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Page 1
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: abou jamra r. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 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
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B. Brechet A, et al. Among authors: abou jamra r. Nat Commun. 2017 Jul 4;8:15910. doi: 10.1038/ncomms15910. Nat Commun. 2017. PMID: 28675162 Free PMC article.
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 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
Samtig-weiche hyperelastische Haut bei einem jungen Patienten.
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_g. J Dtsch Dermatol Ges. 2018. PMID: 29645379 No abstract available.
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.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
125 results