Literature DB >> 8958340

Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity.

R Happle.   

Abstract

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Year:  1996        PMID： 8958340     DOI： 10.1002/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  8 in total

1.  Piecing together the puzzle of cutaneous mosaicism.

Authors:  Amy S Paller
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

Review 2.  Cutaneous mosaicism: right before our eyes.

Authors:  Jorge Frank; Rudolf Happle
Journal:  J Clin Invest       Date:  2007-05       Impact factor: 14.808

3.  Neurocutaneous melanocytosis (melanosis).

Authors:  Martino Ruggieri; Agata Polizzi; Stefano Catanzaro; Manuela Lo Bianco; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-10-13       Impact factor: 1.475

4.  Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).

Authors:  Martino Ruggieri; Andrea D Praticò; Rosario Caltabiano; Agata Polizzi
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

5.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

6.  Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.

Authors:  Martino Ruggieri; Andrea D Praticò; Agostino Serra; Luigi Maiolino; Salvatore Cocuzza; Rosario Caltabiano; Agata Polizzi
Journal:  Childs Nerv Syst       Date:  2016-09-26       Impact factor: 1.475

7.  Multiple cutaneous and uterine leiomyomatosis syndrome: a review.

Authors:  Sonal Choudhary; Michael McLeod; Daniele Torchia; Paolo Romanelli
Journal:  J Clin Aesthet Dermatol       Date:  2013-04

8.  Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

Authors:  Pamela Poblete-Gutiérrez; Tonio Wiederholt; Arne König; Frank K Jugert; Yvonne Marquardt; Albert Rübben; Hans F Merk; Rudolf Happle; Jorge Frank
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808
  8 in total

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