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Items: 1 to 20 of 102

1.

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype.

Markljung E, Adamovic T, Cao J, Naji H, Kaiser S, Wester T, Nordenskjöld A.

Gene. 2012 Oct 1;507(1):50-3. doi: 10.1016/j.gene.2012.06.096. Epub 2012 Jul 20.

PMID:
22820079
2.

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

Merello E, De Marco P, Ravegnani M, Riccipetitoni G, Cama A, Capra V.

Eur J Med Genet. 2013 Dec;56(12):648-54. doi: 10.1016/j.ejmg.2013.09.011. Epub 2013 Oct 3.

PMID:
24095820
3.

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL.

Gene. 2013 Apr 15;518(2):457-60. doi: 10.1016/j.gene.2013.01.029. Epub 2013 Jan 29.

PMID:
23370340
4.

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
5.

Presacral teratoma in a Curarrino syndrome woman with an unreported insertion in MNX1 gene.

Lin YH, Huang RL, Lai HC.

Taiwan J Obstet Gynecol. 2011 Dec;50(4):512-4. doi: 10.1016/j.tjog.2011.10.020.

6.

MNX1 (HLXB9) mutations in Currarino patients.

Garcia-Barceló MM, Lui VC, So MT, Miao X, Leon TY, Yuan ZW, Ngan ES, Ehsan T, Chung PH, Khong PL, Wong KK, Tam PK.

J Pediatr Surg. 2009 Oct;44(10):1892-8. doi: 10.1016/j.jpedsurg.2009.03.039.

PMID:
19853743
7.

Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.

Köchling J, Karbasiyan M, Reis A.

Eur J Hum Genet. 2001 Aug;9(8):599-605.

8.

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens.

Ciotti P, Mandich P, Bellone E, Ceppa P, Bovio M, Ameri P, Torre G, Fiocca R, Murialdo G.

Am J Med Genet A. 2011 Nov;155A(11):2750-3. doi: 10.1002/ajmg.a.34031. Epub 2011 Sep 13.

PMID:
21915987
9.

Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation.

Kim AY, Yoo SY, Kim JH, Eo H, Jeon TY.

Clin Imaging. 2013 Mar-Apr;37(2):398-402. doi: 10.1016/j.clinimag.2012.05.007. Epub 2012 Jun 12.

PMID:
23466002
10.

Currarino syndrome at Rikshospitalet 1961-2012.

Monclair T, Lundar T, Smevik B, Holm I, Ørstavik KH.

Tidsskr Nor Laegeforen. 2013 Nov 26;133(22):2364-8. doi: 10.4045/tidsskr.13.0352. English, Norwegian.

11.

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, Babovic-Vuksanovic D.

Clin Genet. 2016 Jan;89(1):109-14. doi: 10.1111/cge.12572. Epub 2015 Mar 15. Review.

PMID:
25691298
12.

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios.

Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS.

Gene. 2017 Aug 15;624:50-55. doi: 10.1016/j.gene.2017.04.030. Epub 2017 Apr 27.

PMID:
28456592
13.

A novel HLXB9 mutation in a Chinese family with Currarino syndrome.

Wang Y, Wu Y.

Eur J Pediatr Surg. 2012 Jun;22(3):243-5. doi: 10.1055/s-0031-1284421. Epub 2011 Sep 29. No abstract available.

PMID:
21960426
14.

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
15.

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
16.

Presentation of incomplete Currarino triad in a 12-day-old patient with vomiting: a case report.

Kasem AJ, Pottker T.

Pediatr Emerg Care. 2013 Jul;29(7):836-7. doi: 10.1097/PEC.0b013e3182989c9d.

PMID:
23823266
17.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, Reutter H, Ludwig M.

Clin Genet. 2017 May;91(5):661-671. doi: 10.1111/cge.12848. Epub 2016 Oct 10. Review.

PMID:
27549440
18.

Currarino syndrome and spinal dysraphism.

Kole MJ, Fridley JS, Jea A, Bollo RJ.

J Neurosurg Pediatr. 2014 Jun;13(6):685-9. doi: 10.3171/2014.3.PEDS13534. Epub 2014 Apr 18.

PMID:
24745342
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: 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

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