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118 results

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Page 1
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: abou jamra r. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
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.
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q.
McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly MJ, Depaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo SH, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, Mackinnon JD, McInnis MG, McMahon FJ, Murphy DL, Nothen MM, Nurnberger JI, Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Rietschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi PP, Laird NM. McQueen MB, et al. Among authors: abou jamra r. Am J Hum Genet. 2005 Oct;77(4):582-95. doi: 10.1086/491603. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175504 Free PMC article.
A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder.
Abou Jamra R, Schulze TG, Becker T, Brockschmidt FF, Green E, Alblas MA, Wendland JR, Adli M, Grozeva D, Strohmeier J, Georgi A, Craddock N, Propping P, Rietschel M, Nöthen MM, Cichon S, Schumacher J. Abou Jamra R, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):878-84. doi: 10.1002/ajmg.b.31051. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19927306
A comprehensive global genotype-phenotype database for rare diseases.
Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A. Trujillano D, et al. Among authors: abou jamra r. Mol Genet Genomic Med. 2016 Nov 23;5(1):66-75. doi: 10.1002/mgg3.262. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116331 Free PMC article.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G. Renner S, et al. Among authors: abou jamra r. Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24. Genet Med. 2019. PMID: 30675029 Free 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.
118 results