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Items: 1 to 20 of 30

1.

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.

Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.

PMID:
22965468
2.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

3.

The phenotype of Floating-Harbor syndrome in 10 patients.

White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA.

Am J Med Genet A. 2010 Apr;152A(4):821-9. doi: 10.1002/ajmg.a.33294.

PMID:
20358590
4.

Floating-Harbor syndrome associated with middle ear abnormalities.

Hendrickx JJ, Keymolen K, Desprechins B, Casselman J, Gordts F.

Am J Med Genet A. 2010 Jan;152A(1):161-4. doi: 10.1002/ajmg.a.33033.

PMID:
20014123
5.

Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.

Nelson RA, McNamara M, Ellis W, Stein-Wexler R, Moghaddam B, Zwerdling T.

Am J Med Genet A. 2009 Oct;149A(10):2265-9. doi: 10.1002/ajmg.a.33014. Review.

PMID:
19764022
6.

Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome.

Paluzzi A, Viva LJ, Kalsi P, Mukerji N, Tzerakis N, Patton MA.

Clin Dysmorphol. 2008 Oct;17(4):283-5. doi: 10.1097/MCD.0b013e328306a38d. No abstract available.

PMID:
18978661
7.

The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters.

Wong MM, Cox LK, Chrivia JC.

J Biol Chem. 2007 Sep 7;282(36):26132-9. Epub 2007 Jul 8.

8.

Floating-Harbor syndrome: a first female Turkish patient?

Karaer K, Karaoguz MY, Ergun MA, Yesilkaya E, Bideci A, Percin EF.

Genet Couns. 2006;17(4):465-8. No abstract available.

PMID:
17375535
9.
10.
11.

Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy.

Wiltshire E, Wickremesekera A, Dixon J.

Am J Med Genet A. 2005 Jul 1;136(1):81-3.

PMID:
15889416
12.

The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years.

Ala-Mello S, Peippo M.

Am J Med Genet A. 2004 Oct 15;130A(3):317-9.

PMID:
15378536
13.
14.

SNF2-related CBP activator protein (SRCAP) functions as a coactivator of steroid receptor-mediated transcription through synergistic interactions with CARM-1 and GRIP-1.

Monroy MA, Schott NM, Cox L, Chen JD, Ruh M, Chrivia JC.

Mol Endocrinol. 2003 Dec;17(12):2519-28. Epub 2003 Sep 18.

PMID:
14500758
15.

Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.

Wieczorek D, Wüsthof A, Harms E, Meinecke P.

Am J Med Genet. 2001 Nov 15;104(1):47-52.

PMID:
11746027
16.

Adenovirus DNA binding protein interacts with the SNF2-related CBP activator protein (SrCap) and inhibits SrCap-mediated transcription.

Xu X, Chackalaparampil I, Monroy MA, Cannella MT, Pesek E, Chrivia J, Yaciuk P.

J Virol. 2001 Nov;75(21):10033-40.

17.

Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein.

Johnston H, Kneer J, Chackalaparampil I, Yaciuk P, Chrivia J.

J Biol Chem. 1999 Jun 4;274(23):16370-6.

18.

Changing phenotype in Floating-Harbor syndrome.

Hersh JH, Groom KR, Yen FF, Verdi GD.

Am J Med Genet. 1998 Feb 26;76(1):58-61. Review.

PMID:
9508066
19.

Floating Harbor syndrome. Case report and further syndrome delineation.

Midro AT, Olchowik B, Rogowska M, Hubert E, Hassman-Poznańska E, Papasz A, Szulc S, Wiśniewski A.

Ann Genet. 1997;40(3):133-8.

PMID:
9401100
20.

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.

DNA Res. 1997 Apr 28;4(2):141-50.

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