155 related articles for article (PubMed ID: 29198538)
1. A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
Ko L; Griggs CL; Mylonas KS; Masiakos PT; Kroshinsky D
J Pediatr; 2018 Feb; 193():261-264.e1. PubMed ID: 29198538
[TBL] [Abstract][Full Text] [Related]
2. ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.
Mattioli G; Diociaiuti A; Rossi S; Zambruno G; Carlucci M; Pisaneschi E; El Hachem M
Acta Derm Venereol; 2022 May; 102():adv00706. PubMed ID: 35312019
[No Abstract] [Full Text] [Related]
3. Congenital pyloric atresia, type B; with junctional epidermolysis bullosa.
Farmakis SG; Herman TE; Siegel MJ
J Perinatol; 2014 Jul; 34(7):572-3. PubMed ID: 24968903
[No Abstract] [Full Text] [Related]
4. 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. PubMed ID: 15491419
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15009117
[TBL] [Abstract][Full Text] [Related]
6. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M; Kalay E; Dilber B; Aslan Y; Dilber E; Almaani N; McGrath JA
Turk J Pediatr; 2015; 57(4):385-387. PubMed ID: 27186702
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 9792864
[TBL] [Abstract][Full Text] [Related]
8. Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4.
Yoshida K; Sadamoto M; Sasaki T; Kubo A; Ishiko A
J Dermatol; 2019 Feb; 46(2):e61-e63. PubMed ID: 30079450
[No Abstract] [Full Text] [Related]
9. 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. PubMed ID: 9182827
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18955862
[TBL] [Abstract][Full Text] [Related]
11. A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.
Li Z; Wang L; Wang S
Pediatr Dermatol; 2023; 40(4):740-742. PubMed ID: 36813478
[TBL] [Abstract][Full Text] [Related]
12. Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.
Hsu CH; Tu WT; Chen PC; Yu-Yun Lee J; Hsu CK; Chiu TM
J Dermatol; 2022 May; 49(5):e154-e156. PubMed ID: 35014068
[No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 9194858
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 9892956
[TBL] [Abstract][Full Text] [Related]
15. Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
Soyer T; Karaosmanoglu B; Taskiran EZ; Kiper PÖŞ; Karnak İ; Boduroğlu K; Utine GE
Am J Med Genet A; 2021 Nov; 185(11):3427-3432. PubMed ID: 34403180
[TBL] [Abstract][Full Text] [Related]
16. Pyloric atresia: an attempt at anatomic pyloric sphincter reconstruction.
Dessanti A; Iannuccelli M; Dore A; Meloni GB; Niolu P
J Pediatr Surg; 2000 Sep; 35(9):1372-4. PubMed ID: 10999704
[TBL] [Abstract][Full Text] [Related]
17. Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.
Shimizu H; Suzumori K; Hatta N; Nishikawa T
Arch Dermatol; 1996 Aug; 132(8):919-25. PubMed ID: 8712842
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 18779879
[TBL] [Abstract][Full Text] [Related]
19. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
Pulkkinen L; Bruckner-Tuderman L; August C; Uitto J
Am J Pathol; 1998 Apr; 152(4):935-41. PubMed ID: 9546354
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 14675179
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]