Celine Huber : rechercher sur Z-Library

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1

Eye Tracking as a Debriefing Tool in Upset Prevention and Recovery Training (UPRT) for General Aviation Pilots

Ryffel, Chiara P., Muehlethaler, Celine M., Huber, Sandro M., Elfering, Achim

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 662 KB

english, 2018

2

The 3M syndrome

Céline Huber, Arnold Munnich, Valerie Cormier-Daire

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 298 KB

english, 2011

3

Mutations in SNRPB , Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Bacrot, Séverine, Doyard, Mathilde, Huber, Céline, Alibeu, Olivier, Feldhahn, Niklas, Lehalle, Daphné, Lacombe, Didier, Marlin, Sandrine, Nitschke, Patrick, Petit, Florence, Vazquez, Marie-Paule, Munn

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 465 KB

english, 2015

4

Synthesis of Imidazolo-Piperidinopentoses as Nagstatine Analogues

François Gessier, Théophile Tschamber, Céline Tarnus, Markus Neuburger, Walter Huber, Jacques Streith

Journal:

European Journal of Organic Chemistry

Année:

2001

Langue:

english

Fichier:

PDF, 625 KB

english, 2001

5

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

Valérie Cormier-Daire, Céline Huber, Arnold Munnich

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 101 KB

english, 2001

6

A new osteogenesis imperfecta with improvement over time maps to 11q

Agnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, Georges Finidori, Arnold Munnich, Valérie Cormier-Daire, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 241 KB

english, 2008

7

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 232 KB

english, 2010

8

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 68 KB

english, 2011

9

ChemInform Abstract: Carbohydrate Transition State Mimics. Part 1. Synthesis of Imidazolo-Piperidinopentoses as Nagstatine Analogues.

Francois Gessier, Theophile Tschamber, Celine Tarnus, Markus Neuburger, Walter Huber, Jacques Streith

Journal:

Année:

2002

Fichier:

PDF, 25 KB

2002

10

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Celine Huber, Mélanie Fradin, Thomas Edouard, Martine Le Merrer, Yasemin Alanay, Daniela Bezerra Da Silva, Albert David, Hanan Hamamy, Liselotte van Hest, Allan M. Lund, Jacques Michaud, Christine Ole

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 274 KB

english, 2010

11

Cell uptake of a biosensor detected by hyperpolarized 129Xe NMR: The transferrin case

Céline Boutin, Antoine Stopin, Fatimazohra Lenda, Thierry Brotin, Jean-Pierre Dutasta, Nadège Jamin, Alain Sanson, Yves Boulard, François Leteurtre, Gaspard Huber, Aurore Bogaert-Buchmann, Nawal Tassa

Journal:

Bioorganic & Medicinal Chemistry

Année:

2011

Langue:

english

Fichier:

PDF, 702 KB

english, 2011

12

Genetic homogeneity of the Camurati–Engelmann disease

Ana Belinda Cf Xavier, Jorge M Saraiva, Martine Le Merrer, Nathalie Dagoneau, Céline Huber, Clotilde Penet, Arnold Munnich, Valérie Cormier-Daire

Journal:

Clinical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 163 KB

english, 2000

13

Severe, atypical form of dyschondrosteosis (report of two cases)

Tadeusz Bieganski, Krzysztof Bik, Valerie Cormier-Daire, Celine Huber, Grzegorz Nowicki, Kazimierz Kozlowski

Journal:

European Journal of Pediatrics

Année:

2005

Langue:

english

Fichier:

PDF, 350 KB

english, 2005

14

DigiSwitch: A Device to Allow Older Adults to Monitor and Direct the Collection and Transmission of Health Information Collected at Home

Kelly E. Caine, Celine Y. Zimmerman, Zachary Schall-Zimmerman, William R. Hazlewood, L. Jean Camp, Katherine H. Connelly, Lesa L. Huber, Kalpana Shankar

Journal:

Journal of Medical Systems

Année:

2011

Langue:

english

Fichier:

PDF, 566 KB

english, 2011

15

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Huber, Céline, Delezoide, Anee-Lise, Guimiot, Fabien, Baumann, Clarisse, Malan, Valérie, Le Merrer, Martine, Da Silva, Daniela Bezerra, Bonneau, Dominique, Chatelain, Pierre, Chu, Carol

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 203 KB

english, 2008

16

Identification of mutations in CUL7 in 3-M syndrome

Huber, Céline, Dias-Santagata, Dora, Glaser, Anna, O'Sullivan, James, Brauner, Raja, Wu, Kenneth, Xu, Xinsong, Pearce, Kerra, Wang, Rong, Uzielli, Maria Luisa Giovannucci

Journal:

Nature Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 334 KB

english, 2005

17

Ciliary disorder of the skeleton

Celine Huber, Valerie Cormier-Daire

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 198 KB

english, 2012

18

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y. Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yi

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 315 KB

english, 2012

19

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide,

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 925 KB

english, 2009

20

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine L

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 979 KB

english, 2009

21

IMPAD1 mutations in two Catel-Manzke like patients

Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, Pelin Ozlem Simsek Kiper, David Geneviève, David Sillence, Celine Huber, Arnold Munnich, Prof. Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 143 KB

english, 2012

22

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fon

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2004

23

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormie

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 784 KB

english, 2004

24

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Sara Benito-Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza-Carmona, John A. Crolla, Vivienne Maloney, Jesús Argente, Ángel Campos-Barros, Valérie Cormier-Daire, Karen E. He

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 826 KB

english, 2005

25

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

Sara Benito-Sanz, Darya Gorbenko del Blanco, Céline Huber, N. Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Ángel Campos-Barros, Karen E. Heat

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 567 KB

english, 2006

26

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 939 KB

english, 2014

27

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Debo

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 781 KB

english, 2013

28

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 310 KB

english, 2013

29

SEMA3A Signaling Controls Layer-Specific Interneuron Branching in the Cerebellum

Cioni, Jean-Michel, Telley, Ludovic, Saywell, Véronique, Cadilhac, Christelle, Jourdan, Carole, Huber, Andrea B., Huang, Josh Z., Jahannault-Talignani, Céline, Ango, Fabrice

Journal:

Current Biology

Année:

2013

Langue:

english

Fichier:

PDF, 2.32 MB

english, 2013

30

Probing the Hydrophobic Cavity of Lipid Transfer Protein from Nicotiana t abacum through Xenon-Based NMR Spectroscopy

Dubois, Lionel, Da Silva, Pedro, Landon, Céline, Huber, J. Gaspard, Ponchet, Michel, Vovelle, Françoise, Berthault, Patrick, Desvaux, Hervé

Journal:

Journal of the American Chemical Society

Année:

2004

Langue:

english

Fichier:

PDF, 379 KB

english, 2004

31

The Annexin A3−Membrane Interaction Is Modulated by an N-Terminal Tryptophan †

Hofmann, Andreas, Raguénès-Nicol, Céline, Favier-Perron, Béatrice, Mesonero, Jose, Huber, Robert, Russo-Marie, Françoise, Lewit-Bentley, Anita

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 215 KB

english, 2000

32

Design, Synthesis, and Conformational Analysis of a Novel Macrocyclic HIV-Protease Inhibitor

Podlogar, Brent L., Farr, Robert A., Friedrich, Dirk, Tarnus, Celine, Huber, Edward W., Cregge, Robert J., Schirlin, Daniel

Journal:

Journal of Medicinal Chemistry

Année:

1994

Langue:

english

Fichier:

PDF, 1.17 MB

english, 1994

33

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

Unal, Sule, Alanay, Yasemin, Cetin, Mualla, Boduroglu, Koray, Utine, Eda, Cormier-Daire, Valerie, Huber, Celine, Ozsurekci, Yasemin, Kilic, Esra, Simsek Kiper, Ozlem Pelin, Gumruk, Fatma

Journal:

Pediatric Blood & Cancer

Année:

2014

Langue:

english

Fichier:

PDF, 74 KB

english, 2014

34

Impairments in an early stage of the decision-making process in patients with ventromedial prefrontal damage: preliminary results

Eggen, Céline, Huber, Oswald, Bär, Arlette, Huber, Odilo W., Perrig, Walter J., Müri, René, Gutbrod, Klemens

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 334 KB

english, 2015

35

Hip dislocation in 3-M syndrome

Badina, Alina, Pejin, Zagorka, Odent, Thierry, Buzescu, Alexandru, Huber, Céline, Cormier-Daire, Valérie, Glorion, Christophe, Pannier, Stéphanie

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 137 KB

english, 2011

36

Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis

Salmon-Musial, Anne-Sophie, Rosilio, Myriam, David, Michel, Huber, Céline, Pichot, Emmanuel, Cormier-Daire, Valérie, Nicolino, Marc

Journal:

Hormone Research in Paediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 168 KB

english, 2011

37

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar,

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2015

38

[ACM Press the ACM international conference - Arlington, Virginia, USA (2010.11.11-2010.11.12)] Proceedings of the ACM international conference on Health informatics - IHI '10 - DigiSwitch

Caine, Kelly E., Zimmerman, Celine Y., Schall-Zimmerman, Zachary, Hazlewood, William R., Sulgrove, Alexander C., Camp, L. Jean, Connelly, Katherine H., Huber, Lesa L., Shankar, Kalpana

Année:

2010

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2010

39

Feasibility of cardiopulmonary exercise testing and training using a robotics-assisted tilt table in dependent-ambulatory stroke patients

Saengsuwan, Jittima, Huber, Celine, Schreiber, Jonathan, Schuster-Amft, Corina, Nef, Tobias, Hunt, Kenneth J.

Journal:

Journal of NeuroEngineering and Rehabilitation

Année:

2015

Langue:

english

Fichier:

PDF, 904 KB

english, 2015

40

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteb

Journal:

Nature Communications

Année:

2015

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2015

41

Genotypes and Phenotypes of Children with SHOX Deficiency in France

Rosilio, Myriam, Huber-Lequesne, Céline, Sapin, Hélène, Carel, Jean-Claude, Blum, Werner F., Cormier-Daire, Valérie

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 211 KB

english, 2012

42

A Mutation of Ikbkg Causes Immune Deficiency without Impairing Degradation of lkBα

Owen M. Siggs, Michael Berger, Philippe Krebs, Carrie N. Arnold, Celine Eidenschenk, Christoph Huber, Elaine Pirie, Nora G. Smart, Kevin Khovananth, Yu Xia, Gerald McInerney, Gunilla B. Karlsson Hedes

Journal:

Proceedings of the National Academy of Sciences

Année:

2010

Langue:

english

Fichier:

PDF, 1.37 MB

english, 2010

43

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar,

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 58 KB

english, 2015

44

Reconstructing Phylogenetic Level-1 Networks from Nondense Binet and Trinet Sets

Huber, Katharina T., van Iersel, Leo, Moulton, Vincent, Scornavacca, Celine, Wu, Taoyang

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1007 KB

english, 2017

45

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Benito-Sanz, Sara, Belinchon-Martínez, Alberta, Aza-Carmona, Miriam, de la Torre, Carolina, Huber, Celine, González-Casado, Isabel, Ross, Judith L, Thomas, N Simon, Zinn, Andrew R, Cormier-Daire, Vale

Journal:

Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2016

46

Dual Function of NRP1 in Axon Guidance and Subcellular Target Recognition in Cerebellum

Telley, Ludovic, Cadilhac, Christelle, Cioni, Jean-Michel, Saywell, Veronique, Jahannault-Talignani, Céline, Huettl, Rosa E., Sarrailh-Faivre, Catherine, Dayer, Alexandre, Huber, Andrea B., Ango, Fabr

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 7.71 MB

english, 2016

47

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Ranza, Emmanuelle, Huber, Céline, Levin, Nicolas, Baujat, Geneviève, Bole-Feysot, Christine, Nitschke, Patrick, Masson, Cécile, Alanay, Yasemin, Al-Gazali, Lihadh, Bitoun, Pierre, Boute, Odile, Campea

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2016

48

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteb

Journal:

Nature Communications

Année:

2016

Langue:

english

Fichier:

PDF, 131 KB

english, 2016

49

Ureterocystoneostomy in complex oncological cases with an “Uebelhoer” modified Boari bladder flap

Radtke, Jan P., Korzeniewski, Nina, Huber, Johannes, Alt, Celine D., Pahernik, Sascha, Hadaschik, Boris A., Hohenfellner, Markus, Teber, Dogu

Journal:

Langenbeck's Archives of Surgery

Année:

2017

Langue:

english

Fichier:

PDF, 612 KB

english, 2017

50

Dinuclear complexes formed by hydrogen bonds: synthesis, structure and magnetic and electrochemical properties.

Williams, Alan Francis, Granelli, Matteo, Downward, Alan M, Huber, Robin, Guenée, Laure, Besnard, Céline, Krämer, Karl W, Decurtins, Silvio, Liu, Shi-Xia, Thompson, Laurence K

Journal:

Chemistry - A European Journal

Année:

2017

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2017