Sökresultat - Dorothea Wand

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  1. 1
    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome av Michael J. B. Krieger, Andreas Roos, Claudia Stendel, Kristl G. Claeys, Fatma Müjgan Sönmez, Michael Baudis, Peter Bauer, Antje Bornemann, Christian de Goede, Andreas Dufke, Richard S. Finkel, Hans H. Goebel, Martin Häussler, Helen Kingston, Janbernd Kirschner, Līvija Medne, Petra Muschke, François Rivier, Sabine Rudnik–Schöneborn, Sabrina Spengler, Francesca Inzana, Franco Stanzial, Francesco Benedicenti, Matthis Synofzik, Ana Lía Taratuto, Laura Pirra, S K Tay, Haluk Topaloğlu, Gökhan Uyanık, Dorothea Wand, Denise Williams, Klaus Zerres, Joachim Weis, Jan Senderek

    Publicerad 2013
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  2. 2
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... av Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    Publicerad 2019
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  3. 3
    Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores

    Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores av Julie Lecarpentier, Valentina Silvestri, Karoline Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, Andrew Lee, Ali Amin Al Olama, Jonathan P. Tyrer, Melissa C. Southey, Esther M. John, Thomas Conner, David E. Goldgar, Saundra S. Buys, Ramūnas Janavičius, Linda Steele, Yuan Chun Ding, Susan L. Neuhausen, Thomas van Overeem Hansen, Ana Osório, Jeffrey N. Weitzel, Angela Toss, Veronica Medici, Laura Cortesi, Ines Zanna, Domenico Palli, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Alessandra Viel, Giulia Cini, Giuseppe Damante, Stefania Tommasi, Paolo Peterlongo, Florentia Fostira, Ute Hamann, D. Gareth Evans, Alex Henderson, Carole Brewer, Diana Eccles, Jackie Cook, Kai-Ren Ong, Lisa Walker, Lucy Side, Mary Porteous, Rosemarie Davidson, Shirley Hodgson, Debra Frost, Julian Adlard, Louise Izatt, Rosalind A. Eeles, Ian O. Ellis, Marc Tischkowitz, Andrew K. Godwin, Alfons Meindl, Andrea Gehrig, Bernd Dworniczak, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Eric Hahnen, Jan Hauke, Kerstin Rhiem, Karin Kast, Norbert Arnold, Nina Ditsch, Shan Wang‐Gohrke, Barbara Wappenschmidt, Dorothea Wand, Christine Lasset, Dominique Stoppa‐Lyonnet, Muriel Belotti, Francesca Damiola, Laure Barjhoux, Sylvie Mazoyer, Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, Kathleen Claes, Miguel de la Hoya, Vanesa Garcı́a, Miguel de la Hoya, Pedro Pérez Segura, Johanna I. Kiiski, Kristiina Aittomäki, Sofia Khan, Heli Nevanlinna, Christi J. van Asperen, Vaszko Tibor, Miklós Kásler, Edith Oláh, Judith Balmañà

    Publicerad 2017
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  4. 4
    Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

    Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 av Valentina Silvestri, Daniel Barrowdale, Anna Marie Mulligan, Susan L. Neuhausen, Stephen B. Fox, Beth Y. Karlan, Gillian Mitchell, Paul A. James, Darcy L. Thull, Kristin K. Zorn, Natalie J. Carter, Katherine L. Nathanson, Susan M. Domchek, Timothy R. Rebbeck, Susan J. Ramus, Robert L. Nussbaum, Olufunmilayo I. Olopade, Johanna Rantala, Sook-Yee Yoon, Maria A. Caligo, Laura Spugnesi, Anders Bojesen, Inge Søkilde Pedersen, Mads Thomassen, Uffe Birk Jensen, Amanda E. Toland, Leigha Senter, Irene L. Andrulis, Gord Glendon, Peter J. Hulick, Evgeny N. Imyanitov, Mark H. Greene, L. Phuong, Christian F. Singer, Christine Rappaport, Gero Kramer, Joseph Vijai, Kenneth Offit, Mark E. Robson, Anne Lincoln, Lauren Jacobs, Eva Macháčková, Lenka Foretová, Marie Navrátilová, Petra Vašíčková, Fergus J. Couch, Emily Hallberg, Kathryn J. Ruddy, Priyanka Sharma, Sung‐Won Kim, Manuel R. Teixeira, Pedro Pinto, Marco Montagna, Laura Matricardi, Aðalgeir Arason, Oskar T. Johannsson, Rósa B. Barkardóttir, Anna Jakubowska, Jan Lubiński, À. Izquierdo, Miguel Ángel Pujana, Judith Balmañà, Orland Dı́ez, Gabriella Ivády, J. Papp, Edith Oláh, Ava Kwong, Heli Nevanlinna, Kristiina Aittomäki, Pedro Pérez Segura, Miguel de la Hoya, Tom Van Maerken, Bruce Poppe, Kathleen Claes, Claudine Isaacs, Camille Elan, Christine Lasset, Dominique Stoppa‐Lyonnet, Laure Barjhoux, Muriel Belotti, Alfons Meindl, Andrea Gehrig, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Eric Hahnen, Karin Kast, Norbert Arnold, Raymonda Varon-Mateeva, Dorothea Wand, Andrew K. Godwin, D. Gareth Evans, Debra Frost, Jo Perkins, Julian Adlard, Louise Izatt, Radka Platte, Rosalind A. Eeles, Ian O. Ellis

    Publicerad 2016
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  5. 5
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability av María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    Publicerad 2024
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