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Results: 1 to 20 of 50

1.

Achalasia: will genetic studies provide insights?

Gockel HR, Schumacher J, Gockel I, Lang H, Haaf T, Nöthen MM.

Hum Genet. 2010 Oct;128(4):353-64. doi: 10.1007/s00439-010-0874-8. Epub 2010 Aug 11. Review.

PMID:
20700745
[PubMed - indexed for MEDLINE]
2.

Genetics of Hirschsprung disease and anorectal malformations.

Mundt E, Bates MD.

Semin Pediatr Surg. 2010 May;19(2):107-17. doi: 10.1053/j.sempedsurg.2009.11.015. Review.

PMID:
20307847
[PubMed - indexed for MEDLINE]
3.

Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia.

Taketomi T, Yoshiga D, Taniguchi K, Kobayashi T, Nonami A, Kato R, Sasaki M, Sasaki A, Ishibashi H, Moriyama M, Nakamura K, Nishimura J, Yoshimura A.

Nat Neurosci. 2005 Jul;8(7):855-7.

PMID:
15937482
[PubMed - indexed for MEDLINE]
4.

Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease.

Gockel HR, Gockel I, Schimanski CC, Schier F, Schumacher J, Nöthen MM, Lang H, Müller M, Eckardt AJ, Eckardt VF.

Dis Esophagus. 2012 Aug;25(6):566-72. doi: 10.1111/j.1442-2050.2011.01277.x. Epub 2011 Nov 2. Review.

PMID:
22050474
[PubMed - indexed for MEDLINE]
5.

[Familial dysphagia].

Frieling T, Wienbeck M, Berges W, Wedershoven J, Erckenbrecht J, Lübke H, Borchard F, Feiden W.

Z Gastroenterol. 1986 Jul;24(7):344-52. German.

PMID:
3751199
[PubMed - indexed for MEDLINE]
6.

Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice.

Shen L, Pichel JG, Mayeli T, Sariola H, Lu B, Westphal H.

Am J Hum Genet. 2002 Feb;70(2):435-47. Epub 2002 Jan 3.

PMID:
11774071
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Megaoesophagus in Rassf1a-null mice.

van der Weyden L, Happerfield L, Arends MJ, Adams DJ.

Int J Exp Pathol. 2009 Apr;90(2):101-8. doi: 10.1111/j.1365-2613.2008.00635.x.

PMID:
19335548
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Association of IL10 promoter polymorphisms with idiopathic achalasia.

Nuñez C, García-González MA, Santiago JL, Benito MS, Mearín F, de la Concha EG, de la Serna JP, de León AR, Urcelay E, Vigo AG.

Hum Immunol. 2011 Sep;72(9):749-52. doi: 10.1016/j.humimm.2011.05.017. Epub 2011 May 24.

PMID:
21641950
[PubMed - indexed for MEDLINE]
9.

The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic cancer cell invasion by amplifying mitogen-activated protein kinase signaling.

Sawai H, Okada Y, Kazanjian K, Kim J, Hasan S, Hines OJ, Reber HA, Hoon DS, Eibl G.

Cancer Res. 2005 Dec 15;65(24):11536-44.

PMID:
16357163
[PubMed - indexed for MEDLINE]
Free Article
10.

Achalasia cardia in mother and son.

Sachdev A, Sandhu BS, D'cruz S, Lehl SS, Agarwal V.

Indian J Gastroenterol. 2004 May-Jun;23(3):109.

PMID:
15250570
[PubMed - indexed for MEDLINE]
11.

Contribution of HLA class II genes to susceptibility in achalasia.

De la Concha EG, Fernandez-Arquero M, Mendoza JL, Conejero L, Figueredo MA, Perez de la Serna J, Diaz-Rubio M, Ruiz de Leon A.

Tissue Antigens. 1998 Oct;52(4):381-4.

PMID:
9820602
[PubMed - indexed for MEDLINE]
12.

Congenital achalasia: facts and fantasies.

Zilberstein B, de Cleva R, Gabriel AG, Neto SG, Gama-Rodrigues JJ.

Dis Esophagus. 2005;18(5):335-7.

PMID:
16197535
[PubMed - indexed for MEDLINE]
13.

Association between idiopathic achalasia and IL23R gene.

de León AR, de la Serna JP, Santiago JL, Sevilla C, Fernández-Arquero M, de la Concha EG, Nuñez C, Urcelay E, Vigo AG.

Neurogastroenterol Motil. 2010 Jul;22(7):734-8, e218. doi: 10.1111/j.1365-2982.2010.01497.x. Epub 2010 Mar 31.

PMID:
20367798
[PubMed - indexed for MEDLINE]
14.

Dok-4 regulates GDNF-dependent neurite outgrowth through downstream activation of Rap1 and mitogen-activated protein kinase.

Uchida M, Enomoto A, Fukuda T, Kurokawa K, Maeda K, Kodama Y, Asai N, Hasegawa T, Shimono Y, Jijiwa M, Ichihara M, Murakumo Y, Takahashi M.

J Cell Sci. 2006 Aug 1;119(Pt 15):3067-77. Epub 2006 Jul 4.

PMID:
16820412
[PubMed - indexed for MEDLINE]
Free Article
15.

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.

Hum Mol Genet. 1997 Jul;6(7):1051-6.

PMID:
9215674
[PubMed - indexed for MEDLINE]
Free Article
16.

Low-threshold mechanoreceptor subtypes selectively express MafA and are specified by Ret signaling.

Bourane S, Garces A, Venteo S, Pattyn A, Hubert T, Fichard A, Puech S, Boukhaddaoui H, Baudet C, Takahashi S, Valmier J, Carroll P.

Neuron. 2009 Dec 24;64(6):857-70. doi: 10.1016/j.neuron.2009.12.004.

PMID:
20064392
[PubMed - indexed for MEDLINE]
Free Article
17.

Impact of genetic polymorphisms on the pathogenesis of achalasia: an age-dependent paradigm?

Sarnelli G.

Neurogastroenterol Motil. 2009 Jun;21(6):575-8. doi: 10.1111/j.1365-2982.2009.01319.x.

PMID:
19646069
[PubMed - indexed for MEDLINE]
18.

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S.

Nat Genet. 1996 Nov;14(3):345-7.

PMID:
8896569
[PubMed - indexed for MEDLINE]
19.

[Molecular basis of Hirschsprung disease].

Inoue M, Okada A.

Nihon Rinsho. 1998 Jan;56(1):249-57. Review. Japanese.

PMID:
9465697
[PubMed - indexed for MEDLINE]
20.

Achalasia in monozygotic twins.

Stein DT, Knauer CM.

Dig Dis Sci. 1982 Jul;27(7):636-40.

PMID:
7200858
[PubMed - indexed for MEDLINE]

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