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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: jamra ra. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955 Free article.
Mood-incongruent psychosis in bipolar disorder: conditional linkage analysis shows genome-wide suggestive linkage at 1q32.3, 7p13 and 20q13.31.
Hamshere ML, Schulze TG, Schumacher J, Corvin A, Owen MJ, Jamra RA, Propping P, Maier W, Orozco y Diaz G, Mayoral F, Rivas F, Jones I, Jones L, Kirov G, Gill M, Holmans PA, Nöthen MM, Cichon S, Rietschel M, Craddock N. Hamshere ML, et al. Among authors: jamra ra. Bipolar Disord. 2009 Sep;11(6):610-20. doi: 10.1111/j.1399-5618.2009.00736.x. Bipolar Disord. 2009. PMID: 19689503
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.
Brockschmidt FF, Heilmann S, Ellis JA, Eigelshoven S, Hanneken S, Herold C, Moebus S, Alblas MA, Lippke B, Kluck N, Priebe L, Degenhardt FA, Jamra RA, Meesters C, Jöckel KH, Erbel R, Harrap S, Schumacher J, Fröhlich H, Kruse R, Hillmer AM, Becker T, Nöthen MM. Brockschmidt FF, et al. Among authors: jamra ra. Br J Dermatol. 2011 Dec;165(6):1293-302. doi: 10.1111/j.1365-2133.2011.10708.x. Br J Dermatol. 2011. PMID: 22032556
Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples.
Grigoroiu-Serbanescu M, Herms S, Mühleisen TW, Georgi A, Diaconu CC, Strohmaier J, Czerski P, Hauser J, Leszczynska-Rodziewicz A, Jamra RA, Babadjanova G, Tiganov A, Krasnov V, Kapiletti S, Neagu AI, Vollmer J, Breuer R, Rietschel M, Nöthen MM, Cichon S, Propping P, Nöthen MM, Cichon S. Grigoroiu-Serbanescu M, et al. Among authors: jamra ra. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):1017-21. doi: 10.1002/ajmg.b.30952. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19330776
NDST1 missense mutations in autosomal recessive intellectual disability.
Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K. Reuter MS, et al. Among authors: jamra ra. Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25125150
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
86 results