):81-92. doi: 10.1007/s00198-015-3216-9. Epub 2015 Jul 3.

PMID:
26138583
13.

Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum.

Temtamy SA.

Am J Med Genet A. 2014 Jul;164A(7):1867. doi: 10.1002/ajmg.a.36497. Epub 2014 Mar 26. No abstract available.

PMID:
24677810
14.

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.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

15.

A scoring system for the assessment of clinical severity in osteogenesis imperfecta.

Aglan MS, Hosny L, El-Houssini R, Abdelhadi S, Salem F, Elbanna RA, Awad SA, Zaki ME, Temtamy SA.

J Child Orthop. 2012 Mar;6(1):29-35. doi: 10.1007/s11832-012-0385-3. Epub 2012 Feb 8.

16.

Two different Temtamy syndromes.

Temtamy SA.

Clin Dysmorphol. 2013 Apr;22(2):91. doi: 10.1097/MCD.0b013e32835ca069. No abstract available.

PMID:
23221683
17.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE.

J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec.

PMID:
23018678
18.

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta.

Aglan MS, Zaki ME, Hosny L, El-Houssini R, Oteify G, Temtamy SA.

Am J Med Genet A. 2012 Nov;158A(11):2714-8. doi: 10.1002/ajmg.a.35529. Epub 2012 Aug 7.

PMID:
22887991
19.

A report of three patients with MMP2 associated hereditary osteolysis.

Temtamy SA, Ismail S, Aglan MS, Ashour AM, Hosny LA, El-Badry TH, Aboul-Ezz EH, Amr K, Fateen E, Maguire T, Ungerer K, Zankl A.

Genet Couns. 2012;23(2):175-84.

PMID:
22876575
20.
21.

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Abdel-Salam GM, Flores-Sarnat L, El-Ruby MO, Parboosingh J, Bridge P, Eid MM, El-Badry TH, Effat L, Curatolo P, Temtamy SA.

Am J Med Genet A. 2011 Jan;155A(1):207-14. doi: 10.1002/ajmg.a.33777.

PMID:
21204234
22.

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El-Kamah GY, El-Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA.

Bratisl Lek Listy. 2010;111(2):62-9.

PMID:
20429316
23.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B.

Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.

24.
25.

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Aglan MS, Temtamy SA, Fateen E, Ashour AM, Eldeeb K, Hosny GA.

J Child Orthop. 2009 Dec;3(6):451-8. doi: 10.1007/s11832-009-0211-8. Epub 2009 Oct 9.

26.

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.

Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.

27.

Brachydactyly.

Temtamy SA, Aglan MS.

Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Review.

28.

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778.

PMID:
18454448
29.

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Temtamy SA, Aglan MS, Ashour AM, Zaki MS.

Clin Dysmorphol. 2007 Jul;16(3):141-9.

PMID:
17551326
30.

Phenotypic and cytogenetic spectrum of 9p trisomy.

Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM.

Genet Couns. 2007;18(1):29-48.

PMID:
17515299
31.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
32.

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.

Am J Med Genet A. 2006 Jun 1;140(11):1189-95.

PMID:
16637051
33.

3-M syndrome: a report of three Egyptian cases with review of the literature.

Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI.

Clin Dysmorphol. 2006 Apr;15(2):55-64. Review.

PMID:
16531729
34.

Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?

Temtamy SA.

Clin Dysmorphol. 2005 Oct;14(4):211. No abstract available.

PMID:
16155426
35.

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.

Genet Couns. 2005;16(1):75-83.

PMID:
15844783
36.

Expanding the phenotypic spectrum of the Baller-Gerold syndrome.

Temtamy SA, Aglan MS, Nemat A, Eid M.

Genet Couns. 2003;14(3):299-312. Review.

PMID:
14577674
37.

Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.

Temtamy SA, Ismail S, Nemat A.

Clin Dysmorphol. 2003 Apr;12(2):77-83.

PMID:
12868467
39.

Transposition of external genitalia and associated malformations.

Meguid NA, Temtamy SA, Mazen I.

Clin Dysmorphol. 2003 Jan;12(1):59-62. Erratum in: Clin Dysmorphol. 2003 Apr;12(2):152.

PMID:
12514368
40.

Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

Temtamy SA, Ismail SI, Meguid NA.

Genet Couns. 2000;11(2):147-52.

PMID:
10893665
41.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS.

Nat Genet. 1999 Dec;23(4):421-4.

PMID:
10581027
42.

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

Effat L, Kuzmin A, Kasem N, Meguid NA, Kotb S, Eisensmith RC, Temtamy SA, Rushdi S, Woo S, el-Awady M.

Eur J Hum Genet. 1999 Feb-Mar;7(2):259-62.

43.
44.

GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.

Meguid NA, Afifi HH, Ramzy MI, Hindawy A, Temtamy SA.

Clin Genet. 1997 Aug;52(2):110-5.

PMID:
9298746
45.

Molecular analysis of androgen resistance syndromes in Egyptian patients.

Essawi M, Gad YZ, el-Rouby O, Temtamy SA, Sabour YA, el-Awady MK.

Dis Markers. 1997 Apr;13(2):99-105.

PMID:
9160185
46.

Identification of Mediterranean beta-thalassemia mutations by reverse dot-blot in Italians and Egyptians.

Rady MS, Baffico M, Khalifa AS, Heshmat NM, el-Moselhy S, Sciarratta GV, Hussein IR, Temtamy SA, Romeo G.

Hemoglobin. 1997 Jan;21(1):59-69.

PMID:
9028824
47.

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

Marafie MJ, Temtamy SA, Rajaram U, al-Awadi SA, el-Badramany MH, Farag TI.

Am J Med Genet. 1996 Dec 18;66(3):261-4.

PMID:
8985483
48.

COFS syndrome with familial 1;16 translocation.

Temtamy SA, Meguid NA, Mahmoud A, Afifi HH, Gerzawy A, Zaki MS.

Clin Genet. 1996 Oct;50(4):240-3.

PMID:
9001808
49.
50.

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt.

Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH.

Clin Genet. 1994 Nov;46(5):347-51.

PMID:
7889643

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