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22. 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]
23. 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. PubMed ID: 14705814 [TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Management of urinary tract in children with epidermolysis bullosa. Donatucci CF; Berger TG; Deshon GE Urology; 1992 Aug; 40(2):137-42. PubMed ID: 1502749 [TBL] [Abstract][Full Text] [Related]
28. Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature. Zhou X; Wang M; Wang S; Jiang X; Li W J Dermatol; 2021 Nov; 48(11):1780-1785. PubMed ID: 34462954 [TBL] [Abstract][Full Text] [Related]
29. Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. Kayki G; Bozkaya D; Ozaltin F; Orhan D; Kaymaz F; Korkmaz E; Yigit S Fetal Pediatr Pathol; 2017 Aug; 36(4):332-339. PubMed ID: 28557647 [TBL] [Abstract][Full Text] [Related]
30. Pyloric atresia--three cases and review of literature. Parelkar SV; Kapadnis SP; Sanghvi BV; Joshi PB; Mundada D; Shetty S; Oak SN Afr J Paediatr Surg; 2014; 11(4):362-5. PubMed ID: 25323191 [TBL] [Abstract][Full Text] [Related]
31. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Chavanas S; Gache Y; Vailly J; Kanitakis J; Pulkkinen L; Uitto J; Ortonne J; Meneguzzi G Hum Mol Genet; 1999 Oct; 8(11):2097-105. PubMed ID: 10484780 [TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 23496044 [TBL] [Abstract][Full Text] [Related]
33. Junctional epidermolysis bullosa and pyloric atresia in two siblings. Egan N; Ward R; Olmstead M; Marks JG Arch Dermatol; 1985 Sep; 121(9):1186-8. PubMed ID: 4037846 [TBL] [Abstract][Full Text] [Related]
34. [Bart´s syndrome associated with epidermolysis bullosa junctionalis and with pyloric atresia. An autopsy case report]. Adamicová K; Balhárek T; Lúčanová L; Nyitrayová O; Fetisovová Z Cesk Patol; 2014; 50(4):155-8. PubMed ID: 25418904 [TBL] [Abstract][Full Text] [Related]
40. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Birnbaum RY; Landau D; Elbedour K; Ofir R; Birk OS; Carmi R Am J Med Genet A; 2008 Apr; 146A(8):1063-6. PubMed ID: 18348258 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]