Ashton Prolla: search on Z-Library

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1

Brazilian health-care policy for targeted oncology therapies and companion diagnostic testing

Ferreira, Carlos Gil, Achatz, Maria Isabel, Ashton-Prolla, Patricia, Begnami, Maria Dirlei, Marchini, Fabricio K, Stefani, Stephen Doral

Journal:

The Lancet Oncology

Year:

2016

Language:

english

File:

PDF, 93 KB

english, 2016

2

Thalidomide, a current teratogen in South America

Castilla, E. E., Ashton-Prolla, P., Barreda-Mejia, E., Brunoni, D., Cavalcanti, D. P., Correa-Neto, J., Delgadillo, J. L., Dutra, M. G., Felix, T., Giraldo, A., Juarez, N., Lopez-Camelo, J. S., Nazer,

Journal:

Year:

1996

Language:

english

File:

PDF, 603 KB

english, 1996

3

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation

LB Jardim, R Palma-Dias, LCS Silva, P Ashton-Prolla, R Giugliani

Journal:

Acta Paediatrica

Year:

1996

Language:

english

File:

PDF, 345 KB

english, 1996

4

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis

Marcel, V, Palmero, E I, Falagan-Lotsch, P, Martel-Planche, G, Ashton-Prolla, P, Olivier, M, Brentani, R R, Hainaut, P, Achatz, M I

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

5

1165 Molecular Diagnosis of Mutations in RB1 Gene in Retinoblastoma Patients and Their Relatives – Implications for Genetic Counseling

Pereira Sena, P., Ashton-Prolla, P., Bonvicino, C.R., Vargas, F.R.

Journal:

European Journal of Cancer

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

6

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

Schlatter, Rosane Paixão, Matte, Ursula, Polanczyk, Carisi Anne, Koehler-Santos, Patrícia, Ashton-Prolla, Patricia

Journal:

Genetics and Molecular Biology

Year:

2015

Language:

english

File:

PDF, 447 KB

english, 2015

7

Effects of imilglucerase withdrawal on an adult with gaucher disease

Ida Vanessa D. Schwartz, Simone Karam, Patrícia Ashton-Prolla, Kristiane Michelin, Janice Coelho, Ricardo F. Pires, Maria Luiza Pereira, Roberto Giugliani

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 468 KB

english, 2001

8

Hereditary cancer syndromes: opportunities and challenges

Patricia Ashton-Prolla

Journal:

BMC Proceedings

Year:

2013

Language:

english

File:

PDF, 98 KB

english, 2013

9

Non-refereed articles and papers

Pereira Sena, P., Ashton-Prolla, P., Bonvicino, C.R., Vargas, F.R.

Journal:

Journal of Equine Veterinary Science

Year:

1988

Language:

english

File:

PDF, 1.02 MB

english, 1988

10

ESR1 rs9340799 Is Associated with Endometriosis-Related Infertility and In Vitro Fertilization Failure

Paskulin, Diego Davila, Cunha-Filho, João Sabino, Paskulin, Livia Davila, Souza, Carlos Augusto Bastos, Ashton-Prolla, Patricia

Journal:

Disease Markers

Year:

2013

Language:

english

File:

PDF, 126 KB

english, 2013

11

Non–pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease

Grace, Marie E., Ashton-Prolla, Patricia, Pastores, Gregory M., Soni, Agnes, Desnick, Robert J.

Journal:

Journal of Clinical Investigation

Year:

1999

Language:

english

File:

PDF, 262 KB

english, 1999

12

Frequency of the common germlineMUTYHmutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil

Carlos E. Pitroski, Silvia Liliana Cossio, Patrícia Koehler-Santos, Marcia Graudenz, João Carlos Prolla, Patricia Ashton-Prolla

Journal:

International Journal of Colorectal Disease

Year:

2011

Language:

english

File:

PDF, 240 KB

english, 2011

13

A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case–control study

Brandalize, Ana Paula, Schüler-Faccini, Lavínia, Hoffmann, Jean-Sébastien, Caleffi, Maira, Cazaux, Christophe, Ashton-Prolla, Patricia

Journal:

Year:

2014

Language:

english

File:

PDF, 275 KB

english, 2014

14

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53

Fitarelli-Kiehl, Mariana, Macedo, Gabriel S., Schlatter, Rosane Paixão, Koehler-Santos, Patricia, Matte, Ursula da Silveira, Ashton-Prolla, Patricia, Giacomazzi, Juliana

Journal:

Genetics and Molecular Biology

Year:

2016

Language:

english

File:

PDF, 643 KB

english, 2016

15

High frequency of the cancer-predisposing TP53 mutation R337H in the population of south Brazil – evidence for a founder effect

S. Garritano, S. Landi, F. Gemignani, O. Magali, G. Martel-Planche, R. Brentani, P. Ashton-Prolla, S. Tavtigian, P. Hainaut, M.I. Waddington Achatz

Journal:

European Journal of Cancer Supplements

Year:

2008

Language:

english

File:

PDF, 89 KB

english, 2008

16

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families

Abud, Jamile, Prolla, João Carlos, Koehler-Santos, Patrícia, Ashton-Prolla, Patricia

Journal:

Arquivos de Gastroenterologia

Year:

2012

Language:

english

File:

PDF, 682 KB

english, 2012

17

494PGENOMIC ALTERATIONS IN PATIENTS SHOWING MULTIPLE PRIMARY TUMORS AND FAMILY HISTORY OF CANCER

Canto, L. Matos Do, Basso, T. Ramos, Villacis, R.A. Rios, Giacomazzi, J., Ashton-Prolla, P., Achatz, M.I. Waddington, Rogatto, S.R.

Journal:

Annals of Oncology

Year:

2014

File:

PDF, 60 KB

2014

18

The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil

Renato M. Bakos, Robert Besch, Gabriela G. Zoratto, Janaína M. Godinho, Nicolle G. Mazzotti, Thomas Ruzicka, Lucio Bakos, Sidney E. Santos, Patricia Ashton-Prolla, Carola Berking, Roberto Giugliani

Journal:

Experimental Dermatology

Year:

2011

Language:

english

File:

PDF, 204 KB

english, 2011

19

miRNAs as Diagnostic and Prognostic Biomarkers in Pancreatic Ductal Adenocarcinoma and Its Precursor Lesions: A Review

Alemar, Bárbara, Gregório, Cleandra, Ashton-Prolla, Patricia

Journal:

Biomarker Insights

Year:

2015

Language:

english

File:

PDF, 922 KB

english, 2015

20

The role of genomics in global cancer prevention

Ginsburg, Ophira, Ashton-Prolla, Patricia, Cantor, Anna, Mariosa, Daniela, Brennan, Paul

Journal:

Nature Reviews Clinical Oncology (formerly Nature Clinical Practice Oncology)

Year:

2020

File:

PDF, 1.43 MB

2020

21

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

Irenio Gomes, Daniel B. Nora, Jefferson Becker, João Arthur C. Ehlers, Ida V.D. Schwartz, Roberto Giugliani, Patricia Ashton-Prolla, Laura Jardim

Journal:

Journal of the Neurological Sciences

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

22

Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services

Palmero, Edenir Inez, Kalakun, Luciane, Sch&uuml, ler-Faccini, Lavinia, Giugliani, Roberto, Regla Vargas, Fernando, Rocha, Jos&eacute, Cl&aacute, udio C., Ashton-Prolla, Patricia

Journal:

Community Genetics

Year:

2007

Language:

english

File:

PDF, 223 KB

english, 2007

23

Interaction between TP63 and MDM2 genes and the risk of recurrent pregnancy loss

Fraga, Lucas R., Boquett, Juliano A., Dutra, Caroline G., Vianna, Fernanda S., Heck, Camila, Gonçalves, Rozana O., Paskulin, Diego D., Costa, Olívia L., Ashton-Prolla, Patrícia, Sanseverino, Maria Ter

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2014

Language:

english

File:

PDF, 368 KB

english, 2014

24

Apolipoprotein E genetic polymorphism, serum lipoprotein levels and breast cancer risk: A case-control study

Cibeira, Gabriela, Giacomazzi, Juliana, Aguiar, Ernestina, Schneider, Silvana, Ettrich, Betina, Isoppo De Souza, Caroline, Camey, Suzi, Caleffi, Maira, Weber, Bernardete, Ashton-Prolla, Patricia, Mori

Journal:

Molecular and Clinical Oncology

Year:

2014

Language:

english

File:

PDF, 226 KB

english, 2014

25

miRNA-21 and miRNA-34a Are Potential Minimally Invasive Biomarkers for the Diagnosis of Pancreatic Ductal Adenocarcinoma

Alemar, Bárbara, Izetti, Patrícia, Gregório, Cleandra, Macedo, Gabriel S., Castro, Mauro Antonio Alves, Osvaldt, Alessandro Bersch, Matte, Ursula, Ashton-Prolla, Patricia

Journal:

Year:

2016

Language:

english

File:

PDF, 412 KB

english, 2016

26

Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital

Prolla, Carmen Maria Dornelles, Silva, Patrícia Santos da, Netto, Cristina Brinckmann Oliveira, Goldim, José Roberto, Ashton-Prolla, Patricia

Journal:

Revista Latino-Americana de Enfermagem

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

27

Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire

Vianna, Fernanda Sales Luiz, Giacomazzi, Juliana, Oliveira Netto, Cristina Brinckmann, Nunes, Luciana Neves, Caleffi, Maira, Ashton-Prolla, Patricia, Camey, Suzi Alves

Journal:

Genetics and Molecular Biology

Year:

2019

Language:

english

File:

PDF, 738 KB

english, 2019

28

Pooling of samples to optimize SARS-CoV-2 diagnosis by RT-qPCR: comparative analysis of two protocols

Volpato, Fabiana, Lima-Morales, Daiana, Wink, Priscila Lamb, Willig, Julia, de-Paris, Fernanda, Ashton-Prolla, Patricia, Barth, Afonso LuÃs

Journal:

European Journal of Clinical Microbiology & Infectious Diseases

Year:

2020

File:

PDF, 182 KB

2020

29

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

Patricia Ashton-Prolla, Juliana Giacomazzi, Aishameriane V Schmidt, Fernanda L Roth, Edenir I Palmero, Luciane Kalakun, Ernestina S Aguiar, Susana M Moreira, Erica Batassini, Vanessa Belo-Reyes, Lavin

Journal:

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

30

H63D and C282Y HFE mutations prevent sustained virologic response to interferon plus ribavirin in chronic hepatitis C patients with serum markers of iron overload

Silvia Coelho-Borges, Hugo Cheinquer, Nelson Cheinquer, Luciano Krug, Patricia Ashton-Prolla

Journal:

Journal of Hepatology

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

31

HFE gene mutations prevent sustained virological response to interferon plus ribavirin in chronic hepatitis C patients with serum markers of iron overload

Silvia Coelho-Borges, Hugo Cheinquer, Nelson Cheinquer, Luciano Krug, Patrı́cia Ashton-Prolla

Journal:

American Journal of Gastroenterology

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

32

Microsatellite Instability Testing in Genetically Heterogeneous Populations

Cossio, S. L., Ashton-Prolla, P., Bortolini, M.-C., Coura, R. S., Giugliani, R., Prolla, J. C.

Journal:

Journal of Clinical Oncology

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

33

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge

Journal:

Journal of Community Genetics

Year:

2015

Language:

english

File:

PDF, 172 KB

english, 2015

34

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

de Alencar, Dayse Oliveira, Netto, Cristina, Ashton-Prolla, Patricia, Giugliani, Roberto, Ribeiro-dos-Santos, Ândrea, Pereira, Fernanda, Matte, Ursula, Santos, Ney, Santos, Sidney

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 903 KB

english, 2014

35

Retinoblastoma in a pediatric oncology reference center in Southern Brazil

Selistre, Simone G. A., Maestri, Marcelo K., Santos-Silva, Patricia, Schüler-Faccini, Lavinia, Guimarães, Luis S. P., Giacomazzi, Juliana, Evangelista Júnior, Mario C., Ashton-Prolla, Patricia

Journal:

Year:

2016

Language:

english

File:

PDF, 557 KB

english, 2016

36

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

Schlatter, Rosane Paixão, Matte, Ursula, Polanczyk, Carisi Anne, Koehler-Santos, Patrícia, Ashton-Prolla, Patricia

Journal:

Genetics and Molecular Biology

Year:

2015

File:

PDF, 447 KB

2015

37

Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1

Woycinck Kowalski, Thayne, Brussa Reis, Larissa, Finger Andreis, Tiago, Ashton-Prolla, Patricia, Rosset, ClÃ©via

Journal:

Year:

2020

File:

PDF, 1.85 MB

2020

38

Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

Ashton-Prolla, P., Ashley, G.A., Giugliani, R., Pires, R.F., Desnick, R.J., Eng, C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 273 KB

english, 1999

39

Say syndrome: A new case with cystic renal dysplasia in discordant monozygotic twins

Ashton-Prolla, Patricia, Félix, Têmis Maria

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 679 KB

english, 1997

40

The challenge of evaluating adnexal masses in breast cancer patients

Reinert, Tomás, Nogueira-Rodrigues, Angélica, Kestelman, Fabiola Procacci, Ashton-Prolla, Patricia, Graudenz, Márcia Silveira, Bines, José

Journal:

Clinical Breast Cancer

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

41

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Rosset, Clévia, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia

Journal:

Genetics and Molecular Biology

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

42

Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

Achatz, Maria Isabel, Caleffi, Maira, Guindalini, Rodrigo, Marques, Renato Moretti, Nogueira-Rodrigues, Angelica, Ashton-Prolla, Patricia

Journal:

JCO Global Oncology

Year:

2020

File:

PDF, 596 KB

2020

43

Impact of β1-Adrenergic Receptor Polymorphisms on Susceptibility to Heart Failure, Arrhythmogenesis, Prognosis, and Response to Beta-Blocker Therapy

Andréia Biolo, Nadine Clausell, Kátia G. Santos, Roberto Salvaro, Patrícia Ashton-Prolla, Anibal Borges, Luis E. Rohde

Journal:

The American Journal of Cardiology

Year:

2008

Language:

english

File:

PDF, 367 KB

english, 2008

44

High frequency of the cancer-predisposing TP53 mutation R337H in the population of south Brazil: evidence for a founder effect

S. Garritano, S. Landi, F. Gemignani, M. Olivier, G. Martel-Planche, R. Brentani, P. Ashton-Prolla, S. Tavtigian, P. Hainaut, M.I. Waddington Achatz

Journal:

European Journal of Cancer Supplements

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

45

Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis

Artigalás, Osvaldo, Vanni, Tazio, Hutz, Mara Helena, Ashton-Prolla, Patricia, Schwartz, Ida Vanessa

Journal:

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

46

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach

Brussa Reis, Larissa, Turchetto-Zolet, Andreia Carina, Fonini, Maievi, Ashton-Prolla, Patricia, Rosset, Clévia

Journal:

Year:

2019

Language:

english

File:

PDF, 769 KB

english, 2019

47

Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil

Ashton-Prolla, Patricia, Bakos, Lucio, Junqueira, Gerson, Giugliani, Roberto, Azevedo, Sergio J, Hogg, David

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

48

Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness

Ceolin, L., Rodrigues Siqueira, D., Vaz Ferreira, C., Romitti, M., Cavalcante Maia, S., Leiria, L., Crispim, D., Ashton Prolla, P., Maia, A. L.

Journal:

European Journal of Endocrinology

Year:

2012

File:

PDF, 26 KB

2012

49

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome

Palmero, Edenir I, Achatz, Maria IW, Ashton-Prolla, Patricia, Olivier, Magali, Hainaut, Pierre

Journal:

Current Opinion in Oncology

Year:

2010

Language:

english

File:

PDF, 341 KB

english, 2010

50

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

Reis, Larissa B., Bakos, Renato M., Vianna, Fernanda S. L., Macedo, Gabriel S., Jacovas, Vanessa C., Ribeiro-dos-Santos, AndrÃ© M., Santos, Sidney, Bakos, LÃºcio, Ashton-Prolla, Patricia

Journal:

Year:

2020

File:

PDF, 796 KB

2020

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