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

Year Number of Results
1976 3
1977 1
1979 2
1980 1
1983 8
1985 4
1986 3
1987 6
1988 4
1989 4
1990 2
1991 2
1992 1
1993 2
1994 1
1995 4
1996 5
1997 6
1998 6
1999 7
2000 12
2001 8
2002 6
2003 5
2004 3
2005 8
2006 8
2007 12
2008 9
2009 11
2010 11
2011 8
2012 6
2013 5
2014 7
2015 13
2016 6
2017 2
2018 3
2019 4
2020 2
2024 0

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196 results

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Page 1
Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. Hu H, et al. Among authors: wienker tf. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302074
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: wienker tf. 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.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: wienker tf. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
VarWatch-A stand-alone software tool for variant matching.
Fredrich B, Schmöhl M, Junge O, Gundlach S, Ellinghaus D, Pfeufer A, Bettecken T, Siddiqui R, Franke A, Wienker TF, Hoeppner MP, Krawczak M. Fredrich B, et al. Among authors: wienker tf. PLoS One. 2019 Apr 25;14(4):e0215618. doi: 10.1371/journal.pone.0215618. eCollection 2019. PLoS One. 2019. PMID: 31022234 Free PMC article.
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hübner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hübner C, Kaindl AM. Ravindran E, et al. Among authors: wienker tf. PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28453519 Free PMC article.
Familial aggregation of alopecia areata.
Blaumeiser B, van der Goot I, Fimmers R, Hanneken S, Ritzmann S, Seymons K, Betz RC, Ruzicka T, Wienker TF, De Weert J, Lambert J, Kruse R, Nöthen MM. Blaumeiser B, et al. Among authors: wienker tf. J Am Acad Dermatol. 2006 Apr;54(4):627-32. doi: 10.1016/j.jaad.2005.12.007. Epub 2006 Jan 23. J Am Acad Dermatol. 2006. PMID: 16546583
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S. Maass PG, et al. Among authors: wienker tf. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11. Nat Genet. 2015. PMID: 25961942 Free article.
196 results