Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 697

1.

Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.

Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF.

Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Review.

PMID:
18779879
[PubMed - indexed for MEDLINE]
Free Article
2.

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J.

Am J Hum Genet. 1998 Nov;63(5):1376-87.

PMID:
9792864
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.

Micheloni A, De Luca N, Tadini G, Zambruno G, D'Alessio M.

Br J Dermatol. 2004 Oct;151(4):796-802.

PMID:
15491419
[PubMed - indexed for MEDLINE]
4.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).

Masunaga T, Ishiko A, Takizawa Y, Kim SC, Lee JS, Nishikawa T, Shimizu H.

Exp Dermatol. 2004 Jan;13(1):61-4.

PMID:
15009117
[PubMed - indexed for MEDLINE]
5.

Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.

Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M.

Exp Dermatol. 2003 Oct;12(5):716-20. Erratum in: Exp Dermatol. 2003 Dec;12(6):925.

PMID:
14705814
[PubMed - indexed for MEDLINE]
6.

Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.

Takizawa Y, Shimizu H, Nishikawa T, Hatta N, Pulkkinen L, Uitto J.

J Invest Dermatol. 1997 Jun;108(6):943-6.

PMID:
9182827
[PubMed - indexed for MEDLINE]
7.

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J.

Pediatr Res. 2001 May;49(5):618-26.

PMID:
11328943
[PubMed - indexed for MEDLINE]
8.

Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.

Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH.

J Pediatr Gastroenterol Nutr. 2008 Nov;47(5):585-91. doi: 10.1097/MPG.0b013e31817af98d.

PMID:
18955862
[PubMed - indexed for MEDLINE]
9.

Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

Pulkkinen L, Kim DU, Uitto J.

Am J Pathol. 1998 Jan;152(1):157-66.

PMID:
9422533
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA.

Br J Dermatol. 1998 Nov;139(5):862-71.

PMID:
9892956
[PubMed - indexed for MEDLINE]
11.

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.

Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, Ott H, Hyla-Klekot L, Gacka E, Sieron AL, Valari M, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2013 Jul;169(1):115-24. doi: 10.1111/bjd.12317.

PMID:
23496044
[PubMed - indexed for MEDLINE]
12.

Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.

Allegra M, Gagnoux-Palacios L, Gache Y, Roques S, Lestringant G, Ortonne JP, Meneguzzi G.

J Invest Dermatol. 2003 Dec;121(6):1336-43.

PMID:
14675179
[PubMed - indexed for MEDLINE]
Free Article
13.

Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.

Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J.

Klin Padiatr. 2012 Jan;224(1):8-11. doi: 10.1055/s-0031-1285877. Epub 2011 Sep 26.

PMID:
21969027
[PubMed - indexed for MEDLINE]
14.
15.

Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.

Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J.

Lab Invest. 1997 Jun;76(6):823-33.

PMID:
9194858
[PubMed - indexed for MEDLINE]
16.

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA.

Br J Dermatol. 2001 Feb;144(2):408-14.

PMID:
11251584
[PubMed - indexed for MEDLINE]
17.

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.

Natsuga K, Nishie W, Shinkuma S, Nakamura H, Arita K, Yoneda K, Kusaka T, Yanagihara T, Kosaki R, Sago H, Akiyama M, Shimizu H.

Exp Dermatol. 2011 Jan;20(1):74-6. doi: 10.1111/j.1600-0625.2010.01177.x. Epub 2010 Oct 18.

PMID:
20955205
[PubMed - indexed for MEDLINE]
18.

Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.

D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G.

J Invest Dermatol. 2008 Dec;128(12):2815-9. doi: 10.1038/jid.2008.143. Epub 2008 Jun 19.

PMID:
18563182
[PubMed - indexed for MEDLINE]
Free Article
19.

ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia.

Abe M, Sawamura D, Goto M, Nakamura H, Nagasaki A, Nomura Y, Kawasaki H, Isogai R, Shimizu H.

J Dermatol Sci. 2007 Aug;47(2):165-7. Epub 2007 May 18. No abstract available.

PMID:
17512702
[PubMed - indexed for MEDLINE]
20.

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G.

J Clin Invest. 1997 Jun 15;99(12):2826-31.

PMID:
9185503
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk