Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

337 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Grotto S, et al. Among authors: van bokhoven h. Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462886
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Among authors: van de pol tj, van ommen gj, van bokhoven h. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: van der burgt i, van roosmalen t, van bokhoven h, van den helm b. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Bienvenu T, et al. Among authors: van bokhoven h. Am J Med Genet. 2000 Aug 14;93(4):294-8. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10946356
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: van roosmalen t, van bokhoven h. Am J Med Genet. 2002 Jul 1;110(3):243-7. doi: 10.1002/ajmg.10446. Am J Med Genet. 2002. PMID: 12116232
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. Among authors: van esch h, van bokhoven h. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. Among authors: van bokhoven h, van den elzen c. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.
337 results