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Results: 1 to 20 of 62

1.

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.

Müller CM, Haase MG, Kemnitz I, Fitze G.

Gene. 2014 May 10;541(1):51-4. doi: 10.1016/j.gene.2014.02.027. Epub 2014 Mar 7.

PMID:
24613280
[PubMed - indexed for MEDLINE]
2.

Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis.

Lake JI, Tusheva OA, Graham BL, Heuckeroth RO.

J Clin Invest. 2013 Nov 1;123(11):4875-87.

PMID:
24216510
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease: a potentially misleading observation.

Kapur RP.

Pediatr Dev Pathol. 2014 Jan-Feb;17(1):28-35. doi: 10.2350/13-10-1387-OA.1. Epub 2013 Oct 29.

PMID:
24168728
[PubMed - indexed for MEDLINE]
4.

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

Corujeira S, Águeda S, Monteiro G, Canelhas A, Sampaio M, Rocha R, Leão M.

Eur J Med Genet. 2013 Nov;56(11):603-5. doi: 10.1016/j.ejmg.2013.09.005. Epub 2013 Sep 30.

PMID:
24090718
[PubMed - indexed for MEDLINE]
5.

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.

Wang Y, Wang J, Pan W, Zhou Y, Xiao Y, Zhou K, Wen J, Yu T, Cai W.

PLoS One. 2013 Sep 20;8(9):e75407. doi: 10.1371/journal.pone.0075407. eCollection 2013.

PMID:
24073265
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mowat-Wilson syndrome detected by using high resolution microarray.

Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ.

Gene. 2013 Dec 15;532(2):307-9. doi: 10.1016/j.gene.2013.07.067. Epub 2013 Sep 9.

PMID:
24029077
[PubMed - indexed for MEDLINE]
7.

Defining the transition zone of Hirschsprung disease.

Collins MH, Reyes-Múgica M.

Pediatr Dev Pathol. 2013 Jul-Aug;16(4):235-6. doi: 10.2350/13-06-1349-ED.1. No abstract available.

PMID:
23952804
[PubMed - indexed for MEDLINE]
8.

Interstitial cells of Cajal in the normal human gut and in Hirschsprung disease.

Gfroerer S, Rolle U.

Pediatr Surg Int. 2013 Sep;29(9):889-97. doi: 10.1007/s00383-013-3364-y. Review.

PMID:
23917331
[PubMed - indexed for MEDLINE]
9.

Hirschsprung-associated enterocolitis: pathogenesis, treatment and prevention.

Demehri FR, Halaweish IF, Coran AG, Teitelbaum DH.

Pediatr Surg Int. 2013 Sep;29(9):873-81. doi: 10.1007/s00383-013-3353-1. Review.

PMID:
23913261
[PubMed - indexed for MEDLINE]
10.

Hirschsprung disease and use of calretinin in inadequate rectal suction biopsies.

Gonzalo DH, Plesec T.

Arch Pathol Lab Med. 2013 Aug;137(8):1099-102. doi: 10.5858/arpa.2012-0220-OA.

PMID:
23899067
[PubMed - indexed for MEDLINE]
11.

Hirschsprung disease: a developmental disorder of the enteric nervous system.

McKeown SJ, Stamp L, Hao MM, Young HM.

Wiley Interdiscip Rev Dev Biol. 2013 Jan-Feb;2(1):113-29. doi: 10.1002/wdev.57. Epub 2012 Apr 24. Review.

PMID:
23799632
[PubMed - indexed for MEDLINE]
12.

Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.

Virtanen VB, Pukkala E, Kivisaari R, Salo PP, Koivusalo A, Arola J, Miettinen PJ, Rintala RJ, Perola M, Pakarinen MP.

Endocr Relat Cancer. 2013 Jul 12;20(4):595-602. doi: 10.1530/ERC-13-0082. Print 2013 Aug.

PMID:
23744765
[PubMed - indexed for MEDLINE]
13.

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.

Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM.

Dev Biol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019. Epub 2013 May 23. Review.

PMID:
23707863
[PubMed - indexed for MEDLINE]
Free Article
14.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S.

PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013.

PMID:
23671607
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The prevalence of Hirschsprung disease in premature infants after suction rectal biopsy.

Sharp NE, Pettiford-Cunningham J, Shah SR, Thomas P, Juang D, St Peter SD, Ostlie DJ.

J Surg Res. 2013 Sep;184(1):374-7. doi: 10.1016/j.jss.2013.03.088. Epub 2013 Apr 19.

PMID:
23647803
[PubMed - indexed for MEDLINE]
16.

Hirschsprung disease.

Langer JC.

Curr Opin Pediatr. 2013 Jun;25(3):368-74. doi: 10.1097/MOP.0b013e328360c2a0. Review.

PMID:
23615177
[PubMed - indexed for MEDLINE]
17.

A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.

Kiraz A, Aldemir O, Karabulut Y, Turan C, Dundar M.

Genet Couns. 2013;24(1):61-8.

PMID:
23610866
[PubMed - indexed for MEDLINE]
18.

Hirschsprung's disease as a model of complex genetic etiology.

Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G.

Histol Histopathol. 2013 Sep;28(9):1117-36. Epub 2013 Apr 19. Review.

PMID:
23605783
[PubMed - indexed for MEDLINE]
19.

Open versus transanal pull-through for Hirschsprung disease: a systematic review of long-term outcome.

Gosemann JH, Friedmacher F, Ure B, Lacher M.

Eur J Pediatr Surg. 2013 Apr;23(2):94-102. doi: 10.1055/s-0033-1343085. Epub 2013 Apr 9. Review.

PMID:
23572464
[PubMed - indexed for MEDLINE]
20.

The developmental etiology and pathogenesis of Hirschsprung disease.

Butler Tjaden NE, Trainor PA.

Transl Res. 2013 Jul;162(1):1-15. doi: 10.1016/j.trsl.2013.03.001. Epub 2013 Mar 22. Review.

PMID:
23528997
[PubMed - indexed for MEDLINE]
Free PMC Article

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