Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

Kleefstra Syndrome.

Kleefstra T, Nillesen WM, Yntema HG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Oct 5 [updated 2015 May 7].

2.

KANSL1-Related Intellectual Disability Syndrome.

Koolen DA, de Vries BBA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Jan 26 [updated 2013 Jan 10].

3.

2q37 Microdeletion Syndrome.

Doherty ES, Lacbawan FL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 May 3 [updated 2013 Jan 31].

4.

9q22.3 Microdeletion.

Muller E II, Hudgins L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Aug 18 [updated 2014 Feb 20].

5.

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.

Campbell CL, Collins RT 2nd, Zarate YA.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):985-90. doi: 10.1002/bdra.23324. Epub 2014 Nov 7.

PMID:
25380126
6.

Smith-Magenis Syndrome.

Smith ACM, Boyd KE, Elsea SH, Finucane BM, Haas-Givler B, Gropman A, Laje G, Magenis E, Potocki L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Oct 22 [updated 2012 Jun 28].

7.

CASK-Related Disorders.

Moog U, Uyanik G, Kutsche K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Nov 26.

8.

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
9.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.

J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5.

10.

DYRK1A-Related Intellectual Disability Syndrome.

van Bon BWM, Coe BP, de Vries BBA, Eichler EE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Dec 17.

11.

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S.

Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014.

12.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jan 22 [updated 2012 Aug 23].

13.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 7 [updated 2018 Feb 22].

14.

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.

15.

SATB2-Associated Syndrome.

Zarate YA, Kaylor J, Fish J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Oct 12.

16.

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.

de Boer A, Vermeulen K, Egger JIM, Janzing JGE, de Leeuw N, Veenstra-Knol HE, den Hollander NS, van Bokhoven H, Staal W, Kleefstra T.

Mol Autism. 2018 Jan 25;9:5. doi: 10.1186/s13229-018-0193-9. eCollection 2018.

17.

Beta-Propeller Protein-Associated Neurodegeneration.

Gregory A, Kurian MA, Haack T, Hayflick SJ, Hogarth P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Feb 16.

18.

15q24 Microdeletion Syndrome.

Mefford H, Shur N, Rosenfeld J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Feb 23.

19.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

20.

PIK3CA-Related Segmental Overgrowth.

Mirzaa G, Conway R, Graham JM Jr, Dobyns WB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 15.

Supplemental Content

Support Center