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9 in total

1. 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

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

Authors: L Pulkkinen; D U Kim; J Uitto
Journal: Am J Pathol Date: 1998-01 Impact factor: 4.307

3. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

Authors: A M Christiano; S LaForgia; A S Paller; J McGuire; H Shimizu; J Uitto
Journal: Mol Med Date: 1996-01 Impact factor: 6.354

Review 4. Novel molecular therapies for heritable skin disorders.

Authors: Jouni Uitto; Angela M Christiano; W H Irwin McLean; John A McGrath
Journal: J Invest Dermatol Date: 2011-12-08 Impact factor: 8.551

5. Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.

Authors: L Pulkkinen; J McGrath; T Airenne; H Haakana; K Tryggvason; S Kivirikko; G Meneguzzi; J P Ortonne; A M Christiano; J Uitto
Journal: Mol Med Date: 1997-02 Impact factor: 6.354

6. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

Authors: J A McGrath; B Gatalica; K Li; M G Dunnill; J R McMillan; A M Christiano; R A Eady; J Uitto
Journal: Am J Pathol Date: 1996-06 Impact factor: 4.307

7. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Authors: A M Christiano; J A McGrath; K C Tan; J Uitto
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025

Review 8. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.

Authors: Hye Jin Chung; Jouni Uitto
Journal: Dermatol Clin Date: 2010-01 Impact factor: 3.478

9. Case report: Dystrophic Epidermolysis Bullosa: dental management and oral health promotion.

Authors: A K Louloudiadis; K A Louloudiadis
Journal: Eur Arch Paediatr Dent Date: 2009-01

9 in total