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51

Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain

Jae-Hwan Jeong, Jung-Sook Jin, Hyun-Nam Kim, Sang-Min Kang, Julie C. Liu, Christopher J. Lengner, Florian Otto, Stefan Mundlos, Janet L. Stein, Andre J. van Wijnen, Jane B. Lian, Gary S. Stein, Je-Yon

Journal:

Journal of Cellular Physiology

Year:

2008

Language:

english

File:

PDF, 302 KB

english, 2008

52

Umsetzung von Keten mit Sulfonylisocyanaten

Eberhard Mundlos, Roderich Graf

Journal:

European Journal of Organic Chemistry

Year:

1964

Language:

german

File:

PDF, 260 KB

german, 1964

53

Biaxial cell stimulation: A mechanical validation

F.H. Bieler, C.E. Ott, M.S. Thompson, R. Seidel, S. Ahrens, D.R. Epari, U. Wilkening, K.D. Schaser, S. Mundlos, G.N. Duda

Journal:

Journal of Biomechanics

Year:

2009

Language:

english

File:

PDF, 330 KB

english, 2009

54

Dysplasie cléidocrânienne chez une femme et ses deux enfants

Ömer Nuri Pamuk, Stefan Mundlos, Necati Çakir

Journal:

Revue du Rhumatisme

Year:

2008

Language:

french

File:

PDF, 295 KB

french, 2008

55

Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study

Thompson, M., Ott, C.-E., Ahrens, S., Kornak, U., Mundlos, S., Duda, G.

Journal:

Journal of Biomechanics

Year:

2006

Language:

english

File:

PDF, 160 KB

english, 2006

56

BIAXIAL CELL STIMULATION: MECHANICAL VALIDATION AND BIOLOGICAL RESPONSE

Friederike H. Bleckwehl, Claus-Eric Ott, Mark S. Thompson, Susan Ahrens, Robin Seidel, Stephan Mundlos, Georg N. Duda

Journal:

Journal of Biomechanics

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

57

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

Isao Oishi, Hiroaki Suzuki, Nobuyuki Onishi, Ritsuko Takada, Shuichi Kani, Bisei Ohkawara, Ikue Koshida, Kentaro Suzuki, General Yamada, Georg C. Schwabe, Stefan Mundlos, Hiroshi Shibuya, Shinji Takad

Journal:

Year:

2003

Language:

english

File:

PDF, 290 KB

english, 2003

58

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Marten Jäger, Claus-Eric Ott, Johannes Grünhagen, Jochen Hecht, Hanna Schell, Stefan Mundlos, Georg N Duda, Peter N Robinson, Jasmin Lienau

Journal:

Year:

2011

Language:

english

File:

PDF, 1.40 MB

english, 2011

59

Osteopoikilosis and multiple exostoses caused by novel mutations inLEMD3andEXT1genes respectively - coincidence within one family

Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.38 MB

english, 2010

60

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

Karim D. Kalache, Katarina Lehmann, Rabih Chaoui, Dietmar E. Kivelitz, Stefan Mundlos, Rainer Bollmann

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 208 KB

english, 2002

61

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

Year:

1994

Language:

english

File:

PDF, 1.29 MB

english, 1994

62

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

Year:

1994

Language:

english

File:

PDF, 1.95 MB

english, 1994

63

Sibs with a disorder resembling Blount disease (tibia vara)

H. Schmidt, S. Mundlos, J. W. Spranger

Journal:

Pediatric Radiology

Year:

1991

Language:

english

File:

PDF, 705 KB

english, 1991

64

IstConchorhynchusein ceratiten-kiefer ?

Journal:

Paläontologische Zeitschrift

Year:

1973

Language:

german

File:

PDF, 449 KB

german, 1973

65

Klinische Variabilität bei Mutationen imp63-Gen

K. Lehmann, S. Tinschert, G. Leschik, D. Wahl, S. Mundlos

Journal:

Monatsschrift Kinderheilkunde

Year:

2005

Language:

german

File:

PDF, 873 KB

german, 2005

66

Humangenetik in der Medizin

K. Vetter, W. Jonat, S. Mundlos

Journal:

Der Gynäkologe

Year:

2011

Language:

german

File:

PDF, 189 KB

german, 2011

67

An unusual combination of EEC syndrome and hypomelanosis Ito due to ap63mutation

Katarina Lehmann, Stefan Mundlos, Peter Meinecke

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 198 KB

english, 2005

68

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Eva Klopocki, Luitgard M. Graul-Neumann, Ulrike Grieben, Holger Tönnies, Hans-Hilger Ropers, Denise Horn, Stefan Mundlos, Reinhard Ullmann

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 216 KB

english, 2008

69

Mutation analysis ofBRCA1andBRCA2genes in Iranian high risk breast cancer families

Andrea Pietschmann, Parvin Mehdipour, Parvin Mehdipour, Morteza Atri, Wera Hofmann, S. Said Hosseini-Asl, Siegfried Scherneck, Stefan Mundlos, Hartmut Peters

Journal:

Journal of Cancer Research and Clinical Oncology

Year:

2005

Language:

english

File:

PDF, 324 KB

english, 2005

70

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

Patrick Booms, Reinhard Pregla, Andreas Ney, Frank Barthel, Dieter P. Reinhardt, Angelika Pletschacher, Stefan Mundlos, Peter N. Robinson

Journal:

Year:

2005

Language:

english

File:

PDF, 382 KB

english, 2005

71

Neue Wege in der bioinformatischen Phänotypanalyse

S.C. Doelken, S. Köhler, S. Bauer, C.-E. Ott, P. Krawitz, D. Horn, S. Mundlos, P.N. Robinson

Journal:

medizinische genetik

Year:

2010

Language:

german

File:

PDF, 747 KB

german, 2010

72

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

Thomas Sander, Mohammad Reza Toliat, Armin Heils, Gundula Leschik, Christian Becker, Franz Rüschendorf, Klaus Rohde, Stefan Mundlos, Peter Nürnberg

Journal:

Epilepsy Research

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

73

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2

Marei Sammar, Sigmar Stricker, Georg C. Schwabe, Christina Sieber, Anke Hartung, Michael Hanke, Isao Oishi, Jens Pohl, Yasuhiro Minami, Walter Sebald, Stefan Mundlos, Petra Knaus

Journal:

Year:

2004

Language:

english

File:

PDF, 428 KB

english, 2004

74

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

E Steichen-Gersdorf, I Gaßner, A Superti-Furga, R Ullmann, S Stricker, E Klopocki, S Mundlos

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

75

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3

B Tuysuz, S Mizumoto, K Sugahara, A Çelebi, S Mundlos, S Turkmen

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 378 KB

english, 2009

76

The brachydactylies: a molecular disease family

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 846 KB

english, 2009

77

The Human Phenotype Ontology

PN Robinson, S Mundlos

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 1.50 MB

english, 2010

78

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

PN Robinson, P Krawitz, S Mundlos

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 534 KB

english, 2011

79

Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter

Turk, E., Zabel, B., Mundlos, S., Dyer, J., Wright, E. M.

Journal:

Year:

1991

File:

PDF, 411 KB

1991

80

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

Humphrey, N, Mundlos, S, Türkmen, S, Hoffmann, K, Demirhan, Osman, Aruoba, Defne

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 189 KB

english, 2008

81

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 305 KB

english, 2010

82

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range

Gao, Bo, Hu, Jianxin, Stricker, Sigmar, Cheung, Martin, Ma, Gang, Law, Kit Fong, Witte, Florian, Briscoe, James, Mundlos, Stefan, He, Lin

Journal:

Year:

2009

Language:

english

File:

PDF, 874 KB

english, 2009

83

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

Year:

1993

File:

PDF, 410 KB

1993

84

Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

Klopocki, Eva, Neumann, Luitgard M, Tönnies, Holger, Ropers, Hans-Hilger, Mundlos, Stefan, Ullmann, Reinhard

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 180 KB

english, 2006

85

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2

Lehmann, Katarina, Seemann, Petra, Boergermann, Jan, Morin, Gilles, Reif, Silke, Knaus, Petra, Mundlos, Stefan

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

86

A complex phenotype with cystic renal disease

Müller, D, Klopocki, E, Neumann, L M, Mundlos, S, Taupitz, M, Schulze, I, Ropers, H-H, Querfeld, U, Ullmann, R

Journal:

Kidney International

Year:

2006

Language:

english

File:

PDF, 200 KB

english, 2006

87

Promiscuous and Depolarization-Induced Immediate-Early Response Genes Are Induced by Mechanical Strain of Osteoblasts

Claus-Eric Ott, Sebastian Bauer, Thomas Manke, Susan Ahrens, Christian Rödelsperger, Johannes Grünhagen, Uwe Kornak, Georg Duda, Stefan Mundlos, Peter N Robinson

Journal:

Journal of Bone and Mineral Research

Year:

2009

Language:

english

File:

PDF, 1.79 MB

english, 2009

88

Eine Axiomatik für Preisindizes in Funktionalform — gleichzeitig eine Kritik der Kritik an DIVISIA-Indizes

Journal:

Statistical Papers

Year:

1982

Language:

german

File:

PDF, 639 KB

german, 1982

89

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia

Morava, &#x000C9, va, K&#x000E1, rteszi, Judit, Weisenbach, J&#x000E1, nos, Caliebe, Almuth, Mundlos, Stefan, M&#x000E9, hes, K&#x000E1, roly

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 264 KB

english, 2002

90

Severe cleidocranial dysplasia can mimic hypophosphatasia

Unger, Sheila, Mornet, Etienne, Mundlos, Stefan, Blaser, Susan, Cole, David

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 259 KB

english, 2002

91

Das 2q37-Deletionssyndrom

P. Villavicencio-Lorini, E. Klopocki, L. Pfeiffer, S. Mundlos, D. Horn

Journal:

medizinische genetik

Year:

2012

Language:

german

File:

PDF, 739 KB

german, 2012

92

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 428 KB

english, 2008

93

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 990 KB

english, 2009

94

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline Blom, Yves Gillerot, Johannes F.W. Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 492 KB

english, 2010

95

Wnt-ligand-dependent interaction of TAK1 (TGF-β-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling

Andreas Winkel, Sigmar Stricker, Przemko Tylzanowski, Virginia Seiffart, Stefan Mundlos, Gerhard Gross, Andrea Hoffmann

Journal:

Cellular Signalling

Year:

2008

Language:

english

File:

PDF, 1.73 MB

english, 2008

96

Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation

Florian Witte, Janine Dokas, Franziska Neuendorf, Stefan Mundlos, Sigmar Stricker

Journal:

Gene Expression Patterns

Year:

2009

Language:

english

File:

PDF, 3.88 MB

english, 2009

97

Cleidocranial dysplasia in a mother and her two children

Ömer Nuri Pamuk, Stefan Mundlos, Necati Çakir

Journal:

Joint Bone Spine

Year:

2008

Language:

english

File:

PDF, 223 KB

english, 2008

98

Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development

Sigmar Stricker, Norbert Brieske, Julia Haupt, Stefan Mundlos

Journal:

Gene Expression Patterns

Year:

2006

Language:

english

File:

PDF, 878 KB

english, 2006

99

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model

J. Hecht, V. Seitz, M. Urban, F. Wagner, P.N. Robinson, A. Stiege, C. Dieterich, U. Kornak, U. Wilkening, N. Brieske, C. Zwingman, A. Kidess, S. Stricker, S. Mundlos

Journal:

Gene Expression Patterns

Year:

2007

Language:

english

File:

PDF, 1.59 MB

english, 2007

100

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

Jochen Hecht, Heiner Kuhl, Stefan A Haas, Sebastian Bauer, Albert J Poustka, Jasmin Lienau, Hanna Schell, Asita C Stiege, Volkhard Seitz, Richard Reinhardt, Georg N Duda, Stefan Mundlos, Peter N Robin

Journal:

Year:

2006

Language:

english

File:

PDF, 605 KB

english, 2006