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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; Valenzuela-Palomo, Alberto; Velasco, Eladio A; Southey, Melissa; Vreeswijk, Maaike P G; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B; Walker, Logan C; Krieger, Sophie; de la Hoya, Miguel.
Afiliação
  • Lopez-Perolio I; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Leman R; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
  • Behar R; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Lattimore V; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
  • Pearson JF; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
  • Castéra L; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
  • Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, UNIROUEN, Normandie Université, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Vaur D; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
  • Goardon N; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
  • Davy G; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
  • Garre P; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • García-Barberán V; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Llovet P; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Pérez-Segura P; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Díaz-Rubio E; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Caldés T; Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Hruska KS; GeneDx, Gaithersburg, Maryland, USA.
  • Hsuan V; Ambry Genetics, Aliso Viejo, CA, USA.
  • Wu S; Ambry Genetics, Aliso Viejo, CA, USA.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA.
  • Karam R; Ambry Genetics, Aliso Viejo, CA, USA.
  • Vallon-Christersson J; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Borg A; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Valenzuela-Palomo A; The Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Australia.
  • Velasco EA; Splicing and genetic susceptibility to cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.
  • Southey M; Splicing and genetic susceptibility to cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.
  • Vreeswijk MPG; Genetic Epidemiology Laboratory, Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, Australia.
  • Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kvist A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Spurdle AB; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Walker LC; Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Krieger S; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
  • de la Hoya M; Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
J Med Genet ; 56(7): 453-460, 2019 07.
Article em En | MEDLINE | ID: mdl-30890586
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Processamento Alternativo / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína do Grupo de Complementação N da Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Processamento Alternativo / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína do Grupo de Complementação N da Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article