Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 89

1.

A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension.

Park JY, Koo SH, Jung YJ, Lim YJ, Chung ML.

Am J Med Genet A. 2014 Aug;164A(8):2118-20. doi: 10.1002/ajmg.a.36563. Epub 2014 Apr 8. No abstract available.

PMID:
24715715
2.

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
3.

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
4.

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
5.

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N.

Am J Med Genet A. 2014 Jan;164A(1):231-6. doi: 10.1002/ajmg.a.36228. Epub 2013 Nov 25.

PMID:
24352916
6.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.

Am J Med Genet A. 2013 Feb;161A(2):295-300. doi: 10.1002/ajmg.a.35735. Epub 2013 Jan 10.

PMID:
23307537
7.

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
8.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG.

Hum Mutat. 2014 Jul;35(7):809-13. doi: 10.1002/humu.22555. Epub 2014 May 6.

9.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.

Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.

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.

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.

Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.

PMID:
26871653
12.
13.

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
14.

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
15.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE, Castañeda V, Cantú JM.

Am J Med Genet. 1997 Mar 17;69(2):138-51.

PMID:
9056550
16.

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.

17.

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
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
19.

Bronchopulmonary dysplasia and pulmonary hypertension.

Hidalgo H.

J Pediatr. 1988 Oct;113(4):791-2. No abstract available.

PMID:
3171809
20.

Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings.

Poggiani C, Gasparoni MC, Mangili G, Colombo A.

Minerva Pediatr. 2000 Jan-Feb;52(1-2):63-7. English, Italian.

PMID:
10829594

Supplemental Content

Support Center