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Page 1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: abou jamra r. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
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
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.
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
European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset.
Mathieu F, Dizier MH, Etain B, Jamain S, Rietschel M, Maier W, Albus M, McKeon P, Roche S, Blackwood D, Muir WJ, Henry C, Malafosse A, Preisig M, Ferrero F, Cichon S, Schumacher J, Ohlraun S, Propping P, Abou Jamra R, Schulze TG, Zelenica D, Charon C, Marusic A, Dernovsek MC, Gurling H, Nöthen M, Lathrop M, Leboyer M, Bellivier F. Mathieu F, et al. Among authors: abou jamra r. Am J Med Genet B Neuropsychiatr Genet. 2010 Dec 5;153B(8):1425-33. doi: 10.1002/ajmg.b.31121. Epub 2010 Sep 30. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20886542 Free 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
Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
Investigation of the DAOA/G30 locus in panic disorder.
Schumacher J, Abou Jamra R, Becker T, Klopp N, Franke P, Jacob C, Sand P, Fritze J, Ohlraun S, Schulze TG, Rietschel M, Illig T, Propping P, Cichon S, Deckert J, Nöthen MM. Schumacher J, et al. Among authors: abou jamra r. Mol Psychiatry. 2005 May;10(5):428-9. doi: 10.1038/sj.mp.4001598. Mol Psychiatry. 2005. PMID: 15477870 Clinical Trial. No abstract available.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R. Buchert R, et al. Among authors: abou jamra r. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439727 Free PMC article.
119 results