Rudolf Happle : rechercher sur Z-Library

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1

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño,

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1022 KB

english, 2009

2

Cytokines and growth factors influence hair growth in vitro. Possible implications for the pathogenesis and treatment of alopecia areata

Rolf Hoffmann, Wolfgang Eicheler, Andrea Huth, Elke Wenzel, Rudolf Happle

Journal:

Archives of Dermatological Research

Année:

1996

Langue:

english

Fichier:

PDF, 110 KB

english, 1996

3

CHILD syndrome in a boy

Happle, Rudolf, Effendy, Isaak, Megahed, Mosaad, Orlow, Seth J., Küster, Wolfgang

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 420 KB

english, 1996

4

Erratum

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 27 KB

1996

5

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 348 KB

english, 2009

6

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 232 KB

english, 2009

7

Alopecia Areata: Treatment of Today and Tomorrow

Freyschmidt-Paul, Pia, Happle, Rudolf, McElwee, Kevin J., Hoffmann, Rolf

Journal:

JID Symposium Proceedings

Année:

2003

Langue:

english

Fichier:

PDF, 859 KB

english, 2003

8

An eye for an eye…. (Exodus xxi:23,24)1

Happle, Rudolf, Holubar, Karl

Journal:

The Journal of Investigative Dermatology

Année:

2003

Langue:

english

Fichier:

PDF, 323 KB

english, 2003

9

Epikutane Testung mit Natriumlaurylsulfat Nutzen und Grenzen in Forschung und Praxis

Harald Löffler, Isaak Effendy, Rudolf Happle

Journal:

Année:

1999

Langue:

german

Fichier:

PDF, 280 KB

german, 1999

10

What is a capillary malformation?

Journal:

Journal of the American Academy of Dermatology

Année:

2008

Langue:

english

Fichier:

PDF, 184 KB

english, 2008

11

Linear verrucous hemangioma

Utta Wentscher, Rudolf Happle

Journal:

Journal of the American Academy of Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 190 KB

english, 2000

12

Is the evidence for homoeopathy reproducible?

P.M. Rothwell, Jean-Jacques Aulas, Marcel-Francis Kahn, Robert Gagnon, P. van Duijn, Rudolf Happle, DavidT. Reilly, MoragA. Taylor

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 458 KB

english, 1995

13

Mosaicism in Human Skin ||

Année:

2014

Langue:

english

Fichier:

PDF, 17.97 MB

english, 2014

14

Targeting epidermal lipids for treatment of Mendelian disorders of cornification

Kiritsi, Dimitra, Schauer, Franziska, Wölfle, Ute, Valari, Manthoula, Bruckner-Tuderman, Leena, Has, Cristina, Happle, Rudolf

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 536 KB

english, 2014

15

The Essence of Alternative Medicine

Journal:

Archives of Dermatology

Année:

1998

Langue:

english

Fichier:

PDF, 176 KB

english, 1998

16

"Zosteriform" Lichen Planus: the Bizarre Consequences of a Misnomer

Journal:

Acta Dermato Venereologica

Année:

1998

Langue:

english

Fichier:

PDF, 36 KB

english, 1998

17

Goltz syndrome and PORCN : A view from Europe

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 135 KB

english, 2016

18

Segmental Hailey-Hailey disease of the vulva

García-Morales, Irene, Requena-Caballero, Luis, Happle, Rudolf, Torrelo, Antonio

Journal:

Pediatric Dermatology

Année:

2018

Langue:

english

Fichier:

PDF, 464 KB

english, 2018

19

Sparing of the nipple‐areola complex by capillary malformations: Vascular variant of the Bork–Baykal phenomenon

Knöpfel, Nicole, Theiler, Martin, Rodríguez‐Jiménez, Pedro, Happle, Rudolf, Weibel, Lisa, Torrelo, Antonio

Journal:

Pediatric Dermatology

Année:

2019

Fichier:

PDF, 447 KB

2019

20

Phacomatosis pigmentokeratotica: A melanocytic-epidermal twin nevus syndrome

Happle, Rudolf, Hoffmann, Rolf, Restano, Lucia, Caputo, Ruggero, Tadini, Gianluca

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 289 KB

english, 1996

21

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

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 144 KB

english, 1996

22

Becker nevus syndrome

Happle, Rudolf, Koopman, Roland J. J.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 175 KB

english, 1997

23

Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: A further example of twin spotting?

de las Heras, Elena, Boixeda, Juan Pablo, Ledo, Antonio, Happle, Rudolf

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 603 KB

english, 1997

24

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: A new genodermatosis?

Gilles G. Lestringant, Wolfgang Küster, Philippe M. Frossard, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

1998

Langue:

english

Fichier:

PDF, 301 KB

english, 1998

25

Dyskeratosis congenita with linear areas of severe cutaneous involvement

Baselga, Eulalia, Drolet, Beth A., van Tuinen, Peter, Esterly, Nancy B., Happle, Rudolf

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 264 KB

english, 1998

26

Becker Nevus syndrome and supernumerary nipples

Happle, Rudolf, Koopman, Roland J.J.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 21 KB

english, 1998

27

Incontinentia pigmenti versus hypomelanosis of Ito: The whys and wherefores of a confusing issue

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 38 KB

english, 1998

28

Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 188 KB

english, 1999

29

Dominant traits may give rise to paired patches of either excessive or absent involvement

Happle, Rudolf, K�nig, Arne

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 46 KB

english, 1999

30

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

Biesecker, Leslie G., Happle, Rudolf, Mulliken, John B., Weksberg, Rosanna, Graham, John M., Viljoen, Denis L., Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 396 KB

english, 1999

31

Poland anomaly may be explained as a paradominant trait

Journal:

American Journal of Medical Genetics Part A

Année:

1999

Langue:

english

Fichier:

PDF, 38 KB

english, 1999

32

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

K�nig, Arne, Happle, Rudolf, Bornholdt, Dorothea, Engel, Hartmut, Grzeschik, Karl-Heinz

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 537 KB

english, 2000

33

Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase

Rudolf Happle, Arne König, Karl-Heinz Grzeschik

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 46 KB

english, 2000

34

Nonsyndromic type of hereditary multiple basal cell carcinoma

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 65 KB

english, 2000

35

Phylloid pattern of pigmentary disturbance in a case of complex mosaicism

Thelma Ribeiro Noce, João Monteiro de Pina-Neto, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 318 KB

english, 2001

36

Large plexiform neurofibromas may be explained as a type 2 segmental manifestation of neurofibromatosis 1

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 48 KB

english, 2001

37

Pigmentary mosaicism of the hyperpigmented type in two half-brothers

Denise Horn, Rudolf Happle, Heidemarie Neitzel, Jürgen Kunze

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 162 KB

english, 2002

38

Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter

Dr. Henning Hamm, Rudolf Happle, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 483 KB

english, 1986

39

Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”

Dr. Heiko Traupe, Egon Macher, Henning Hamm, Rudolf Happle, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 402 KB

english, 1989

40

Reply: The dysplastic nevus “syndrome” is not a dichotomic, but a continuous phenotype

Heiko Traupe, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 191 KB

english, 1990

41

Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis

Dr. Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 101 KB

english, 1991

42

Psoriasis vulgaris, fetal growth, and genomic imprinting

Heiko Traupe, Petra J. M. van Gurp, Rudolf Happle, Jan Boezeman, Peter C. M. van de Kerkhof

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 564 KB

english, 1992

43

X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males

Dr. Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 107 KB

english, 1995

44

What is IFAP syndrome?

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 30 KB

english, 2004

45

Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 47 KB

english, 2004

46

Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina

Carsten H. Meyer, Pia Freyschmidt-Paul, Rudolf Happle, Peter Kroll

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 108 KB

english, 2004

47

Revertant mosaicism and retrotransposons: Another explanation of “natural gene therapy”

Mario Bittar, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 35 KB

english, 2005

48

Phacomatosis cesioflammea with unilateral lipohypoplasia

Marco Castori, Rosanna Rinaldi, Corrado Angelo, Giovanna Zambruno, Paola Grammatico, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 304 KB

english, 2008

49

Monozygotic twins discordant for Proteus syndrome

Knut Brockmann, Rudolf Happle, Frank Oeffner, Arne König

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 167 KB

english, 2008

50

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation

Alejandro García-Vargas, Christian Hafner, Adriana G. Pérez-Rodríguez, L. Ximena Rodríguez-Rojas, Pedro González-Esqueda, Robert Stoehr, Mercedes Hernández-Torres, Rudolf Happle

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 233 KB

english, 2008