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Alain Hovnanian

Veröffentlichungen von Alain Hovnanian zu Hovnanian, Alain ->
weitere Veröffentlichungen von Alain Hovnanian:
A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa (1993)
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa (1993)
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome (1996)
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity (2005)
Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea (2007)
Mutations in SPINK5, encoding a serine protease inhibitor, causeNetherton syndrome (2000)
Gene polymorphism in Netherton and common atopic disease (2001)
Mutations in ATP2A2, encoding a Ca2+ pump, causeDarier disease (1999)
Veröffentlichungen zu Hovnanian, Alain
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1
Hilal, Latifa, Rochat, Ariane, ... A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 5, No. 3 (1993), p. 287-293
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1993
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2
Christiano, Angela M., Greenspan, Daniel S., ... A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 4, No. 1 (1993), p. 62-66
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1993
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3
Maestrini, Elena, Monaco, Anthony P., ... A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 13, No. 1 (1996), p. 70-77
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1996
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4
Descargues, Pascal, Deraison, Céline, ... Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 37, No. 1 (2005), p. 56-65
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2005
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5
Yamasaki, Kenshi, Di Nardo, Anna, ... Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea
in: Nature medicine . - New York, NY : Nature America Inc., ISSN 1546-170X, Vol. 13, No. 8 (2007), p. 975-980
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2007
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6
Chavanas, Stéphane, Bodemer, Christine, ... Mutations in SPINK5, encoding a serine protease inhibitor, causeNetherton syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 25, No. 2 (2000), p. 141-142
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2000
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7
Walley, Andrew J., Chavanas, Stéphane, ... Gene polymorphism in Netherton and common atopic disease
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 2 (2001), p. 175-178
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2001
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8
Sakuntabhai, Anavaj, Ruiz-Perez, Victor, ... Mutations in ATP2A2, encoding a Ca<sup>2+</sup> pump, causeDarier disease
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 21, No. 3 (1999), p. 271-277
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1999