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Items: 17

1.

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D.

Eur J Hum Genet. 2013 Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub 2012 Dec 12.

2.

Update on Kleefstra Syndrome.

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T.

Mol Syndromol. 2012 Apr;2(3-5):202-212. Epub 2012 Jan 24.

3.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T.

Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10.

PMID:
21204793
4.

Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients.

Verhoeven WMA, Kleefstra T, Egger JIM.

Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):536-541. doi: 10.1002/ajmg.b.31015.

PMID:
19642112
5.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR.

Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17.

6.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.

J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4.

PMID:
19264732
7.

The chromosome 9q subtelomere deletion syndrome.

Stewart DR, Kleefstra T.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review.

PMID:
17910072
8.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H.

Am J Hum Genet. 2006 Aug;79(2):370-7. Epub 2006 Jun 13.

9.

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB.

Am J Med Genet A. 2006 Mar 15;140(6):618-23.

PMID:
16470689
10.

The diverse functions of histone lysine methylation.

Martin C, Zhang Y.

Nat Rev Mol Cell Biol. 2005 Nov;6(11):838-49. Review.

PMID:
16261189
11.

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.

Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR.

J Med Genet. 2005 Apr;42(4):328-35. No abstract available.

12.

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.

J Med Genet. 2005 Apr;42(4):299-306.

13.

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID.

Am J Med Genet A. 2004 Aug 1;128A(4):340-51.

PMID:
15264279
14.

Syndromes of disordered chromatin remodeling.

Ausió J, Levin DB, De Amorim GV, Bakker S, Macleod PM.

Clin Genet. 2003 Aug;64(2):83-95. Review.

PMID:
12859401
15.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L.

J Med Genet. 2003 Apr;40(4):300-3. No abstract available.

16.

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features.

Dawson AJ, Putnam S, Schultz J, Riordan D, Prasad C, Greenberg CR, Chodirker BN, Mhanni AA, Chudley AE.

Clin Genet. 2002 Dec;62(6):488-94.

PMID:
12515261
17.

Subtle chromosomal rearrangements in children with unexplained mental retardation.

Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J.

Lancet. 1999 Nov 13;354(9191):1676-81.

PMID:
10568569

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