S Mundlos : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (310)
Les plus populaires
Liste
- Liste
- Tableau

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:

Année:

2019

Langue:

english

Fichier:

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

Année:

2016

Langue:

english

Fichier:

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

Année:

2011

Langue:

english

Fichier:

PDF, 2.48 MB

english, 2011

4

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

Année:

2011

Langue:

english

Fichier:

PDF, 180 KB

english, 2011

5

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

Année:

2009

Langue:

english

Fichier:

PDF, 336 KB

english, 2009

6

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

Année:

2009

Langue:

english

Fichier:

PDF, 718 KB

english, 2009

7

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

Année:

2011

Langue:

english

Fichier:

PDF, 882 KB

english, 2011

8

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

Année:

2007

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2007

9

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

Année:

1992

Langue:

english

Fichier:

PDF, 20.57 MB

english, 1992

10

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

Année:

2015

Langue:

english

Fichier:

PDF, 134 KB

english, 2015

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

Année:

1997

Langue:

english

Fichier:

PDF, 1.66 MB

english, 1997

12

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:

Année:

2020

Fichier:

PDF, 38.77 MB

2020

13

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

Année:

2020

Fichier:

PDF, 1.25 MB

2020

14

An α1 II Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis

Mundlos, Stefan, Chan, Danny, McGill, Jim, Bateman, John F.

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 859 KB

1996

15

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature

Menger, H., Mundlos, S., Becker, K., Spranger, J., Zabel, B.

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 521 KB

1996

16

Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice

Lih-Fen Huang, Naomi Fukai, Paul B. Selby, Bjorn R. Olsen, Stefan Mundlos

Journal:

Developmental Dynamics

Année:

1997

Langue:

english

Fichier:

PDF, 291 KB

english, 1997

17

Mouse mutant “rib-vertebrae” (rv): A defect in somite polarity

S. Nacke, R. Schäfer, M., Hrabé De Angelis, S. Mundlos

Journal:

Developmental Dynamics

Année:

2000

Langue:

english

Fichier:

PDF, 745 KB

english, 2000

18

Developmental expression of human cartilage matrix protein

Dr. S. Mundlos, B. Zabel

Journal:

Developmental Dynamics

Année:

1994

Langue:

english

Fichier:

PDF, 2.00 MB

english, 1994

19

Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

Susann Schweiger, Rabih Chaoui, Cornelia Tennstedt, Katarina Lehmann, Stefan Mundlos, Sigrid Tinschert

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 220 KB

english, 2003

20

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Georg C. Schwabe, Seval Türkmen, Gundula Leschik, Sukru Palanduz, Brigitte Stöver, Timm O. Goecke, Stefan Mundlos

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 297 KB

english, 2004

21

Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation

Ulrike A. Nuber, Sigrid Tinschert, Stefan Mundlos, Ingrid Hauber

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 410 KB

english, 2004

22

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

A. Rajab, J. Kunze, Stefan Mundlos

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 212 KB

english, 2004

23

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

Année:

2005

Langue:

english

Fichier:

PDF, 203 KB

english, 2005

24

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

Année:

2005

Langue:

english

Fichier:

PDF, 229 KB

english, 2005

25

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

Année:

2006

Langue:

english

Fichier:

PDF, 156 KB

english, 2006

26

A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B

Marco Castori, Francesco Brancati, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 160 KB

english, 2007

27

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome

Benjamin Abo-Dalo, Hyung-Goo Kim, Melanie Roes, Margarita Stefanova, Anne Higgins, Yiping Shen, Stefan Mundlos, Bradley J. Quade, James F. Gusella, Kerstin Kutsche

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 188 KB

english, 2007

28

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Anna Rajab, U. Kornak, B. S. Budde, K. Hoffmann, J. Jaeken, P. Nürnberg, S. Mundlos

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 300 KB

english, 2008

29

Czech dysplasia: Report of a large family and further delineation of the phenotype

Andreas Tzschach, Sigrid Tinschert, Elke Kaminsky, Eugen Lusga, Stefan Mundlos, Luitgard M. Graul-Neumann

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 217 KB

english, 2008

30

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 173 KB

english, 2008

31

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

Nicola Brunetti-Pierri, Daniela del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott, Stefan Mundlos, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 365 KB

english, 2008

32

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

William G. Newman, Jill Clayton-Smith, Kay Metcalfe, Rachel Cole, Marco Tartaglia, Francesco Brancati, Sara Morara, Antonio Novelli, Xiangdong Liu, Katherine A. Siminovitch, Stefan Mundlos, May Tassab

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 125 KB

english, 2008

33

A novel subtype of distal symphalangism affecting only the 4th finger

Klaus W. Kjaer, Mehmet Tiner, Sultan Cingoz, Vasfi Karatosun, Niels Tommerup, Stefan Mundlos, Izge Gunal

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 165 KB

english, 2009

34

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

Année:

2010

Langue:

english

Fichier:

PDF, 247 KB

english, 2010

35

Brachydactyly type A1 with short humerus and associated skeletal features

Didier Lacombe, Marie-Ange Delrue, Caroline Rooryck, Fanny Morice-Picard, Benoît Arveiler, Brigitte Maugey-Laulom, Stefan Mundlos, Annick Toutain, Jean-François Chateil

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 229 KB

english, 2010

36

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene

Patrick Rump, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz, Stefan Mundlos, Eva Klopocki, Rob B. van der Luijt

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 473 KB

english, 2011

37

Über die Umsetzung von β-Keto-carbonsäure-estern und β-Diketonen mit α-halogenierten Thioäthern

Horst Böhme, Eberhard Mundlos

Journal:

European Journal of Inorganic Chemistry

Année:

1953

Langue:

german

Fichier:

PDF, 425 KB

german, 1953

38

Über die Umsetzung von Acetyl-schwefelchlorid mit Ketonen und β-Dicarbonylverbindungen

Horst Böhme, Fritz Freimuth, Eberhard Mundlos

Journal:

European Journal of Inorganic Chemistry

Année:

1954

Langue:

german

Fichier:

PDF, 487 KB

german, 1954

39

Über α-Azido-äther

Horst Böhme, Dieter Morf, Eberhard Mundlos

Journal:

European Journal of Inorganic Chemistry

Année:

1956

Langue:

german

Fichier:

PDF, 276 KB

german, 1956

40

Über Umsetzungen α-Halogenierter Amine in Analogie zu Reaktionen von Diazoniumsalzen

Horst Böhme, Eberhard Mundlos, Walter Lehners, Otto-Erich Herboth

Journal:

European Journal of Inorganic Chemistry

Année:

1957

Langue:

german

Fichier:

PDF, 330 KB

german, 1957

41

Über Darstellung und Eigenschaften α-Halogenierter Amine

Horst Böhme, Eberhard Mundlos, Otto-Erich Herboth

Journal:

European Journal of Inorganic Chemistry

Année:

1957

Langue:

german

Fichier:

PDF, 343 KB

german, 1957

42

Über α-halogenierte Amine, IV. Aminomethylierung CH-acider Verbindungen mit α-halogenierten Aminen

Horst Böhme, Eberhard Mundlos, Günter Keitzer

Journal:

European Journal of Inorganic Chemistry

Année:

1958

Langue:

german

Fichier:

PDF, 231 KB

german, 1958

43

Darstellung und Umsetzungen der 2-Amino- äthylthioschwefelsäure

Kurt Schimmelschmidt, Hermann Hoffmann, Eberhard Mundlos

Journal:

European Journal of Inorganic Chemistry

Année:

1963

Langue:

german

Fichier:

PDF, 621 KB

german, 1963

44

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

Année:

2004

Langue:

english

Fichier:

PDF, 469 KB

english, 2004

45

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome

Sigmar Stricker, Nicole Verhey Van Wijk, Florian Witte, Norbert Brieske, Kathrin Seidel, Stefan Mundlos

Journal:

Developmental Dynamics

Année:

2006

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2006

46

Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development

Andreas Ratzka, Ina Kalus, Markus Moser, Thomas Dierks, Stefan Mundlos, Andrea Vortkamp

Journal:

Developmental Dynamics

Année:

2008

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2008

47

Expression patterns of sulfatase genes in the developing mouse embryo

Andreas Ratzka, Stefan Mundlos, Andrea Vortkamp

Journal:

Developmental Dynamics

Année:

2010

Langue:

english

Fichier:

PDF, 6.85 MB

english, 2010

48

Mechanisms of digit formation: Human malformation syndromes tell the story

Sigmar Stricker, Stefan Mundlos

Journal:

Developmental Dynamics

Année:

2011

Langue:

english

Fichier:

PDF, 837 KB

english, 2011

49

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Florian Otto, Hirokazu Kanegane, Stefan Mundlos

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 340 KB

english, 2002

50

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