Rudolf Happle

Affiliations

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.

Publications (21)

A six-attribute classification of genetic mosaicism.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Víctor Martínez-Glez , Jair Tenorio , Julián Nevado , Gema Gordo , Lara Rodríguez-Laguna , Marta Feito , Raúl de Lucas , Luis A Pérez-Jurado , Víctor L Ruiz Pérez , Antonio Torrelo , Nancy B Spinner , Rudolf Happle , Leslie G Biesecker , Pablo Lapunzina

Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: R Happle

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

International journal of molecular sciences

Avec: Klára Veres , Judit Bene , Kinga Hadzsiev , Miklós Garami , Sára Pálla , Rudolf Happle , Márta Medvecz , Zsuzsanna Zsófia Szalai

[Syndromes with vascular skin anomalies].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete

Avec: Rudolf Happle

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

The British journal of dermatology

Avec: L Heinz , E Bourrat , P Vabres , J Thevenon , A Hotz , S Hörer , J Küsel , A D Zimmer , S Alter , R Happle , J Fischer

Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in Different

Indian dermatology online journal

Avec: Rudolf Happle

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

European journal of medical genetics

Avec: Claudia Schuart , Andrea Bassi , Friedrich Kapp , Ilse Wieland , Angelica Pagliazzi , Heike Losch , Carlo Mazzatenta , Giacomo M Bacci , Teresa Oranges , Denny Schanze , Klaus Mohnike , Arti Nanda , Judith Fischer , Martin Zenker , Rudolf Happle

Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis.

American journal of medical genetics. Part A

Avec: Rudolf Happle , Martin Wetzke

What is in a name-Perifollicular fibroma or fibrofolliculoma?

Journal of cutaneous pathology

Avec: Eckart Haneke , Rudolf Happle

An Early Description of a "Human Mosaic" Involving the Skin: A Story from 1945.

Acta dermato-venereologica

Avec: Rudolf Happle

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Acta dermato-venereologica

Avec: Sabine Jägle , Hazem A Juratli , Geoffroy Hickman , Kira Süssmuth , Maria C Boente , Julia Kopp , Peter Kirchmeier , Andreas Zimmer , Rudolf Happle , Emmanuelle Bourrat , Henning Hamm , Judith Fischer

Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.

Journal of the American Academy of Dermatology

Avec: Daniele Torchia , Rudolf Happle

[Update on nevi and nevoid skin disorders].

Dermatologie (Heidelberg, Germany)

Avec: Rudolf Happle

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

The Journal of investigative dermatology

Avec: Satyamaanasa Polubothu , Nicole Bender , Siobhan Muthiah , Davide Zecchin , Charalambos Demetriou , Sara Barberan Martin , Sony Malhotra , Jana Travnickova , Zhiqiang Zeng , Markus Böhm , Sebastien Barbarot , Catherine Cottrell , Olivia Davies , Eulalia Baselga , Nigel P Burrows , Virginie Carmignac , Joey Santiago Diaz , Christine Fink , Holger A Haenssle , Rudolf Happle , Mark Harland , Jacquelyn Majerowski , Pierre Vabres , Marie Vincent , Julia A Newton-Bishop , D Tim Bishop , Dawn Siegel , E Elizabeth Patton , Maya Topf , Neil Rajan , Beth Drolet , Veronica A Kinsler

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: R Happle , A Torrelo

Conradi-Hünermann-Happle syndrome with minimal signs.

Pediatric dermatology

Avec: Manuel Agud-Dios , Nelmar Valentina Ortiz Cabrera , Lucero Noguera-Morel , Angela Hernández-Martín , Isabel Colmenero , Rudolf Happle , Antonio Torrelo

Autosomal dominant inheritance with sex-limited manifestation: An unusual mode of transmission in humans and animals.

American journal of medical genetics. Part A

Avec: Rudolf Happle , Kilian Eyerich

Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

European journal of dermatology : EJD

Avec: Daniele Torchia , Rudolf Happle

Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the Bork-Baykal phenomenon.

Pediatric dermatology

Avec: Nicole Knöpfel , Martin Theiler , Pedro Rodríguez-Jiménez , Rudolf Happle , Lisa Weibel , Antonio Torrelo

A Family with Palmar and Plantar Hyperkeratosis: A Quiz.

Acta dermato-venereologica

Avec: Hazem A Juratli , Sabine Jägle , Rudolf Happle , Pinar Avci , Dario Didona , Judith Fischer

Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Rudolf Happle

Réseau de co-auteurs

Antonio Torrelo 3 collaborations

R Happle 3 collaborations

Judith Fischer 3 collaborations

Sabine Jägle 2 collaborations

Hazem A Juratli 2 collaborations

Daniele Torchia 2 collaborations

Víctor Martínez-Glez 1 collaboration

Jair Tenorio 1 collaboration

Julián Nevado 1 collaboration

Gema Gordo 1 collaboration

Lara Rodríguez-Laguna 1 collaboration

Marta Feito 1 collaboration

Raúl de Lucas 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Víctor L Ruiz Pérez 1 collaboration

Nancy B Spinner 1 collaboration

Leslie G Biesecker 1 collaboration

Pablo Lapunzina 1 collaboration

Klára Veres 1 collaboration

Judit Bene 1 collaboration

Kinga Hadzsiev 1 collaboration

Miklós Garami 1 collaboration

Sára Pálla 1 collaboration

Márta Medvecz 1 collaboration

Zsuzsanna Zsófia Szalai 1 collaboration

L Heinz 1 collaboration

E Bourrat 1 collaboration

P Vabres 1 collaboration

J Thevenon 1 collaboration

A Hotz 1 collaboration

S Hörer 1 collaboration

J Küsel 1 collaboration

A D Zimmer 1 collaboration

S Alter 1 collaboration

J Fischer 1 collaboration

Claudia Schuart 1 collaboration

Andrea Bassi 1 collaboration

Friedrich Kapp 1 collaboration

Ilse Wieland 1 collaboration

Angelica Pagliazzi 1 collaboration

Heike Losch 1 collaboration

Carlo Mazzatenta 1 collaboration

Giacomo M Bacci 1 collaboration

Teresa Oranges 1 collaboration

Denny Schanze 1 collaboration

Klaus Mohnike 1 collaboration

Arti Nanda 1 collaboration

Martin Zenker 1 collaboration

Martin Wetzke 1 collaboration

Eckart Haneke 1 collaboration

Geoffroy Hickman 1 collaboration

Kira Süssmuth 1 collaboration

Maria C Boente 1 collaboration

Julia Kopp 1 collaboration

Peter Kirchmeier 1 collaboration

Andreas Zimmer 1 collaboration

Emmanuelle Bourrat 1 collaboration

Henning Hamm 1 collaboration

Satyamaanasa Polubothu 1 collaboration

Nicole Bender 1 collaboration

Siobhan Muthiah 1 collaboration

Davide Zecchin 1 collaboration

Charalambos Demetriou 1 collaboration

Sara Barberan Martin 1 collaboration

Sony Malhotra 1 collaboration

Jana Travnickova 1 collaboration

Zhiqiang Zeng 1 collaboration

Markus Böhm 1 collaboration

Sebastien Barbarot 1 collaboration

Catherine Cottrell 1 collaboration

Olivia Davies 1 collaboration

Eulalia Baselga 1 collaboration

Nigel P Burrows 1 collaboration

Virginie Carmignac 1 collaboration

Joey Santiago Diaz 1 collaboration

Christine Fink 1 collaboration

Holger A Haenssle 1 collaboration

Mark Harland 1 collaboration

Jacquelyn Majerowski 1 collaboration

Pierre Vabres 1 collaboration

Marie Vincent 1 collaboration

Julia A Newton-Bishop 1 collaboration

D Tim Bishop 1 collaboration

Dawn Siegel 1 collaboration

E Elizabeth Patton 1 collaboration

Maya Topf 1 collaboration

Neil Rajan 1 collaboration

Beth Drolet 1 collaboration

Veronica A Kinsler 1 collaboration

A Torrelo 1 collaboration

Manuel Agud-Dios 1 collaboration

Nelmar Valentina Ortiz Cabrera 1 collaboration

Lucero Noguera-Morel 1 collaboration

Angela Hernández-Martín 1 collaboration

Isabel Colmenero 1 collaboration

Kilian Eyerich 1 collaboration

Nicole Knöpfel 1 collaboration

Martin Theiler 1 collaboration

Pedro Rodríguez-Jiménez 1 collaboration

Lisa Weibel 1 collaboration

Pinar Avci 1 collaboration

Dario Didona 1 collaboration