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Clinical DNA Variant Interpretation
Clinical DNA Variant Interpretation
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Clinical DNA Variant Interpretation

Conxi Lázaro Jordan Lerner-Ellis; Conxi Lázaro; George Patrinos; George P Patrinos; Amanda Spurdle

Academic Press 2021

Acesso online

2
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
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Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

Catasús, Núria ; Garcia, Belen ; Galván-Femenía, Iván ; Plana, Adrià ; Negro, Alejandro ; Rosas, Inma ; Ros, Andrea ; Amilibia, Emilio ; Becerra, Juan Luis ; Hostalot, Cristina ; Rocaribas, Francesc ; Bielsa, Isabel ; Lazaro Garcia, Conxi ; de Cid, Rafael ; Serra, Eduard ; Blanco, Ignacio ; Castellanos, Elisabeth

Journal of medical genetics, 2022-07, Vol.59 (7), p.678-686 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
AhR controls redox homeostasis and shapes the tumor microenvironment in BRCA1-associated breast cancer
AhR controls redox homeostasis and shapes the tumor microenvironment in BRCA1-associated breast cancer
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AhR controls redox homeostasis and shapes the tumor microenvironment in BRCA1-associated breast cancer

Kubli, Shawn P. ; Bassi, Christian ; Roux, Cecilia ; Wakeham, Andrew ; Göbl, Christoph ; Zhou, Wenjing ; Jafari, Soode Moghadas ; Snow, Bryan ; Jones, Lisa ; Palomero, Luis ; Thu, Kelsie L. ; Cassetta, Luca ; Soong, Daniel ; Berger, Thorsten ; Ramachandran, Parameswaran ; Baniasadi, Shakiba P. ; Duncan, Gordon ; Lindzen, Moshit ; Yarden, Yosef ; Herranz, Carmen ; Lazaro, Conxi ; Chu, Mandy F. ; Haight, Jillian ; Tinto, Paul ; Silvester, Jennifer ; Cescon, David W. ; Petit, Anna ; Pettersson, Sven ; Pollard, Jeffrey W. ; Mak, Tak W. ; Pujana, Miguel A. ; Cappello, Paola ; Gorrini, Chiara

Proceedings of the National Academy of Sciences - PNAS, 2019-02, Vol.116 (9), p.3604-3613 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
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Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

Bolton, Kelly L ; Chenevix- Trench, Georgia ; Goh, Cindy ; Sadetzki, Siegal ; Ramus, Susan J ; Karlan, Beth Y ; Lambrechts, Diether ; Despierre, Evelyn ; Barrowdale, Daniel ; McGuffog, Lesley ; Healey, Sue ; Easton, Douglas F ; Sinilnikova, Olga ; Benítez, Javier ; García, María J ; Neuhausen, Susan ; Gail, Mitchell H ; Hartge, Patricia ; Peock, Susan ; Frost, Debra ; Evans, D. Gareth ; Eeles, Rosalind ; Godwin, Andrew K ; Daly, Mary B ; Kwong, Ava ; Ma, Edmond S. K ; Lázaro, Conxi ; Blanco, Ignacio ; Montagna, Marco ; D'Andrea, Emma ; Nicoletto, Maria Ornella ; Johnatty, Sharon E ; Kjær, Susanne Krüger ; Jensen, Allan ; Høgdall, Estrid ; Goode, Ellen L ; Fridley, Brooke L ; Loud, Jennifer T ; Greene, Mark H ; Mai, Phuong L ; Chetrit, Angela ; Lubin, Flora ; Hirsh-Yechezkel, Galit ; Glendon, Gord ; Andrulis, Irene L ; Toland, Amanda E ; Senter, Leigha ; Gore, Martin E ; Gourley, Charlie ; Michie, Caroline O ; Song, Honglin ; Tyrer, Jonathan ; Whittemore, Alice S ; McGuire, Valerie ; Sieh, Weiva ; Kristoffersson, Ulf ; Olsson, Håkan ; Borg, Åke ; Levine, Douglas A ; Steele, Linda ; Beattie, Mary S ; Chan, Salina ; Nussbaum, Robert L ; Moysich, Kirsten B ; Gross, Jenny ; Cass, Ilana ; Walsh, Christine ; Li, Andrew J ; Leuchter, Ronald ; Gordon, Ora ; Garcia-Closas, Montserrat ; Gayther, Simon A ; Chanock, Stephen J ; Antoniou, Antonis C ; Pharoah, Paul D. P ; EMBRACE, kConFab Investigators, and The Cancer Genome Atlas Research Network, for the

JAMA : the journal of the American Medical Association, 2012-01, Vol.307 (4), p.382-389 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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5
Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation
Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation
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Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

Biayna, Josep ; Mazuelas, Helena ; Gel, Bernat ; Terribas, Ernest ; Dumbovic, Gabrijela ; Rosas, Inma ; Fernández-Rodriguez, Juana ; Blanco, Ignacio ; Castellanos, Elisabeth ; Carrió, Meritxell ; Lazaro, Conxi ; Serra, Eduard

Scientific reports, 2021-02, Vol.11 (1), p.3661-3661, Article 3661 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment
Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment
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Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

Grabenstetter, Anne ; Lazaro, Conxi ; Turashvili, Gulisa

Frontiers in oncology, 2020-12, Vol.10, p.618369-618369 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
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Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario

Lerner-Ellis, Jordan ; Mighton, Chloe ; Lazaro, Conxi ; Watkins, Nicholas ; Di Gioacchino, Vanessa ; Wong, Andrew ; Chang, Martin C. ; Charames, George S.

Journal of cancer research and clinical oncology, 2021-03, Vol.147 (3), p.871-879 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Tumors defective in homologous recombination rely on oxidative metabolism: relevance to treatments with PARP inhibitors
Tumors defective in homologous recombination rely on oxidative metabolism: relevance to treatments with PARP inhibitors
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Tumors defective in homologous recombination rely on oxidative metabolism: relevance to treatments with PARP inhibitors

Lahiguera, Álvaro ; Hyroššová, Petra ; Figueras, Agnès ; Garzón, Diana ; Moreno, Roger ; Soto‐Cerrato, Vanessa ; McNeish, Iain ; Serra, Violeta ; Lazaro, Conxi ; Barretina, Pilar ; Brunet, Joan ; Menéndez, Javier ; Matias‐Guiu, Xavier ; Vidal, August ; Villanueva, Alberto ; Taylor‐Harding, Barbie ; Tanaka, Hisashi ; Orsulic, Sandra ; Junza, Alexandra ; Yanes, Oscar ; Muñoz‐Pinedo, Cristina ; Palomero, Luís ; Pujana, Miquel Àngel ; Perales, José Carlos ; Viñals, Francesc

EMBO molecular medicine, 2020-06, Vol.12 (6), p.e11217-n/a [Periódico revisado por pares]

England: EMBO Press

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9
Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
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Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario

Lerner-Ellis, Jordan ; Mighton, Chloe ; Lazaro, Conxi ; Watkins, Nicholas ; Di Gioacchino, Vanessa ; Wong, Andrew ; Chang, Martin C. ; Charames, George S.

Journal of cancer research and clinical oncology, 2021-08, Vol.147 (8), p.2487-2487 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
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Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

Moreno-Cabrera, José Marcos ; Del Valle, Jesús ; Castellanos, Elisabeth ; Feliubadaló, Lidia ; Pineda, Marta ; Brunet, Joan ; Serra, Eduard ; Capellà, Gabriel ; Lázaro, Conxi ; Gel, Bernat

European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1645-1655 [Periódico revisado por pares]

England: Nature Publishing Group

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Deste Autor:

  1. Spurdle, A
  2. Lerner-Ellis, J
  3. Conxi Lázaro
  4. Lázaro, C
  5. Patrinos, G

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Breast Cancer
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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