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Page 1
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: abou jamra r. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.
Ahmadi M, Herting A, Mueffelmann B, Woermann FG, Abou Jamra R, Bien CG, Polster T, Brandt C. Ahmadi M, et al. Among authors: abou jamra r. Epilepsy Behav. 2022 Jan;126:108479. doi: 10.1016/j.yebeh.2021.108479. Epub 2021 Dec 16. Epilepsy Behav. 2022. PMID: 34922328
Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia.
Jönsson EG, Cichon S, Schumacher J, Abou Jamra R, Schulze TG, Deschner M, Forslund K, Hall H, Propping P, Czerski PM, Dmitrak-Weglarz M, Kapelski P, Driessen M, Maier W, Hauser J, Rietschel M, Nöthen MM. Jönsson EG, et al. Among authors: abou jamra r. Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):71-5. doi: 10.1002/ajmg.b.30262. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16342282
Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14.
Etain B, Mathieu F, Rietschel M, Maier W, Albus M, McKeon P, Roche S, Kealey C, Blackwood D, Muir W, Bellivier F, Henry C, Dina C, Gallina S, Gurling H, Malafosse A, Preisig M, Ferrero F, Cichon S, Schumacher J, Ohlraun S, Borrmann-Hassenbach M, Propping P, Abou Jamra R, Schulze TG, Marusic A, Dernovsek ZM, Giros B, Bourgeron T, Lemainque A, Bacq D, Betard C, Charon C, Nöthen MM, Lathrop M, Leboyer M. Etain B, et al. Among authors: abou jamra r. Mol Psychiatry. 2006 Jul;11(7):685-94. doi: 10.1038/sj.mp.4001815. Epub 2006 Mar 14. Mol Psychiatry. 2006. PMID: 16534504 Free PMC article.
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.
Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, Schulze TG, Cichon S, Rietschel M, Nöthen MM, Georgi A, Schumacher J, Schwarz M, Abou Jamra R, Höfels S, Propping P, Satagopan J, Detera-Wadleigh SD, Hardy J, McMahon FJ. Baum AE, et al. Among authors: abou jamra r. Mol Psychiatry. 2008 Feb;13(2):197-207. doi: 10.1038/sj.mp.4002012. Epub 2007 May 8. Mol Psychiatry. 2008. PMID: 17486107 Free PMC article.
A family-based and case-control association study of trace amine receptor genes on chromosome 6q23 in bipolar affective disorder.
Abou Jamra R, Sircar I, Becker T, Freudenberg-Hua Y, Ohlraun S, Freudenberg J, Brockschmidt F, Schulze TG, Gross M, Spira F, Deschner M, Schmäl C, Maier W, Propping P, Rietschel M, Cichon S, Nöthen MM, Schumacher J. Abou Jamra R, et al. Mol Psychiatry. 2005 Jul;10(7):618-20. doi: 10.1038/sj.mp.4001665. Mol Psychiatry. 2005. PMID: 15852064 No abstract available.
Smooth velvety hyperextensible skin in a young patient.
Kratzsch J, Abou Jamra R, Ziemer M, Simon JC, Treudler R. Kratzsch J, et al. Among authors: abou jamra r. J Dtsch Dermatol Ges. 2018 Apr;16(4):504-507. doi: 10.1111/ddg.13480. Epub 2018 Mar 26. J Dtsch Dermatol Ges. 2018. PMID: 29578302 No abstract available.
No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia.
Jönsson EG, Abou Jamra R, Schumacher J, Flyckt L, Edman G, Forslund K, Mattila-Evenden M, Rylander G, Asberg M, Bjerkenstedt L, Wiesel FA, Propping P, Cichon S, Nöthen MM, Sedvall GC. Jönsson EG, et al. Among authors: abou jamra r. Psychiatr Genet. 2003 Sep;13(3):175-8. doi: 10.1097/00041444-200309000-00007. Psychiatr Genet. 2003. PMID: 12960750
117 results