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Research.com Recognitions

  • 1995 - German National Academy of Sciences Leopoldina - Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften Internal Medicine and Dermatology

Overview

Rudolf Happle is affiliated with the University of Freiburg in Germany and has an extensive publication record primarily in the fields of biochemistry, genetics, and molecular biology, with a particular focus on genetics and dermatology. Their work spans multiple subfields including molecular biology, cell biology, and pathology and forensic medicine.

The researcher has contributed significantly to topics such as genetic and rare skin diseases, cancer and skin lesions, skin and cellular biology research, dermatological and skeletal disorders, RNA regulation and disease, hedgehog signaling pathway studies, and melanin and skin pigmentation.

Selected recent publications by Rudolf Happle include:

  • Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations? (2020, Journal of the European Academy of Dermatology and Venereology)
  • Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation (2020, Journal of the European Academy of Dermatology and Venereology)

Other notable papers coauthored with different researchers include:

  • A six-attribute classification of genetic mosaicism (2020, Genetics in Medicine)
  • Linear atrophoderma of Moulin (2020, Definitions)
  • Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations (2022, European Journal of Medical Genetics)

Frequent collaborators of Rudolf Happle include Judith Fischer, Antonio Torrelo, Sabine Jägle, Hazem A. Juratli, and Eckart Haneke. The primary venues where this researcher's work has appeared include:

  • Journal of the European Academy of Dermatology and Venereology
  • Acta Dermato Venereologica
  • American Journal of Medical Genetics Part A
  • JDDG Journal der Deutschen Dermatologischen Gesellschaft
  • Journal of the American Academy of Dermatology

Rudolf Happle was recognized by the German National Academy of Sciences Leopoldina in 1995 for contributions related to internal medicine and dermatology.

Best Publications

  • Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin

    Rudolf Happle

  • Mosaicism in Human Skin: Understanding the Patterns and Mechanisms

    Rudolf Happle

  • Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

    Leslie G. Biesecker;Rudolf Happle;John B. Mulliken;Rosanna Weksberg

  • Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome

    Arne König;Rudolf Happle;Dorothea Bornholdt;Hartmut Engel

  • The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

    R. Happle

  • Deficiency of PORCN, a Regulator of Wnt Signaling, Is Associated With Focal Dermal Hypoplasia

    Karl Heinz Grzeschik;Dorothea Bornholdt;Frank Oeffner;Arne König

  • Cigarette smoking as a triggering factor of hidradenitis suppurativa.

    A. König;C. Lehmann;R. Rompel;R. Happle

  • Thalidomide in the treatment of sixty cases of chronic discoid lupus erythematosus.

    J. Knop;G. Bonsmann;R. Happle;A. Ludolph

  • Is the evidence for homoeopathy reproducible

    P M Rothwell

  • Lyonization and the lines of Blaschko

    R. Happle

  • Loss of heterozygosity in human skin

    Rudolf Happle

  • The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

    R. Happle;H. Koch;W. Lenz

  • Phacomatosis Pigmentovascularis Revisited and Reclassified

    Rudolf Happle

  • The group of epidermal nevus syndromes Part I. Well defined phenotypes.

    Rudolf Happle

  • A Rule Concerning the Segmental Manifestation of Autosomal Dominant Skin Disorders Review of Clinical Examples Providing Evidence for Dichotomous Types of Severity

    Rudolf Happle

  • CYTOKINE MRNA LEVELS IN ALOPECIA AREATA BEFORE AND AFTER TREATMENT WITH THE CONTACT ALLERGEN DIPHENYLCYCLOPROPENONE

    Rolf Hoffmann;Elke Wenzel;Andrea Huth;Pieter van der Steen

  • Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

    Anna C. Thomas;Zhiqiang Zeng;Jean-Baptiste Rivière;Ryan O’Shaughnessy

  • Epidermal nevus syndromes

    Rudolf Happle

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

    Pamela Poblete-Gutiérrez;Tonio Wiederholt;Arne König;Frank K. Jugert

  • How many epidermal nevus syndromes exist?: A clinicogenetic classification

    Rudolf Happle

Frequent Co-Authors

Karl-Heinz Grzeschik
Karl-Heinz Grzeschik Philipp University of Marburg
Reinhard Dummer
Reinhard Dummer University of Zurich
Thomas Bieber
Thomas Bieber University of Bonn
Günter Burg
Günter Burg University of Zurich
Giuseppe Argenziano
Giuseppe Argenziano University of Campania "Luigi Vanvitelli"
Lars E. French
Lars E. French Ludwig-Maximilians-Universität München
Alexander Kapp
Alexander Kapp Hannover Medical School
Thomas Werfel
Thomas Werfel Hannover Medical School
Leena Bruckner-Tuderman
Leena Bruckner-Tuderman University of Freiburg
Jean-Hilaire Saurat
Jean-Hilaire Saurat University of Geneva

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