Literature DB >> 22354727

First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

Ayvaz Ozge1, Hatırnaz Safak, Hatırnaz Ebru, Unsal Evrim, Sinanoglu Ekin Bilge, Ozer Leyla, Kadı Ali Kemal, Baltacı Volkan.   

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Year:  2012        PMID： 22354727      PMCID： PMC3309986          DOI： 10.1007/s10815-012-9728-8

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  30 in total

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

Authors:  J E Mellerio; L Pulkkinen; J R McMillan; B D Lake; H M Horn; M J Tidman; J I Harper; J A McGrath; J Uitto; R A Eady
Journal:  Br J Dermatol       Date:  1998-11       Impact factor: 9.302

2.  Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

Authors:  A M Christiano; I Anton-Lamprecht; S Amano; U Ebschner; R E Burgeson; J Uitto
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Authors:  H Fassihi; P J Renwick; C Black; J A McGrath
Journal:  J Dermatol Sci       Date:  2006-02-24       Impact factor: 4.563

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

Authors:  J Stoevesandt; W Borozdin; G Girschick; H Hamm; B Höcht; J Kohlhase; A Volz; B Wiewrodt; J Wirbelauer
Journal:  Klin Padiatr       Date:  2011-09-26       Impact factor: 1.349

5.  Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

Authors:  L Pulkkinen; V E Kimonis; Y Xu; E N Spanou; W H McLean; J Uitto
Journal:  Hum Mol Genet       Date:  1997-05       Impact factor: 6.150

6.  Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Authors:  F Vidal; D Aberdam; C Miquel; A M Christiano; L Pulkkinen; J Uitto; J P Ortonne; G Meneguzzi
Journal:  Nat Genet       Date:  1995-06       Impact factor: 38.330

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

Authors:  L Pulkkinen; F Rouan; L Bruckner-Tuderman; R Wallerstein; M Garzon; T Brown; L Smith; W Carter; J Uitto
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

8.  Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa.

Authors:  R J Phillips; J D Aplin; B D Lake
Journal:  Histopathology       Date:  1994-06       Impact factor: 5.087

9.  Case of epidermolysis bullosa with pyloric atresia.

Authors:  Jae-Hong Kim; Hwa-Young Park; Hae-Jin Lee; Minseob Eom; Eung Ho Choi
Journal:  Ann Dermatol       Date:  2011-09-30       Impact factor: 1.444

10.  Death from colonic disease in epidermolysis bullosa dystrophica.

Authors:  Chih-Hsin Hsieh; Che-Jen Huang; Gau-Tyan Lin
Journal:  BMC Dermatol       Date:  2006-02-15
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  2 in total

1.  Preimplantation genetic diagnosis for cystic fibrosis: a case report.

Authors:  Maria Cristina Santoro Biazotti; Walter Pinto Junior; Maria Cecília Romano Maciel de Albuquerque; Litsuko Shimabukuro Fujihara; Cláudia Haru Suganuma; Renata Bednar Reigota; Carmen Sílvia Bertuzzo
Journal:  Einstein (Sao Paulo)       Date:  2015 Jan-Mar

2.  Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Authors:  Sang Trieutien; Tam Vu Van; My Tran Ngoc Thao; Son Trinh The; Khoa Tran Van; Tung Nguyen Thanh; Tuan Tran Van; Hanh Nguyen Thi
Journal:  Appl Clin Genet       Date:  2021-12-09
  2 in total

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