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427 results

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Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R. Lesch KP, et al. Among authors: ropers hh. Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23. Mol Psychiatry. 2011. PMID: 20308990
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. Erdogan F, et al. Among authors: ropers hh. J Med Genet. 2008 Nov;45(11):704-9. doi: 10.1136/jmg.2008.058776. Epub 2008 Aug 19. J Med Genet. 2008. PMID: 18713793
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: ropers hh. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
A complex phenotype with cystic renal disease.
Müller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R. Müller D, et al. Among authors: ropers hh. Kidney Int. 2006 Nov;70(9):1656-60. doi: 10.1038/sj.ki.5001746. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912708 Free article. No abstract available.
Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
Tzschach A, Ramel C, Kron A, Seipel B, Wüster C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R, Kalscheuer V, Decker J, Steinberger D. Tzschach A, et al. Among authors: ropers hh. Int J Androl. 2009 Jun;32(3):226-30. doi: 10.1111/j.1365-2605.2007.00839.x. Epub 2007 Nov 27. Int J Androl. 2009. PMID: 18042180
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study; Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: ropers hh. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.
4q35 deletion and 10p15 duplication associated with immunodeficiency.
Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. Cingoz S, et al. Among authors: ropers hh. Am J Med Genet A. 2006 Oct 15;140(20):2231-5. doi: 10.1002/ajmg.a.31431. Am J Med Genet A. 2006. PMID: 16964622
427 results