Literature DB >> 24898502

[Rare diseases are common].

C Has1, K Giehl.   

Abstract

Mesh:

Year:  2014        PMID: 24898502     DOI: 10.1007/s00105-013-2709-8

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


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  5 in total

1.  [Genetic significance of Blaschko's lines].

Authors:  R Happle
Journal:  Z Hautkr       Date:  1977-09-15

2.  [Important genodermatoses for the practitioner].

Authors:  P Itin; D A Salgado
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

3.  Inflammatory skin and bowel disease linked to ADAM17 deletion.

Authors:  Diana C Blaydon; Paolo Biancheri; Wei-Li Di; Vincent Plagnol; Rita M Cabral; Matthew A Brooke; David A van Heel; Franz Ruschendorf; Mark Toynbee; Amanda Walne; Edel A O'Toole; Joanne E Martin; Keith Lindley; Tom Vulliamy; Dominic J Abrams; Thomas T MacDonald; John I Harper; David P Kelsell
Journal:  N Engl J Med       Date:  2011-10-20       Impact factor: 91.245

4.  Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Authors:  Liat Samuelov; Ofer Sarig; Robert M Harmon; Debora Rapaport; Akemi Ishida-Yamamoto; Ofer Isakov; Jennifer L Koetsier; Andrea Gat; Ilan Goldberg; Reuven Bergman; Ronen Spiegel; Ori Eytan; Shamir Geller; Sarit Peleg; Noam Shomron; Christabelle S M Goh; Neil J Wilson; Frances J D Smith; Elizabeth Pohler; Michael A Simpson; W H Irwin McLean; Alan D Irvine; Mia Horowitz; John A McGrath; Kathleen J Green; Eli Sprecher
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330

5.  Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Authors:  Patrick Campbell; Penny E Morton; Takuya Takeichi; Amr Salam; Nerys Roberts; Laura E Proudfoot; Jemima E Mellerio; Kingi Aminu; Cheryl Wellington; Sachin N Patil; Masashi Akiyama; Lu Liu; James R McMillan; Sophia Aristodemou; Akemi Ishida-Yamamoto; Alya Abdul-Wahab; Gabriela Petrof; Kenneth Fong; Sarawin Harnchoowong; Kristina L Stone; John I Harper; W H Irwin McLean; Michael A Simpson; Maddy Parsons; John A McGrath
Journal:  J Invest Dermatol       Date:  2014-04-01       Impact factor: 8.551

  5 in total
  1 in total

Review 1.  [Practical aspects of molecular diagnostics in genodermatoses].

Authors:  C Has; Y He
Journal:  Hautarzt       Date:  2016-01       Impact factor: 0.751

  1 in total

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