Nicola K Poplawski

Nicola K Poplawski

UNVERIFIED PROFILE

Are you Nicola K Poplawski?   Register this Author

Register author
Nicola K Poplawski

Nicola K Poplawski

Publications by authors named "Nicola K Poplawski"

Are you Nicola K Poplawski?   Register this Author

9Publications

272Reads

22Profile Views

Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Endocrinol Diabetes Metab Case Rep 2019 May 3;2019. Epub 2019 May 3.

Endocrine and Metabolic Unit, Royal Adelaide Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EDM-19-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499914PMC
May 2019

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

Medicare-funded cancer genetic tests: a note of caution.

Med J Aust 2018 08;209(5):193-196

Prince of Wales Hospital and Community Health Services, Sydney, NSW.

View Article

Download full-text PDF

Source
August 2018

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

JAMA Neurol 2017 09;74(9):1123-1129

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.

View Article

Download full-text PDF

Source
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2017.1406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710179PMC
September 2017

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.

Clin Endocrinol (Oxf) 2016 09 10;85(3):495-7. Epub 2016 Jun 10.

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.13104DOI Listing
September 2016

Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.

Liver Transpl 2010 Apr;16(4):470-3

South Australian Liver Transplant Unit, Flinders Medical Centre, Bedford Park, South Australia, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/lt.22019
Publisher Site
http://dx.doi.org/10.1002/lt.22019DOI Listing
April 2010