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Items: 1 to 20 of 152

1.

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB.

Eur J Pediatr. 2010 Apr;169(4):475-81. doi: 10.1007/s00431-009-1061-6. Epub 2009 Oct 17.

2.
3.

Currarino triad with a terminal deletion 7q35-->qter.

Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K, Ohhama Y, Nishi T, Kuroki Y.

J Med Genet. 1996 Oct;33(10):877-8.

4.

Autosomal dominant sacral agenesis: Currarino syndrome.

Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S.

J Med Genet. 2000 Aug;37(8):561-6. Review.

5.

Complete familial Currarino triad. Report of three cases in one family.

Kurosaki M, Kamitani H, Anno Y, Watanabe T, Hori T, Yamasaki T.

J Neurosurg. 2001 Jan;94(1 Suppl):158-61.

PMID:
11147855
6.

The Currarino triad: the variable expression.

Emans PJ, Kootstra G, Marcelis CL, Beuls EA, van Heurn LW.

J Pediatr Surg. 2005 Aug;40(8):1238-42.

PMID:
16080925
7.

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS.

J Hum Genet. 2007;52(8):698-701. Epub 2007 Jul 6.

PMID:
17612791
9.

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Lerone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V.

Hum Genet. 1999 Jan;104(1):108-10.

PMID:
10071202
10.
11.

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A.

Eur J Hum Genet. 2006 Aug;14(8):971-4. Epub 2006 May 17.

12.

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T.

Nat Genet. 1995 Sep;11(1):93-5.

PMID:
7550324
13.

Currarino syndrome: proposal of a diagnostic and therapeutic protocol.

Martucciello G, Torre M, Belloni E, Lerone M, Pini Prato A, Cama A, Jasonni V.

J Pediatr Surg. 2004 Sep;39(9):1305-11. Review.

PMID:
15359381
14.

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T.

Nat Genet. 1998 Dec;20(4):358-61.

PMID:
9843207
15.

Currarino triad: surgical management and follow-up results of four [correction of three] cases.

Isik N, Elmaci I, Gokben B, Balak N, Tosyali N.

Pediatr Neurosurg. 2010 Aug;46(2):110-9. doi: 10.1159/000319007. Epub 2010 Jul 20. Erratum in: Pediatr Neurosurg. 2010 Aug 46(2):150.

PMID:
20664237
16.

Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome.

Zu S, Winberg J, Arnberg F, Palmer G, Svensson PJ, Wester T, Nordenskjöld A.

J Pediatr Surg. 2011 Jul;46(7):1390-5. doi: 10.1016/j.jpedsurg.2011.02.039.

PMID:
21763840
17.

[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families].

Riebel T, Köchling J, Scheer I, Oellinger J, Reis A.

Rofo. 2004 Apr;176(4):564-9. German.

PMID:
15088182
18.

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S.

Hum Mutat. 2008 Jul;29(7):903-10. doi: 10.1002/humu.20718.

PMID:
18449898
19.

A previously unreported mutation in a Currarino syndrome kindred.

Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM Jr.

Am J Med Genet A. 2006 Sep 15;140(18):1923-30.

PMID:
16906559
20.

The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass.

Kirks DR, Merten DF, Filston HC, Oakes WJ.

Pediatr Radiol. 1984;14(4):220-5.

PMID:
6728549
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