Winterpacht, A. : rechercher sur Z-Library

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1

Hypochondroplasie, Achondroplasie und thanatophore Dysplasie als Folge von Mutationen des Fibroblastenwachstumsfaktorrezeptor-3-Gens (FGFR3)

M. Hilbert, K. Hilbert, J. Spranger, G. Wildhardt, A. Winterpacht, C. Wüchner, B. Zabel

Journal:

Monatsschrift Kinderheilkunde

Année:

1998

Langue:

german

Fichier:

PDF, 553 KB

german, 1998

2

Two different PAX3 gene mutations causing Waardenburg syndrome type I

G. Wildhardt, A. Winterpacht, K. Hilbert, H. Menger, B. Zabel

Journal:

Molecular and Cellular Probes

Année:

1996

Langue:

english

Fichier:

PDF, 86 KB

english, 1996

3

The chromatin remodeling factor SPOC1 acts as a cellular restriction factor against human cytomegalovirus by repressing the major immediate-early promoter

Reichel, Anna, Stilp, Anne-Charlotte, Scherer, Myriam, Reuter, Nina, Lukassen, Sören, Kasmapour, Bahram, Schreiner, Sabrina, Cicin-Sain, Luka, Winterpacht, Andreas, Stamminger, Thomas

Journal:

Journal of Virology

Année:

2018

Langue:

english

Fichier:

PDF, 4.17 MB

english, 2018

4

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

Zabel, Bernhard, Hilbert, Katja, Stöß, Hartmut, Superti-Furga, Andrea, Spranger, Jürgen, Winterpacht, Andreas

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 669 KB

1996

5

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect

Spranger, Jürgen, Winterpacht, Andreas, Zabel, Bernhard

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 535 KB

english, 1997

6

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Pihlajamaa, Tero, Prockop, Darwin J., Faber, J�rg, Winterpacht, Andreas, Zabel, Bernhard, Giedion, Andres, Wiesbauer, Peter, Spranger, J�rgen, Ala-Kokko, Leena

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 161 KB

english, 1998

7

New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

Joachim Pohlenz, Winfried Schönberger, Heike Wemme, Andreas Winterpacht, Stefan Wirth, Bernhard Zabel

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 225 KB

english, 1996

8

Ten novel mutations found in aniridia

Matthias T. F. Wolf, B Lorenz, A Winterpacht, M Drechsler, V Schumacher, B Royer-Pokora, A Blankenagel, B Zabel, G Wildhardt

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 450 KB

english, 1998

9

Novel WT1 mutation, 11p LOH, and t(7;12) (p22;q22) chromosomal translocation identified in a Wilms Tumor Case

Ralf W. Löbbert, Gabi Klemm, Hans-Peter Grüttner, Dieter Harms, Andreas Winterpacht, Bernhard U. Zabel

Journal:

Genes, Chromosomes and Cancer

Année:

1998

Langue:

english

Fichier:

PDF, 98 KB

english, 1998

10

Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation

Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze, Stefan Mundlos, Jürgen Spranger, Bernhard Zabel

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 523 KB

english, 1994

11

High post surgical opioid requirements in Crohn’s disease are not due to a general change in pain sensitivity

Kathrin Huehne, Stefan Leis, Tino Muenster, Andreas Wehrfritz, Stefanie Winter, Christian Maihöfner, Thomas Foertsch, Roland Croner, André Reis, Andreas Winterpacht, Bernd Rautenstrauss

Journal:

European Journal of Pain

Année:

2009

Langue:

english

Fichier:

PDF, 313 KB

english, 2009

12

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

Andreas Winterpacht, Katja Hilbert, Ulrike Schwarze, Bernhard Zabel

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 570 KB

english, 1995

13

Ehlers-Danlos syndrome type VII: phenotype and genotype

H. W. Lehmann, S. Mundlos, A. Winterpacht, R. E. Brenner, B. Zabel, P. K. Müller

Journal:

Archives of Dermatological Research

Année:

1994

Langue:

english

Fichier:

PDF, 1.29 MB

english, 1994

14

The type II collagenopathies: A spectrum of chondrodysplasias

J. Spranger, A. Winterpacht, B. Zabel

Journal:

European Journal of Pediatrics

Année:

1994

Langue:

english

Fichier:

PDF, 2.42 MB

english, 1994

15

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

J. Spranger, H. Menger, S. Mundlos, A. Winterpacht, B. Zabel

Journal:

Pediatric Radiology

Année:

1994

Langue:

english

Fichier:

PDF, 1.95 MB

english, 1994

16

Cloning, characterization, and chromosomal assignment of the human ortholog of murineZfp-37,a candidate gene for Nager syndrome

Sandra D. Dreyer, Lei Zhou, Mirta A. Machado, William A. Horton, Bernhard Zabel, Andreas Winterpacht, Brendan Lee

Journal:

Mammalian Genome

Année:

1998

Langue:

english

Fichier:

PDF, 110 KB

english, 1998

17

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

Christiane Wüchner, Katja Hilbert, Bernhard Zabel, A. Winterpacht

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 44 KB

english, 1997

18

C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development

Sabine Endele, Claudia Nelkenbrecher, Annegret Bördlein, Stefanie Schlickum, Andreas Winterpacht

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 770 KB

english, 2011

19

Renal phenotype in heterozygousLmx1bknockout mice (Lmx1b+/−) after unilateral nephrectomy

Sabine Endele, Sabine Klein, Sabine Richter, Tina Molter, Kerstin Amann, Bernd Klanke, Ralph Witzgall, Randy L. Johnson, Karl F. Hilgers, Andreas Winterpacht

Journal:

Transgenic Research

Année:

2007

Langue:

english

Fichier:

PDF, 269 KB

english, 2007

20

10.1038/84853

Morello, Roy, Zhou, Guang, Dreyer, Sandra D., Harvey, Scott J., Ninomiya, Yoshifumi, Thorner, Paul S., Miner, Jeffrey H., Cole, William, Winterpacht, Andreas, Zabel, Bernhard, Oberg, Kerby C., Lee, Br

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 3.14 MB

english, 2001

21

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Winterpacht, Andreas, Hilbert, Matthias, Schwarze, Ulrike, Mundlos, Stefan, Spranger, Jürgen, Zabel, Bernhard U.

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 410 KB

1993

22

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Dreyer, Sandra D., Zhou, Guang, Baldini, Antonio, Winterpacht, Andreas, Zabel, Bernhard, Cole, William, Johnson, Randy L., Lee, Brendan

Journal:

Nature Genetics

Année:

1998

Fichier:

PDF, 480 KB

1998

23

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Poustka, Annemarie, Winterpacht, Andreas, Zabel, Bernhard, Dittrich, Bärbel, Buiting, Karin, Korn, Bernd, Rickard, Sarah, Buxton, Jessica, Saitoh, Shinji, Nicholls, Robert D.

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 1.04 MB

1996

24

Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets

Sandra D. Dreyer, Takuji Naruse, Roy Morello, Bernhard Zabel, Andreas Winterpacht, Randy L. Johnson, Brendan Lee, Kerby C. Oberg

Journal:

Gene Expression Patterns

Année:

2004

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2004

25

P250 CONFIRMATION OF MATN3 (MATRILIN-3) SEQUENCE VARIATION (P.T303M) AS A RISK FACTOR FOR HAND OSTEOARTHRITIS

O. Pullig, A. Tagariello, A. Schweizer, A. Winterpacht, P. Schaller, B. Swoboda

Journal:

Osteoarthritis and Cartilage

Année:

2006

Langue:

english

Fichier:

PDF, 38 KB

english, 2006

26

An Ordered NotI Fragment Map of Human Chromosome Band 11p15

M.J. Higgins, N.J. Smilinich, S. Sait, A. Koenig, J. Pongratz, M. Gessler, C.W. Richard III, M.R. James, J.P. Sanford, B.-W. Kim, J. Cattelane, N.J. Nowak, A. Winterpacht, B.U. Zabel, D.J. Munroe, E.

Journal:

Année:

1994

Fichier:

PDF, 898 KB

1994

27

Assignment of the Human Diacylglycerol Kinase 4 (DAGK4) Gene to Chromosome 4p16.3

Sabine Endele, Bernhard Zabel, Andreas Winterpacht

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 98 KB

english, 1996

28

Molecular Cloning and Chromosomal Assignment of the Human Homologue of the Rat cGMP-Inhibited Phosphodiesterase 1 (PDE3A)—A Gene Involved in Fat Metabolism Located at 11p15.1

Ralf W. Löbbert, Andreas Winterpacht, Barbara Seipel, Bernhard U. Zabel

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 852 KB

english, 1996

29

Functional Characterization of Human Nucleosome Assembly Protein-2 (NAP1L4) Suggests a Role as a Histone Chaperone

Pedro Rodriguez, David Munroe, Dirk Prawitt, Lee Lee Chu, Eva Bric, Jungho Kim, Laura H. Reid, Chris Davies, Hitoshi Nakagama, Ralf Loebbert, Andreas Winterpacht, Mary-Jane Petruzzi, Michael J. Higgin

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 814 KB

english, 1997

30

Cloning and Characterization of a Novel Gene (TM7SF1) Encoding a Putative Seven-Pass Transmembrane Protein That Is Upregulated during Kidney Development

Christian Spangenberg, Andreas Winterpacht, Bernhard U. Zabel, Ralf W. Löbbert

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 643 KB

english, 1998

31

Divergently Transcribed Overlapping Genes Expressed in Liver and Kidney and Located in the 11p15.5 Imprinted Domain

Paul R. Cooper, Nancy J. Smilinich, Colleen D. Day, Norma J. Nowak, Laura H. Reid, R.Scott Pearsall, Mark Reece, Dirk Prawitt, John Landers, David E. Housman, Andreas Winterpacht, Bernhard U. Zabel, J

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 1.50 MB

english, 1998

32

Isolation, Characterization, and Mapping of a Zinc Finger Gene, ZFP95, Containing Both a SCAN Box and an Alternatively Spliced KRAB A Domain

Sandra D. Dreyer, Qiping Zheng, Bernhard Zabel, Andreas Winterpacht, Brendan Lee

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 81 KB

english, 1999

33

Mtr1, a Novel Biallelically Expressed Gene in the Center of the Mouse Distal Chromosome 7 Imprinting Cluster, is a Member of the Trp Gene Family

Thorsten Enklaar, Marion Eßwein, Monika Oswald, Katja Hilbert, Andreas Winterpacht, Michael Higgins, Bernhard Zabel, Dirk Prawitt

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 376 KB

english, 2000

34

Expression profiling of human fetal growth plate cartilage by EST sequencing

Andreas Tagariello, Silke Schlaubitz, Thomas Hankeln, Gerrit Mohrmann, Christiane Stelzer, Anja Schweizer, Pia Hermanns, Brendan Lee, Erwin R. Schmidt, Andreas Winterpacht, Bernhard Zabel

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 149 KB

english, 2005

35

Ucma — A novel secreted factor represents a highly specific marker for distal chondrocytes

Andreas Tagariello, Julia Luther, Melanie Streiter, Lydia Didt-Koziel, Manuela Wuelling, Cordula Surmann-Schmitt, Michael Stock, Nadia Adam, Andrea Vortkamp, Andreas Winterpacht

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 4.29 MB

english, 2008

36

Ucmaa (Grp-2) is required for zebrafish skeletal development. Evidence for a functional role of its glutamate γ-carboxylation

Cristian Dan Neacsu, Melanie Grosch, Mercedes Tejada, Andreas Winterpacht, Mats Paulsson, Raimund Wagener, Andreas Tagariello

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2011

37

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

Kathrin Huehne, Ute Schaal, Stefan Leis, Steffen Uebe, M. Florencia Gosso, Arn M.J.M. van den Maagdenberg, Christian Maihöfner, Frank Birklein, Bernd Rautenstrauss, Andreas Winterpacht

Journal:

Neuroscience Letters

Année:

2010

Langue:

english

Fichier:

PDF, 367 KB

english, 2010

38

LETM1, a gene deleted in Wolf–Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

Stephanie Schlickum, Abhay Moghekar, Jeremy C. Simpson, Cordula Steglich, Richard J. O'Brien, Andreas Winterpacht, Sabine U. Endele

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 339 KB

english, 2004

39

Use of the polymerase chain reaction to demonstrate hepatitis B virus DNA in serum of children with chronic hepatitis B

Stefan Wirth, Ulrike Möllers, Klaus-Michael Keller, Andreas Winterpacht

Journal:

The Journal of Pediatrics

Année:

1992

Langue:

english

Fichier:

PDF, 258 KB

english, 1992

40

A novel myosin heavy chain gene in human chromosome 19q13.3

Alejandro Leal, Sabine Endele, Corinna Stengel, Kathrin Huehne, Joachim Loetterle, Ramiro Barrantes, Andreas Winterpacht, Bernd Rautenstrauss

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 793 KB

english, 2003

41

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Iain McIntosh, Sandra D. Dreyer, Mark V. Clough, Jennifer A. Dunston, Wafa'a Eyaid, Carmen M. Roig, Tara Montgomery, Sirpa Ala-Mello, Ilkka Kaitila, Andreas Winterpacht, Bernhard Zabel, Moshe Frydman,

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 293 KB

english, 1998

42

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

Martin Zenker, Anita Rauch, Andreas Winterpacht, Andreas Tagariello, Cornelia Kraus, Thomas Rupprecht, Heinrich Sticht, André Reis

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 506 KB

english, 2004

43

LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients

Sabine Endele, Monika Fuhry, Sang-Jin Pak, Bernhard U. Zabel, Andreas Winterpacht

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 193 KB

english, 1999

44

Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1)

Cichutek, A., Brueckmann, T., Seipel, B., Hauser, H., Schlaubitz, S., Prawitt, D., Hankeln, T., Schmidt, E.R., Winterpacht, A., Zabel, B.U.

Journal:

Cytogenetic and Genome Research

Année:

2001

Langue:

english

Fichier:

PDF, 339 KB

english, 2001

45

Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7

Amid, C., Bahr, A., Mujica, A., Sampson, N., Bikar, S.-E., Winterpacht, A., Zabel, B., Hankeln, T., Schmidt, E.R.

Journal:

Cytogenetic and Genome Research

Année:

2001

Langue:

english

Fichier:

PDF, 343 KB

english, 2001

46

Specific skeletal dysplasias due to type II procollagen gene (COL2A1) defects

Winterpacht, A., Schwarze, U., Menger, H., Mundlos, S., Spranger, J., Zabel, B.

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 99 KB

english, 1994

47

Grebe Dysplasia And The Spectrum Of CDMP1 Mutations

Stelzer, Christiane, Winterpacht, Andreas, Spranger, Jürgen, Zabel, Bernhard

Journal:

Fetal and Pediatric Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 2.82 MB

english, 2003

48

Kniest Dysplasia: Clinical, Pathologic, and Molecular Findings in a Severely Affected Patient–And Review of the Literature

Faber, J., Winterpacht, A., Zabel, B., Eich, G., Spycher, M. A., Briner, J., Giunta, C., Superti-Furga, A., Steinmann, B.

Journal:

Fetal and Pediatric Pathology

Année:

1998

Langue:

english

Fichier:

PDF, 3.21 MB

english, 1998

49

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

Gohring, I., Tagariello, A., Endele, S., Stolt, C. C., Ghassibe, M., Fisher, M., Thiel, C. T., Trautmann, U., Vikkula, M., Winterpacht, A., FitzPatrick, D. R., Rauch, A.

Journal:

Journal of Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 2.05 MB

english, 2010

50

Phenotypic variability in patients with generalised resistance to thyroid hormone.

Pohlenz, J, Wirth, S, Winterpacht, A, Wemme, H, Zabel, B, Schonberger, W

Journal:

Journal of Medical Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 492 KB

english, 1995