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There are 28520 results for: content related to: Jagged1 ( JAG1 ) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

  1. 3-acetylpyridine-induced degeneration in the adult ascidian neural complex: Reactive and regenerative changes in glia and blood cells

    Developmental Neurobiology

    Bianca N. S. P. Medina, Isadora Santos de Abreu, Leny A. Cavalcante, Wagner A. B. Silva, Rodrigo N. da Fonseca, Silvana Allodi and Cintia M. de Barros

    Article first published online : 11 DEC 2014, DOI: 10.1002/dneu.22255

  2. Use of a new wireless transducer for femoral venous vascular cannulation

    Journal of Clinical Ultrasound

    Daniel Rodríguez Muñoz, David del val Martin, Sara Fernández Santos, Teresa Segura de la Cal, Alejandra Carbonell San Román, Javier Moreno Planas and José Luis Zamorano Gómez

    Article first published online : 13 DEC 2014, DOI: 10.1002/jcu.22255

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    Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Article first published online : 1 MAY 2014, DOI: 10.1002/humu.22554

  4. Surgical Treatment of Sinuses by Deroofing in Hidradenitis Suppurativa

    Dermatologic Surgery

    Volume 38, Issue 3, March 2012, Pages: 494–497, Simone van Hattem, Julia R. Spoo, Barbara Horváth, Marcel F. Jonkman and Fredrik W.J. Leeman

    Article first published online : 30 DEC 2011, DOI: 10.1111/j.1524-4725.2011.02255.x

  5. Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 809–813, Paige E. Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, Gijs van Haaften, Bregje W. van Bon, Alexander Hoischen and Colin G. Nichols

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22555

  6. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 868–879, Phillipa J. Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Alexandru C. Barboi, Carsten Bonneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Y.K. Van den Bergh, Juan J. Vilchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige and Nigel G. Laing

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22553

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    Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 859–867, Carl Schubert, Anders Pryds, Shemin Zeng, Yajing Xie, K. Bailey Freund, Richard F. Spaide, John C. Merriam, Irene Barbazetto, Jason S. Slakter, Stanley Chang, Inger C. Munch, Arlene V. Drack, Jasmine Hernandez, Suzanne Yzer, Joanna E. Merriam, Allan Linneberg, Michael Larsen, Lawrence A. Yannuzzi, Robert F. Mullins and Rando Allikmets

    Article first published online : 10 JUN 2014, DOI: 10.1002/humu.22551

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    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 409–410, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 7 JAN 2013, DOI: 10.1002/humu.22256

    This article corrects:

    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Vol. 34, Issue 1, 167–175, Article first published online: 11 OCT 2012

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    Dimensions of manic symptoms in youth: psychosocial impairment and cognitive performance in the IMAGEN sample

    Journal of Child Psychology and Psychiatry

    Volume 55, Issue 12, December 2014, Pages: 1380–1389, Argyris Stringaris, Natalie Castellanos-Ryan, Tobias Banaschewski, Gareth J. Barker, Arun L. Bokde, Uli Bromberg, Christian Büchel, Mira Fauth-Bühler, Herta Flor, Vincent Frouin, Juergen Gallinat, Hugh Garavan, Penny Gowland, Andreas Heinz, Bernd Itterman, Claire Lawrence, Frauke Nees, Marie-Laure Paillere-Martinot, Tomas Paus, Zdenka Pausova, Marcella Rietschel, Michael N. Smolka, Gunter Schumann, Robert Goodman, Patricia Conrod and the Imagen Consortium

    Article first published online : 28 MAY 2014, DOI: 10.1111/jcpp.12255

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    Comparison of Clinical Trial Outcome Patterns in Patients Following Acute Coronary Syndromes and in Patients With Chronic Stable Atherosclerosis

    Clinical Cardiology

    Volume 37, Issue 6, June 2014, Pages: 337–342, Kenneth W. Mahaffey, Daniel M. Wojdyla, Karen S. Pieper, Pierluigi Tricoci, John H. Alexander, A. Michael Lincoff, Danielle M. Brennan, Deepak L. Bhatt, Lars Wallentin and Robert A. Harrington

    Article first published online : 25 FEB 2014, DOI: 10.1002/clc.22255

  11. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22550

  12. LOOKING UNDER THE HOOD OF THE DOT-PROBE TASK: AN fMRI STUDY IN ANXIOUS YOUTH

    Depression and Anxiety

    Volume 31, Issue 3, March 2014, Pages: 178–187, Rebecca B. Price, Greg J. Siegle, Jennifer S. Silk, Cecile D. Ladouceur, Ashley McFarland, Ronald E. Dahl and Neal D. Ryan

    Article first published online : 27 FEB 2014, DOI: 10.1002/da.22255

  13. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 446–452, Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, Jose E. Abdenur, Raymond Y. Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto and Naomichi Matsumoto

    Article first published online : 29 JAN 2013, DOI: 10.1002/humu.22257

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    Medial prefrontal theta phase coupling during spatial memory retrieval

    Hippocampus

    Volume 24, Issue 6, June 2014, Pages: 656–665, Raphael Kaplan, Daniel Bush, Mathilde Bonnefond, Peter A. Bandettini, Gareth R. Barnes, Christian F. Doeller and Neil Burgess

    Article first published online : 18 FEB 2014, DOI: 10.1002/hipo.22255

  15. Efficacy and safety of hexaminolevulinate photodynamic therapy in patients with low-grade cervical intraepithelial neoplasia

    Lasers in Surgery and Medicine

    Volume 46, Issue 6, August 2014, Pages: 456–461, Peter Hillemanns, Karl-Ulrich Petry, Philipp Soergel, Pierre Collinet, Katty Ardaens, Julia Gallwas, Alexander Luyten and Christian Dannecker

    Article first published online : 6 MAY 2014, DOI: 10.1002/lsm.22255

  16. Normalization of cerebral vasoreactivity using BOLD MRI after intravascular stenting

    Human Brain Mapping

    Volume 35, Issue 4, April 2014, Pages: 1320–1324, Arnaud Attyé, Marjorie Villien, Florence Tahon, Jan Warnking, Olivier Detante and Alexandre Krainik

    Article first published online : 21 FEB 2013, DOI: 10.1002/hbm.22255

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    A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 363–373, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G. Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez-Valle, Albert Llado, Anna Antonell, Jose Molinuevo , Ellen Gelpi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson-Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G. Kovacs, Thomas Ströbel, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer;, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cras and on behalf of the European Early-Onset Dementia (EOD) Consortium

    Article first published online : 4 JAN 2013, DOI: 10.1002/humu.22244

  18. Drastic Effect of Germline TP53 Missense Mutations in Li–Fraumeni Patients

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 453–461, Yasmine Zerdoumi, Juliette Aury-Landas, Catherine Bonaïti-Pellié, Céline Derambure, Richard Sesboüé, Mariette Renaux-Petel, Thierry Frebourg, Gaëlle Bougeard and Jean-Michel Flaman

    Article first published online : 11 FEB 2013, DOI: 10.1002/humu.22254

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    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Article first published online : 2 NOV 2012, DOI: 10.1002/humu.22225

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    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 1021–1032, Kaye N. Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz M. Achakzai, Maria J. Anjos, Qasim Ayub, Jože Balažic, Jack Ballantyne, David J. Ballard, Burkhard Berger, Cecilia Bobillo, Mehdi Bouabdellah, Helen Burri, Tomas Capal, Stefano Caratti, Jorge Cárdenas, François Cartault, Elizeu F. Carvalho, Monica Carvalho, Baowen Cheng, Michael D. Coble, David Comas, Daniel Corach, Maria E. D'Amato, Sean Davison, Peter de Knijff, Maria Corazon A. De Ungria, Ronny Decorte, Tadeusz Dobosz, Berit M. Dupuy, Samir Elmrghni, Mateusz Gliwiński, Sara C. Gomes, Laurens Grol, Cordula Haas, Erin Hanson, Jürgen Henke, Lotte Henke, Fabiola Herrera-Rodríguez, Carolyn R. Hill, Gunilla Holmlund, Katsuya Honda, Uta-Dorothee Immel, Shota Inokuchi, Mark A. Jobling, Mahmoud Kaddura, Jong S. Kim, Soon H. Kim, Wook Kim, Turi E. King, Eva Klausriegler, Daniel Kling, Lejla Kovačević, Leda Kovatsi, Paweł Krajewski, Sergey Kravchenko, Maarten H. D. Larmuseau, Eun Young Lee, Ruediger Lessig, Ludmila A. Livshits, Damir Marjanović, Marek Minarik, Natsuko Mizuno, Helena Moreira, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nie, Premlaphat Nilasitsataporn, Takeki Nishi, Hye H. Oh, Jill Olofsson, Valerio Onofri, Jukka U. Palo, Horolma Pamjav, Walther Parson, Michal Petlach, Christopher Phillips, Rafal Ploski, Samayamantri P. R. Prasad, Dragan Primorac, Gludhug A. Purnomo, Josephine Purps, Hector Rangel-Villalobos, Krzysztof Rębała, Budsaba Rerkamnuaychoke, Danel Rey Gonzalez, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila, Andrea Sala, Jazelyn M. Salvador, Paula Sanz, Cornelia Schmitt, Anil K. Sharma, Dayse A. Silva, Kyoung-Jin Shin, Titia Sijen, Miriam Sirker, Daniela Siváková, Vedrana Škaro, Carlos Solano-Matamoros, Luis Souto, Vlastimil Stenzl, Herawati Sudoyo, Denise Syndercombe-Court, Adriano Tagliabracci, Duncan Taylor, Andreas Tillmar, Iosif S. Tsybovsky, Chris Tyler-Smith, Kristiaan J. van der Gaag, Daniel Vanek, Antónia Völgyi, Denise Ward, Patricia Willemse, Eric P.H. Yap, Rita Y.Y. Yong, Irena Zupanič Pajnič and Manfred Kayser

    Article first published online : 14 JUL 2014, DOI: 10.1002/humu.22599