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Results: 17

Select item 235382761.

KATP channels and cardiovascular disease: suddenly a syndrome.

Nichols CG, Singh GK, Grange DK.

Circ Res. 2013 Mar 29;112(7):1059-72. doi: 10.1161/CIRCRESAHA.112.300514. Review.

PMID:: 23538276; [PubMed - indexed for MEDLINE]

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Select item 226101162.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:: 22610116; [PubMed - indexed for MEDLINE]

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Select item 226085033.

Cantú syndrome is caused by mutations in ABCC9.

van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.

Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.

PMID:: 22608503; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 223109624.

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.

Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.

PMID:: 22310962; [PubMed - indexed for MEDLINE]

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Select item 214656525.

Short-term follow-up of a Brazilian patient with Cantú syndrome.

Graziadio C, Rosa RF, Rosa RC, Zen PR, Flores JA, Paskulin GA.

Am J Med Genet A. 2011 May;155A(5):1184-8. doi: 10.1002/ajmg.a.33904. Epub 2011 Apr 4. No abstract available.

PMID:: 21465652; [PubMed - indexed for MEDLINE]

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Select item 213446416.

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S.

Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885. Epub 2011 Feb 22.

PMID:: 21344641; [PubMed - indexed for MEDLINE]

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Select item 208901807.

Cantu syndrome and lymphoedema.

García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PK, Ramirez-Garcia S, Sanchez-Corona J.

Clin Dysmorphol. 2011 Jan;20(1):32-7. doi: 10.1097/MCD.0b013e32833d015c.

PMID:: 20890180; [PubMed - indexed for MEDLINE]

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Select item 205751028.

Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome.

Kobayashi D, Cook AL, Williams DA.

Pediatr Pulmonol. 2010 Jul;45(7):727-9. doi: 10.1002/ppul.21215.

PMID:: 20575102; [PubMed - indexed for MEDLINE]

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Select item 190765929.

Anesthetic experience in a patient with Cantú syndrome.

O'Brien JJ, Ririe DG.

Paediatr Anaesth. 2008 Dec;18(12):1255-7. doi: 10.1111/j.1460-9592.2008.02760.x. No abstract available.

PMID:: 19076592; [PubMed - indexed for MEDLINE]

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Select item 1683593210.

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

Grange DK, Lorch SM, Cole PL, Singh GK.

Am J Med Genet A. 2006 Aug 1;140(15):1673-80.

PMID:: 16835932; [PubMed - indexed for MEDLINE]

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Select item 1627890311.

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R.

Am J Med Genet A. 2005 Dec 15;139(3):216-20.

PMID:: 16278903; [PubMed - indexed for MEDLINE]

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Select item 1573597012.

Cantu syndrome.

Herman TE, McAlister WH.

Pediatr Radiol. 2005 May;35(5):550-1. Epub 2005 Feb 27. No abstract available.

PMID:: 15735970; [PubMed - indexed for MEDLINE]

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Select item 1221035213.

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H.

Am J Med Genet. 2002 Aug 1;111(2):205-9. Review.

PMID:: 12210352; [PubMed - indexed for MEDLINE]

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Select item 1105063014.

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-Dueñas M.

Am J Med Genet. 2000 Oct 23;94(5):421-7. Review.

PMID:: 11050630; [PubMed - indexed for MEDLINE]

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Select item 1081765315.

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

Concolino D, Formicola S, Camera G, Strisciuglio P.

Am J Med Genet. 2000 May 29;92(3):191-4.

PMID:: 10817653; [PubMed - indexed for MEDLINE]

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Select item 1039826716.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A.

Am J Med Genet. 1999 Aug 6;85(4):395-402.

PMID:: 10398267; [PubMed - indexed for MEDLINE]

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Select item 957127617.

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

Rosser EM, Kaariainen H, Hurst JA, Baraitser M, Hall CM, Clayton P, Leonard JV.

Clin Dysmorphol. 1998 Apr;7(2):79-85. Review.

PMID:: 9571276; [PubMed - indexed for MEDLINE]

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1 free full-text article in PubMed Central

Cantú syndrome is caused by mutations in ABCC9. [Am J Hum Genet. 2012]
Cantú syndrome is caused by mutations in ABCC9.
van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, et al. Am J Hum Genet. 2012 Jun 8; 90(6):1094-101. Epub 2012 May 17.