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Results: 1 to 20 of 42

Select item 225709791.

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

García RJ, Kant SG, Wit JM, Mericq V.

J Pediatr Endocrinol Metab. 2012;25(1-2):207-12.

PMID:: 22570979; [PubMed - indexed for MEDLINE]

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Select item 222650152.

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.

PMID:: 22265015; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 222636873.

Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome.

Pouliquen D, Goldenberg A, Hannequin D, Lecointre C, Lechevallier J, Cormier-Daire V, Martinaud O.

J Clin Exp Neuropsychol. 2012;34(5):445-52. doi: 10.1080/13803395.2011.646958. Epub 2012 Jan 23.

PMID:: 22263687; [PubMed - indexed for MEDLINE]

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Select item 222470664.

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L.

Am J Med Genet A. 2012 Feb;158A(2):333-9. doi: 10.1002/ajmg.a.34401. Epub 2012 Jan 13.

PMID:: 22247066; [PubMed - indexed for MEDLINE]

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Select item 220011355.

Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

Galli-Tsinopoulou A, Kyrgios I, Emmanouilidou E, Maggana I, Kotanidou E, Kokka P, Stylianou C.

Hormones (Athens). 2011 Jul-Sep;10(3):236-40.

PMID:: 22001135; [PubMed - indexed for MEDLINE]

Free Article

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Select item 219555426.

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Héron D.

Clin Dysmorphol. 2012 Jan;21(1):11-4. doi: 10.1097/MCD.0b013e32834af5a7.

PMID:: 21955542; [PubMed - indexed for MEDLINE]

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Select item 203585907.

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; [PubMed - indexed for MEDLINE]

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Select item 203585898.

Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues.

Carey JC.

Am J Med Genet A. 2010 Apr;152A(4):819-20. doi: 10.1002/ajmg.a.33324. No abstract available.

PMID:: 20358589; [PubMed - indexed for MEDLINE]

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Select item 201851469.

Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study.

Angelillo N, Di Costanzo B, Barillari U.

J Commun Disord. 2010 May-Jun;43(3):252-60. doi: 10.1016/j.jcomdis.2010.01.001. Epub 2010 Jan 20.

PMID:: 20185146; [PubMed - indexed for MEDLINE]

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Select item 2001412310.

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; [PubMed - indexed for MEDLINE]

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Select item 1976402211.

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; [PubMed - indexed for MEDLINE]

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Select item 1939352412.

Ocular abnormalities in Floating-Harbor syndrome.

Asseidat I, Kaufman LM.

J AAPOS. 2009 Apr;13(2):218-20. doi: 10.1016/j.jaapos.2008.11.002.

PMID:: 19393524; [PubMed - indexed for MEDLINE]

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Select item 1897866113.

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; [PubMed - indexed for MEDLINE]

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Select item 1844914114.

Floating-Harbor syndrome: case report.

Genc G, Sarac A, Erkek Atay N, Kulali F.

Minerva Pediatr. 2008 Apr;60(2):249-51.

PMID:: 18449141; [PubMed - indexed for MEDLINE]

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Select item 1834109415.

Precocious puberty in a girl with floating-harbor syndrome.

Stagi S, Galluzzi F, Bindi G, Lapi E, Cecchi C, Salti R, Chiarelli F.

J Pediatr Endocrinol Metab. 2007 Dec;20(12):1333-7.

PMID:: 18341094; [PubMed - indexed for MEDLINE]

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Select item 1795578216.

Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review.

Bastaki L, El-Nabi MM, Azab AS, Gouda SA, Al-Wadaani AM, Naguib KK.

East Mediterr Health J. 2007 Jul-Aug;13(4):975-9. Review. No abstract available.

PMID:: 17955782; [PubMed - indexed for MEDLINE]

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Select item 1737553517.

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; [PubMed - indexed for MEDLINE]

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Select item 1652351418.

Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

Feingold M.

Am J Med Genet A. 2006 Apr 1;140(7):782-4.

PMID:: 16523514; [PubMed - indexed for MEDLINE]

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Select item 1588941619.

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; [PubMed - indexed for MEDLINE]

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Select item 1537853620.

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; [PubMed - indexed for MEDLINE]

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2 free full-text articles in PubMed Central

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [Am J Hum Genet. 2012]
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, et al. Am J Hum Genet. 2012 Feb 10; 90(2):308-13. Epub 2012 Jan 19.
Floating-Harbor syndrome. [J Med Genet. 1991]
Floating-Harbor syndrome.
Patton MA, Hurst J, Donnai D, McKeown CM, Cole T, Goodship J. J Med Genet. 1991 Mar; 28(3):201-4.