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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1981 7
1982 2
1983 2
1984 8
1985 2
1986 6
1987 4
1988 4
1989 5
1990 4
1991 7
1992 4
1993 6
1994 5
1995 6
1996 4
1997 6
1998 7
1999 6
2000 3
2001 2
2002 10
2003 2
2004 3
2005 6
2006 5
2007 4
2008 4
2009 5
2010 9
2011 8
2012 3
2013 4
2014 6
2015 7
2016 4
2017 2
2018 2
2019 8
2020 2
2023 2
2024 1

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186 results

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Page 1
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: anneren g. 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.
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML. Johansson J, et al. Among authors: anneren g. Eur J Hum Genet. 2024 Mar;32(3):333-341. doi: 10.1038/s41431-023-01392-y. Epub 2023 Jun 5. Eur J Hum Genet. 2024. PMID: 37277488 Free PMC article.
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME. Wang P, et al. Among authors: anneren g. Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Eur J Med Genet. 2013. PMID: 23727450 Review.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Becker K, et al. Among authors: anneren g. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.
Increased neonatal thyrotropin in Down syndrome.
Myrelid A, Jonsson B, Guthenberg C, von Döbeln U, Annerén G, Gustafsson J. Myrelid A, et al. Among authors: anneren g. Acta Paediatr. 2009 Jun;98(6):1010-3. doi: 10.1111/j.1651-2227.2009.01245.x. Epub 2009 Mar 16. Acta Paediatr. 2009. PMID: 19239410
186 results