Daniel F Schorderet : rechercher sur Z-Library

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1

Using OMIM (On-line Mendelian Inheritance in Man) as an expert system in medical genetics

Dr. Daniel F. Schorderet

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 636 KB

english, 1991

2

PRENATAL DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE

DANIEL F. SCHORDERET, MARCEL HUBER, RICHARD N. LAURINI, GENEVIGÈVE VON MOOS, BERNARD GIANADDA, GUY DÉLÈZE, DANIEL HOHL

Journal:

Prenatal Diagnosis

Année:

1997

Langue:

english

Fichier:

PDF, 713 KB

english, 1997

3

Identification of novel PAX6 mutations in two families with bilateral aniridia

Martin Neuner-Jehle, Francis Munier, Alexandra Kobetz, Iman Sahly, Yves Uteza, André Mermoud, Daniel F. Schorderet, Jean-Louis Dufier, Marc Abitbol

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 158 KB

english, 1998

4

Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome

Andreas Zankl, Marie-Claude Addor, Anne-Claude Gaide, Francine Thonney, Pascal Cousin, Daniel F. Schorderet, François Gudinchet, Maja Nenadov-Beck

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 151 KB

english, 2000

5

Diagnosing human malformation patterns with a microcomputer: Evaluation of two different algorithms

Dr. Daniel F. Schorderet, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 408 KB

english, 1987

6

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

David Bick, Cynthia J. R. Curry, John R. McGill, Daniel F. Schorderet, Robert C. Bux, Charleen M. Moore

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 917 KB

english, 1989

7

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

Sandrine Boutboul, Graeme C.M. Black, John E. Moore, Janet Sinton, Maurice Menasche, Francis L. Munier, Laurent Laroche, Marc Abitbol, Daniel F. Schorderet

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 204 KB

english, 2006

8

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

Daniel F. Schorderet, Pascal Escher

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 287 KB

english, 2009

9

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 182 KB

english, 2012

10

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A

Carole T. Monney, Valérie Kaltenrieder, Pascal Cousin, Christophe Bonny, Daniel F. Schorderet

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 154 KB

english, 2002

11

Novel mutations in FRMD7 in X-linked congenital nystagmus

Daniel F. Schorderet, Leila Tiab, Marie-Claire Gaillard, Birgit Lorenz, Georges Klainguti, John B. Kerrison, Elias I. Traboulsi, Francis L. Munier

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 225 KB

english, 2007

12

Structural cell-wall proteins in protoxylem development: evidence for a repair process mediated by a glycine-rich protein

Ulrich Ryser, Martine Schorderet, Gui-Fang Zhao, Daniel Studer, Katia Ruel, Gunter Haul, Beat Keller

Journal:

The Plant Journal

Année:

1997

Langue:

english

Fichier:

PDF, 29.60 MB

english, 1997

13

Eight previously unidentified mutations found in theOA1ocular albinism gene

Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherla

Journal:

BMC Medical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2006

14

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

David P. Bick, Daniel F. Schorderet, Paul A. Price, Leslie Campbell, Robert W. Huff, Larry J. Shapiro, Charleen M. Moore

Journal:

Prenatal Diagnosis

Année:

1992

Langue:

english

Fichier:

PDF, 859 KB

english, 1992

15

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

Leila El Matri, Aude Ambresin, Daniel F. Schorderet, Aki Kawasaki, Mathias W. Seeliger, Andreas Wenzel, Yvan Arsenijevic, François‐Xavier Borruat, Francis L. Munier

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Année:

2006

Langue:

english

Fichier:

PDF, 284 KB

english, 2006

16

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature

Andreas Zankl, Marie-Claude Addor, Malin Maeder-Ingvar, Daniel F. Schorderet

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 199 KB

english, 2001

17

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Zhaoxia Ren, Pei-Yu Lin, Gordon K. Klintworth, Fumino Iwata, Francis L. Munier, Daniel F. Schorderet, Leila El Matri, Veena Theendakara, Surendra Basti, Madhukar Reddy, Fielding J. Hejtmancik

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 173 KB

english, 2002

18

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

M. Hergersberg, Jaya Balakrishnan, Thomas Bettecken, Francoise Chevalier-Porst, Christian Brägger, René Burger, Inge Einschenk, Sabina Liechti-Gallati, Michael Morris, Daniel Schorderet, Francine Thon

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 42 KB

english, 1997

19

MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells

Raphaël Roduit, Daniel F. Schorderet

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 508 KB

english, 2008

20

Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors inRpe65−/−mouse model of Leber’s Congenital Amaurosis

Sandra Cottet, Daniel F. Schorderet

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 654 KB

english, 2008

21

10.1038/10379

Neufeld, Ellis J., Fleming, Judith C., Tartaglini, Elena, Steinkamp, Mara P., Schorderet, Daniel F., Cohen, Nadine

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 536 KB

english, 1999

22

Methylation Silencing and Mutations of the p14ARF and p16INK4a Genes in Colon Cancer

Burri, Nathalie, Shaw, Phillip, Bouzourene, Hanifa, Sordat, Isabelle, Sordat, Bernard, Gillet, Michel, Schorderet, Daniel, Bosman, Fred T, Chaubert, Pascal

Journal:

Laboratory Investigation

Année:

2001

Langue:

english

Fichier:

PDF, 4.84 MB

english, 2001

23

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Munier, Francis L., Korvatska, Elena, Djemaï, Assia, Paslier, Denis Le, Zografos, Leonidas, Pescia, Graziano, Schorderet, Daniel F.

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 715 KB

1997

24

The human pseudoautosomal GM–CSF receptor α subunit gene is autosomal in mouse

Disteche, Christine M., Brannan, Camilynn I., Larsen, Alf, Adler, David A., Schorderet, Daniel F., Gearing, David, Copeland, Neal G., Jenkins, Nancy A., Park, Linda S.

Journal:

Nature Genetics

Année:

1992

Fichier:

PDF, 466 KB

1992

25

A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia

Borsello, Tiziana, Clarke, Peter G H, Hirt, Lorenz, Vercelli, Alessandro, Repici, Mariaelena, Schorderet, Daniel F, Bogousslavsky, Julien, Bonny, Christophe

Journal:

Nature Medicine

Année:

2003

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2003

26

Rearrangements of minisatellites in the human telomerase reverse transcriptase gene are not correlated with its expression in colon carcinomas

Szutorisz, Henrietta, Palmqvist, Richard, Roos, Göran, Stenling, Roger, Schorderet, Daniel F, Reddel, Roger, Lingner, Joachim, Nabholz, Markus

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 388 KB

english, 2001

27

Epidermal Growth Factor Is a Neuronal Differentiation Factor for Retinal Stem Cells In Vitro

Brigitte Angénieux, Daniel F. Schorderet, Yvan Arsenijevic

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2006

28

Inactivation and reactivation of sex-linked steroid sulfatase gene in murine cell culture

Daniel F. Schorderet, Elisabeth A. Keitges, Patrice M. Dubois, Stanley M. Gartler

Journal:

Somatic Cell and Molecular Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 591 KB

english, 1988

29

Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

Zankl, Andreas, Addor, Marie-Claude, Cousin, Pascal, Gaide, Anne-Claude, Gudinchet, Fran&#x000E7, ois, Schorderet, Daniel F.

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 112 KB

english, 2001

30

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Xiaodong Jiao,Francis L. Munier,Daniel F. Schorderet,Leonidas Zografos…

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 307 KB

english, 2003

31

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2009

32

Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

Hana Abouzeid, Gaëlle Boisset, Tatiana Favez, Mohamed Youssef, Iman Marzouk, Nihal Shakankiry, Nader Bayoumi, Patrick Descombes, Céline Agosti, Francis L. Munier, Daniel F. Schorderet

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 795 KB

english, 2011

33

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish

Gaëlle Boisset, Bożena K. Polok, Daniel F. Schorderet

Journal:

Gene Expression Patterns

Année:

2008

Langue:

english

Fichier:

PDF, 4.52 MB

english, 2008

34

Distal trisomy 14 (q24 → qter) and aorto-pulmonary window: a case report and review of the literature

Yannick Perrin, Marie-Claude Addor, Nicole Sekarski, Anne-Claude Gaide, Daniel F Schorderet

Journal:

Annales de Génétique

Année:

2002

Langue:

english

Fichier:

PDF, 218 KB

english, 2002

35

5′AMP-activated protein kinase α deficiency enhances stress-induced apoptosis in BHK and PC12 cells

Margaret M. Shaw, Werner K. Gurr, Rory J. McCrimmon, Daniel F. Schorderet, Robert S. Sherwin

Journal:

Journal of Cellular and Molecular Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 981 KB

english, 2007

36

D-TAT transporter as an ocular peptide delivery system

Daniel F Schorderet, Violaine d’Allèves Manzi, Kriss Canola, Christophe Bonny, Yvan Arsenijevic, Francis L Munier, Fabienne Maurer

Journal:

Clinical & Experimental Ophthalmology

Année:

2005

Langue:

english

Fichier:

PDF, 992 KB

english, 2005

37

Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene

Daniel F. Schorderet, Maurice Menasche, Sabine Morand, Sébastien Bonnel, Valérie Büchillier, Dominique Marchant, Katya Auderset, Christophe Bonny, Marc Abitbol, Francis L. Munier

Journal:

Biochemical and Biophysical Research Communications

Année:

2000

Langue:

english

Fichier:

PDF, 651 KB

english, 2000

38

The Human TAX1 Gene Encoding the Axon-Associated Cell Adhesion Molecule TAG-1/Axonin-1: Genomic Structure and Basic Promoter

Serguei V. Kozlov, Roman J. Giger, Thomas Hasler, Elena Korvatska, Daniel F. Schorderet, Peter Sonderegger

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 131 KB

english, 1995

39

Genomic Organization, Fine-Mapping, and Expression of the HumanIslet-Brain 1 (IB1)/C-Jun-Amino-Terminal Kinase Interacting Protein-1 (JIP-1)Gene

Vincent Mooser, Anne Maillard, Christophe Bonny, Myriam Steinmann, Philipp Shaw, David P. Yarnall, Daniel K. Burns, Daniel F. Schorderet, Pascal Nicod, Gérard Waeber

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 238 KB

english, 1999

40

cDNA Cloning and Mapping of a Novel Islet-Brain/JNK-Interacting Protein

Stéphanie Negri, Anne Oberson, Myriam Steinmann, Christelle Sauser, Pascal Nicod, Gérard Waeber, Daniel F. Schorderet, Christophe Bonny

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 328 KB

english, 2000

41

Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

Daniel F. Schorderet, Olivia Nichini, Gaëlle Boisset, Bozena Polok, Leila Tiab, Hélène Mayeur, Bahija Raji, Gauillaume de la Houssaye, Marc M. Abitbol, Francis L. Munier

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 2.18 MB

english, 2008

42

Franceschetti Hereditary Recurrent Corneal Erosion

Walter Lisch, Anthony J. Bron, Francis L. Munier, Daniel F. Schorderet, Leila Tiab, Clemens Lange, Parykshit Saikia, Thomas Reinhard, Jayne S. Weiss, Enken Gundlach, Uwe Pleyer, Christina Lisch, Claud

Journal:

American Journal of Ophthalmology

Année:

2012

Langue:

english

Fichier:

PDF, 4.98 MB

english, 2012

43

Early apoptosis of rod photoreceptors in Rpe65−/− mice is associated with the upregulated expression of lysosomal-mediated autophagic genes

Sylviane Métrailler, Daniel F. Schorderet, Sandra Cottet

Journal:

Experimental Eye Research

Année:

2012

Langue:

english

Fichier:

PDF, 1.69 MB

english, 2012

44

Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye development

Olivia Nichini, Daniel F. Schorderet

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 954 KB

english, 2008

45

Conjunctivitis as a Sign of PFAPA Syndrome

Alexandros Kolokotronis, Anastasios Markopoulos, Stelios Voutas, Asimina Mataftsi, Panayotis Ikonomidis, Demetrios Antoniades, Daniel F. Schorderet

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 474 KB

english, 2007

46

A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2

Hana Abouzeid, Françoise M. Meire, Ihab Osman, Nihal ElShakankiri, Sylvain Bolay, Francis L. Munier, Daniel F. Schorderet

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2009

47

A Corneal Dystrophy Associated with Transforming Growth Factor β–Induced Gly623Asp Mutation: An Amyloidogenic Phenotype

Claudia Auw-Haedrich, Hansjürgen Agostini, Ina Clausen, Thomas Reinhard, Philipp Eberwein, Daniel F. Schorderet, Claudia Gruenauer-Kloevekorn

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2009

48

Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis

Francoise Macari, Marina Landau, Pascal Cousin, Barukh Mevorah, Sarah Brenner, Renato Panizzon, Daniel F. Schorderet, Daniel Hohl, Marcel Huber

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 569 KB

english, 2000

49

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Xiaodong Jiao, Francis L. Munier, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, June Lee, Daniel F. Schorderet, Muh-Shy Chen, Muriel Kaiser-Kupfer, J. Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 263 KB

english, 2000

50

Regulation of the JNK signaling pathway and pancreatic β-cell apoptosis by the scaffold protein islet-brain 2 (IB2)

Stéphanie S.S Negri, Anne Oberson, Myriam Steinmann, Christelle Sauser, Pascal Nicod, Gerard Waeber, Daniel Schorderet, Christophe Bonny

Journal:

Diabetes Research and Clinical Practice

Année:

2000

Langue:

english

Fichier:

PDF, 293 KB

english, 2000