Mundlos, S: search on Z-Library

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1

The single-cell transcriptional landscape of mammalian organogenesis

Cao, Junyue, Spielmann, Malte, Qiu, Xiaojie, Huang, Xingfan, Ibrahim, Daniel M., Hill, Andrew J., Zhang, Fan, Mundlos, Stefan, Christiansen, Lena, Steemers, Frank J., Trapnell, Cole, Shendure, Jay

Journal:

Year:

2019

Language:

english

File:

PDF, 26.30 MB

english, 2019

2

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

Mackenroth, Luisa, Fischer-Zirnsak, Björn, Egerer, Johannes, Hecht, Jochen, Kallinich, Tilmann, Stenzel, Werner, Spors, Birgit, von Moers, Arpad, Mundlos, Stefan, Kornak, Uwe, Gerhold, Kerstin, Horn,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

3

The organization of the osteocyte network mirrors the extracellular matrix orientation in bone

Michael Kerschnitzki, Wolfgang Wagermaier, Paul Roschger, Jong Seto, Ron Shahar, Georg N. Duda, Stefan Mundlos, Peter Fratzl

Journal:

Journal of Structural Biology

Year:

2011

Language:

english

File:

PDF, 2.48 MB

english, 2011

4

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease

Basu, Shaon, Mackowiak, Sebastian D., Niskanen, Henri, Knezevic, Dora, Asimi, Vahid, Grosswendt, Stefanie, Geertsema, Hylkje, Ali, Salaheddine, JerkoviÄ, Ivana, Ewers, Helge, Mundlos, Stefan, Meissne

Journal:

Year:

2020

File:

PDF, 38.77 MB

2020

5

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ãgnes, KÃ¶lbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, HÃ¼bner, Christoph, Mundlos, Ste

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.25 MB

2020

6

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, Luisa, Cormier-Daire, Valerie, Hall, Christine, Lachman, Ralph, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Spranger, Jürgen, Superti-

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 134 KB

english, 2015

7

Nosology and classification of genetic skeletal disorders: 2010 revision

Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savari

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

8

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Seifert, Wenke, Beninde, Julia, Hoffmann, Katrin, Lindner, Tom H, Bassir, Christian, Aksu, Fuat, Hübner, Christoph, Verbeek, Nienke E, Mundlos, Stefan, Horn, Denise

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

9

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E. Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 718 KB

english, 2009

10

Multiple roles for neurofibromin in skeletal development and growth

Kolanczyk, M., Kossler, N., Kuhnisch, J., Lavitas, L., Stricker, S., Wilkening, U., Manjubala, I., Fratzl, P., Sporle, R., Herrmann, B. G., Parada, L. F., Kornak, U., Mundlos, S.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.22 MB

english, 2007

11

Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.

Mundlos, S, Olsen, B R

Journal:

The FASEB Journal

Year:

1997

Language:

english

File:

PDF, 1.66 MB

english, 1997

12

Distribution of osteonectin mRNA and protein during human embryonic and fetal development.

Mundlos, S., Schwahn, B., Reichert, T., Zabel, B.

Journal:

Journal of Histochemistry & Cytochemistry

Year:

1992

Language:

english

File:

PDF, 20.57 MB

english, 1992

13

Neurofibromin (Nf1) is required for skeletal muscle development

Kossler, N., Stricker, S., Rodelsperger, C., Robinson, P. N., Kim, J., Dietrich, C., Osswald, M., Kuhnisch, J., Stevenson, D. A., Braun, T., Mundlos, S., Kolanczyk, M.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 882 KB

english, 2011

14

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

Eva Klopocki, Britta Fiebig, Peter Robinson, Holger Tönnies, Fikret Erdogan, Hans-Hilger Ropers, Stefan Mundlos, Reinhard Ullmann

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 156 KB

english, 2006

15

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

16

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

17

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

18

Fracture healing in the NF1flox/Floxprx1cre mouse – perception into pseudarthrosis in neurofibromatosis 1

T.N. El Khassawna, I. Schroeder, M. Mehta, J.-E. Hoffmann, H. Schell, J. Lienau, M. Kolanczyk, S. Mundlos, G. duda, D. Toben, I. Schroeder, M. Mehta, J.E. Hoffmann, H. Schell, J. Lienau, M. Kolanczyk,

Journal:

Year:

2010

Language:

english

File:

PDF, 64 KB

english, 2010

19

TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell-Related Pathology

Dziubianau, M., Hecht, J., Kuchenbecker, L., Sattler, A., Stervbo, U., Rödelsperger, C., Nickel, P., Neumann, A. U., Robinson, P. N., Mundlos, S., Volk, H.-D., Thiel, A., Reinke, P., Babel, N.

Journal:

American Journal of Transplantation

Year:

2013

Language:

english

File:

PDF, 284 KB

english, 2013

20

Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A

Kuss, Pia, Kraft, Katerina, Stumm, Jürgen, Ibrahim, Daniel, Vallecillo-Garcia, Pedro, Mundlos, Stefan, Stricker, Sigmar

Journal:

Developmental Biology

Year:

2014

Language:

english

File:

PDF, 3.75 MB

english, 2014

21

Expression Patterns of Matrix Genes During Human Skeletal Development

Mundlos, Stefan

Journal:

Progress in Histochemistry and Cytochemistry

Year:

1994

Language:

english

File:

PDF, 15.07 MB

english, 1994

22

Limb Malformations || Short Rib-Polydactyly Syndromes

Mundlos, Stefan, Horn, Denise

Year:

2014

Language:

english

File:

PDF, 242 KB

english, 2014

23

Up-regulation of RUNX2 in acute myeloid leukemia in a patient with an inherent RUNX2 haploinsufficiency and cleidocranial dysplasia

Schnerch, Dominik, Lausch, Ekkehart, Becker, Heiko, Felthaus, Julia, Pfeifer, Dietmar, Mundlos, Stefan, Engelhardt, Monika, Schwabe, Michael, Wäsch, Ralph

Journal:

Leukemia and Lymphoma

Year:

2014

Language:

english

File:

PDF, 498 KB

english, 2014

24

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

Ramesar, R S, Greenberg, J, Martin, R, Goliath, R, Bardien, S, Mundlos, S, Beighton, P

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 991 KB

english, 1996

25

Limb Malformations ||

Mundlos, Stefan, Horn, Denise

Year:

2014

Language:

english

File:

PDF, 17.68 MB

english, 2014

26

Statistik I und II für Volkswirte, Betriebswirte und Soziologenby Erhard Schaich; Dieter Köhle; Walter Schweitzer; Fritz Wegner

Review by: Bernd Mundlos

Journal:

Zeitschrift für die gesamte Staatswissenschaft / Journal of Institutional and Theoretical Economics

Year:

1977

Language:

german

File:

PDF, 305 KB

german, 1977

27

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 224 KB

english, 2017

28

Response to Peron et al.

Kragesteen, Bjørt K, Duboule, Denis, Mundlos, Stefan, Spielmann, Malte

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 73 KB

english, 2018

29

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

Fatih Tufan, Kivanc Cefle, Seval Türkmen, Aydin Türkmen, Unal Zorba, Memduh Dursun, Sükrü Oztürk, Sükrü Palandüz, Tevfik Ecder, Stefan Mundlos, Denise Horn

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

30

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

Anna Rajab, K. Hoffmann, A. Ganesh, A.U. Sethu, S. Mundlos

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 203 KB

english, 2005

31

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Piranit N. Kantaputra, Stefan Mundlos, Warissara Sripathomsawat

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

32

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Georg C. Schwabe, Britta Trepczik, Kathrin Süring, Norbert Brieske, Abigail S. Tucker, Paul T. Sharpe, Yasuhiro Minami, Stefan Mundlos

Journal:

Developmental Dynamics

Year:

2004

Language:

english

File:

PDF, 469 KB

english, 2004

33

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

34

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

35

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

36

The other trinucleotide repeat: polyalanine expansion disorders

Andrea Albrecht, Stefan Mundlos

Journal:

Current Opinion in Genetics & Development

Year:

2005

Language:

english

File:

PDF, 291 KB

english, 2005

37

MiR-497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling

Grünhagen, Johannes, Bhushan, Raghu, Degenkolbe, Elisa, Jäger, Marten, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N, Ott, Claus-Eric

Journal:

Journal of Bone and Mineral Research

Year:

2015

Language:

english

File:

PDF, 2.04 MB

english, 2015

38

Limb Malformations || Nager Syndrome

Mundlos, Stefan, Horn, Denise

Year:

2014

Language:

english

File:

PDF, 201 KB

english, 2014

39

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

Rolvien, T., Kornak, U., Stürznickel, J., Schinke, T., Amling, M., Mundlos, S., Oheim, R.

Journal:

Osteoporosis International

Year:

2017

Language:

english

File:

PDF, 2.52 MB

english, 2017

40

MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3′ UTR and Coding-Sequence Binding Sites

Ott, Claus Eric, Grünhagen, Johannes, Jäger, Marten, Horbelt, Daniel, Schwill, Simon, Kallenbach, Klaus, Guo, Gao, Manke, Thomas, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N., Zhou, Zhongjun

Journal:

Year:

2011

Language:

english

File:

PDF, 539 KB

english, 2011

41

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

42

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

43

Humangenetik in der Medizin

K. Vetter, W. Jonat, S. Mundlos

Journal:

Der Gynäkologe

Year:

2011

Language:

german

File:

PDF, 189 KB

german, 2011

44

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

I. Quack, B. Vonderstrass, M. Stock, AS Aylsworth, A. Becker, L. Brueton, PJ Lee, F. Majewski, JB Mulliken, M. Suri, M. Zenker, S. Mundlos, F. Otto

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 355 KB

english, 1999

45

Clinical Exome/Genome Reports-Announcement

Hayden, Michael R., Pena, Sergio, Mundlos, Stefan

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 466 KB

english, 2015

46

Expression of Type XXIII Collagen mRNA and Protein

Koch, M., Veit, G., Stricker, S., Bhatt, P., Kutsch, S., Zhou, P., Reinders, E., Hahn, R. A., Song, R., Burgeson, R. E., Gerecke, D. R., Mundlos, S., Gordon, M. K.

Journal:

Journal of Biological Chemistry

Year:

2006

Language:

english

File:

PDF, 1.28 MB

english, 2006

47

Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment

Guo, G., Booms, P., Halushka, M., Dietz, H. C., Ney, A., Stricker, S., Hecht, J., Mundlos, S., Robinson, P. N.

Journal:

Year:

2006

Language:

english

File:

PDF, 508 KB

english, 2006

48

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Flottmann, R., Wagner, J., Kobus, K., Curry, C. J., Savarirayan, R., Nishimura, G., Yasui, N., Spranger, J., Van Esch, H., Lyons, M. J., DuPont, B. R., Dwivedi, A., Klopocki, E., Horn, D., Mundlos, S.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

49

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 653 KB

english, 2012

50

The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface

Seifert, Wenke, Posor, York, Schu, Peter, Stenbeck, Gudrun, Mundlos, Stefan, Klaassen, Sabine, Nürnberg, Peter, Haucke, Volker, Kornak, Uwe, Kühnisch, Jirko

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.73 MB

english, 2016

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