Ben-Omran T - Search Results

1

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. Irving M, et al. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. Orphanet J Rare Dis. 2023. PMID: 37501185 Free PMC article.

2

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T. Musa S, et al. JIMD Rep. 2019;43:79-83. doi: 10.1007/8904_2018_107. Epub 2018 May 3. JIMD Rep. 2019. PMID: 29721912 Free PMC article.

3

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Tărlungeanu DC, et al. Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013. Cell. 2016. PMID: 27912058 Free PMC article.

4

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ. Gallego-Villar L, et al. J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. J Inherit Metab Dis. 2017. PMID: 28643139 Free PMC article. Review.

5

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV. Reis LM, et al. Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016. Mol Vis. 2016. PMID: 27777502 Free PMC article.

6

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression.

Kolomietz E, Ben-Omran T, Chitayat D, Mah M, Murphy J, Nie G, Teshima I. Kolomietz E, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):214-9. doi: 10.1002/ajmg.b.30297. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16526031

7

Structural central nervous system (CNS) anomalies in Kabuki syndrome.

Ben-Omran T, Teebi AS. Ben-Omran T, et al. Am J Med Genet A. 2005 Aug 15;137(1):100-3. doi: 10.1002/ajmg.a.30842. Am J Med Genet A. 2005. PMID: 16007616 No abstract available.

8

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Ben-Omran TI, et al. Am J Med Genet A. 2005 Sep 1;137A(3):283-7. doi: 10.1002/ajmg.a.30869. Am J Med Genet A. 2005. PMID: 16088910

9

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Novarino G, et al. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. Science. 2012. PMID: 22956686 Free PMC article.

10

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Renkema GH, Wortmann SB, Smeets RJ, Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ, Smeitink JA, Rodenburg RJ. Renkema GH, et al. Eur J Hum Genet. 2015 Feb;23(2):202-9. doi: 10.1038/ejhg.2014.80. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781757 Free PMC article.

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