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Items: 18

1.

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.

2.

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
3.

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
4.

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.

5.

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
6.

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
7.

A familial case of Cantu craniofaciofronto digital syndrome.

Garcia-Gonzalez CL, Garcia-Cruz D, Garcia-Cruz MO, Castañeda-Cisneros G, Garcia-Ortiz JE, Orozco-Gutiérrez MH, Sanchez-Corona J.

Clin Dysmorphol. 2012 Jul;21(3):162-6. doi: 10.1097/MCD.0b013e328353a082. No abstract available.

PMID:
22504422
8.
9.

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
10.

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
11.

Cantu syndrome.

Herman TE, McAlister WH.

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

PMID:
15735970
12.

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
13.

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
14.

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
15.

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
16.

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
17.

[Fragoso-Cantù syndrome. Description of a neonatal case].

Chinca M, Sabatini Scalmati R, Buglioni MC.

Minerva Pediatr. 1992 Jul-Aug;44(7-8):365-9. Italian.

PMID:
1406511
18.

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

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