Juliane Ramser

Juliane Ramser

UNVERIFIED PROFILE

Are you Juliane Ramser?   Register this Author

Register author
Juliane Ramser

Juliane Ramser

Publications by authors named "Juliane Ramser"

Are you Juliane Ramser?   Register this Author

23Publications

803Reads

13Profile Views

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Identification of brain- and bone-specific breast cancer metastasis genes.

Cancer Lett 2009 Apr 27;276(2):212-20. Epub 2008 Dec 27.

Institute of Molecular Biology and Bioinformatics, Charité, Campus Benjamin Franklin, Arnimalle 22, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canlet.2008.11.017DOI Listing
April 2009

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Eur J Hum Genet 2007 Jan 11;15(1):29-34. Epub 2006 Oct 11.

Unidad de Genética, Hospital Universitario La Fe, Departamento de Genética, Universidad de Valencia, Valencia, Spain.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201717
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201717DOI Listing
January 2007

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus.

Mamm Genome 2005 Dec 8;16(12):934-41. Epub 2005 Dec 8.

Genome Analysis, Institute of Molecular Biotechnology, Beutenbergstr. 11, 07745, Jena, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00335-005-0090-3DOI Listing
December 2005

The DNA sequence of the human X chromosome.

Authors:
Mark T Ross Darren V Grafham Alison J Coffey Steven Scherer Kirsten McLay Donna Muzny Matthias Platzer Gareth R Howell Christine Burrows Christine P Bird Adam Frankish Frances L Lovell Kevin L Howe Jennifer L Ashurst Robert S Fulton Ralf Sudbrak Gaiping Wen Matthew C Jones Matthew E Hurles T Daniel Andrews Carol E Scott Stephen Searle Juliane Ramser Adam Whittaker Rebecca Deadman Nigel P Carter Sarah E Hunt Rui Chen Andrew Cree Preethi Gunaratne Paul Havlak Anne Hodgson Michael L Metzker Stephen Richards Graham Scott David Steffen Erica Sodergren David A Wheeler Kim C Worley Rachael Ainscough Kerrie D Ambrose M Ali Ansari-Lari Swaroop Aradhya Robert I S Ashwell Anne K Babbage Claire L Bagguley Andrea Ballabio Ruby Banerjee Gary E Barker Karen F Barlow Ian P Barrett Karen N Bates David M Beare Helen Beasley Oliver Beasley Alfred Beck Graeme Bethel Karin Blechschmidt Nicola Brady Sarah Bray-Allen Anne M Bridgeman Andrew J Brown Mary J Brown David Bonnin Elspeth A Bruford Christian Buhay Paula Burch Deborah Burford Joanne Burgess Wayne Burrill John Burton Jackie M Bye Carol Carder Laura Carrel Joseph Chako Joanne C Chapman Dean Chavez Ellson Chen Guan Chen Yuan Chen Zhijian Chen Craig Chinault Alfredo Ciccodicola Sue Y Clark Graham Clarke Chris M Clee Sheila Clegg Kerstin Clerc-Blankenburg Karen Clifford Vicky Cobley Charlotte G Cole Jen S Conquer Nicole Corby Richard E Connor Robert David Joy Davies Clay Davis John Davis Oliver Delgado Denise Deshazo Pawandeep Dhami Yan Ding Huyen Dinh Steve Dodsworth Heather Draper Shannon Dugan-Rocha Andrew Dunham Matthew Dunn K James Durbin Ireena Dutta Tamsin Eades Matthew Ellwood Alexandra Emery-Cohen Helen Errington Kathryn L Evans Louisa Faulkner Fiona Francis John Frankland Audrey E Fraser Petra Galgoczy James Gilbert Rachel Gill Gernot Glöckner Simon G Gregory Susan Gribble Coline Griffiths Russell Grocock Yanghong Gu Rhian Gwilliam Cerissa Hamilton Elizabeth A Hart Alicia Hawes Paul D Heath Katja Heitmann Steffen Hennig Judith Hernandez Bernd Hinzmann Sarah Ho Michael Hoffs Phillip J Howden Elizabeth J Huckle Jennifer Hume Paul J Hunt Adrienne R Hunt Judith Isherwood Leni Jacob David Johnson Sally Jones Pieter J de Jong Shirin S Joseph Stephen Keenan Susan Kelly Joanne K Kershaw Ziad Khan Petra Kioschis Sven Klages Andrew J Knights Anna Kosiura Christie Kovar-Smith Gavin K Laird Cordelia Langford Stephanie Lawlor Margaret Leversha Lora Lewis Wen Liu Christine Lloyd David M Lloyd Hermela Loulseged Jane E Loveland Jamieson D Lovell Ryan Lozado Jing Lu Rachael Lyne Jie Ma Manjula Maheshwari Lucy H Matthews Jennifer McDowall Stuart McLaren Amanda McMurray Patrick Meidl Thomas Meitinger Sarah Milne George Miner Shailesh L Mistry Margaret Morgan Sidney Morris Ines Müller James C Mullikin Ngoc Nguyen Gabriele Nordsiek Gerald Nyakatura Christopher N O'Dell Geoffery Okwuonu Sophie Palmer Richard Pandian David Parker Julia Parrish Shiran Pasternak Dina Patel Alex V Pearce Danita M Pearson Sarah E Pelan Lesette Perez Keith M Porter Yvonne Ramsey Kathrin Reichwald Susan Rhodes Kerry A Ridler David Schlessinger Mary G Schueler Harminder K Sehra Charles Shaw-Smith Hua Shen Elizabeth M Sheridan Ratna Shownkeen Carl D Skuce Michelle L Smith Elizabeth C Sotheran Helen E Steingruber Charles A Steward Roy Storey R Mark Swann David Swarbreck Paul E Tabor Stefan Taudien Tineace Taylor Brian Teague Karen Thomas Andrea Thorpe Kirsten Timms Alan Tracey Steve Trevanion Anthony C Tromans Michele d'Urso Daniel Verduzco Donna Villasana Lenee Waldron Melanie Wall Qiaoyan Wang James Warren Georgina L Warry Xuehong Wei Anthony West Siobhan L Whitehead Mathew N Whiteley Jane E Wilkinson David L Willey Gabrielle Williams Leanne Williams Angela Williamson Helen Williamson Laurens Wilming Rebecca L Woodmansey Paul W Wray Jennifer Yen Jingkun Zhang Jianling Zhou Huda Zoghbi Sara Zorilla David Buck Richard Reinhardt Annemarie Poustka André Rosenthal Hans Lehrach Alfons Meindl Patrick J Minx Ladeana W Hillier Huntington F Willard Richard K Wilson Robert H Waterston Catherine M Rice Mark Vaudin Alan Coulson David L Nelson George Weinstock John E Sulston Richard Durbin Tim Hubbard Richard A Gibbs Stephan Beck Jane Rogers David R Bentley

Nature 2005 Mar;434(7031):325-37

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://www.genenames.org/sites/genenames.org/files/documents
Web Search
http://www.nature.com/doifinder/10.1038/nature03440
Publisher Site
http://dx.doi.org/10.1038/nature03440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665286PMC
March 2005

Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas.

Int J Cancer 2003 Aug;106(1):74-7

Department of Obstetrics and Gynecology, Medical Center, University of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.11169DOI Listing
August 2003

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.

DNA Seq 2003 Apr;14(2):123-7

Department of Ophthalmology, School of Medicine, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.

View Article

Download full-text PDF

Source
April 2003

Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food.

Gene 2003 Jan;303:165-75

Institute of Chemistry, Slovak Academy of Sciences, Laboratory of Genetic Engineering, Dúbravska cesta 9, 84236 Bratislava, Slovak Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0378-1119(02)01174-5DOI Listing
January 2003

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Am J Hum Genet 2002 Apr 20;70(4):1049-53. Epub 2002 Feb 20.

Department of Ophthalmology, Eye and Ear Institute Building, University of Pittsburgh, 203 Lothrop Street, Pittsburgh, PA 15213, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/339620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379101PMC
April 2002

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Eur J Hum Genet 2002 Mar;10(3):217-21

Abteilung Medizinische Genetik der Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Universität München, München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200789DOI Listing
March 2002