Teresa Kay
AuthID: R-00F-S35
11
TITLE: Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting Full Text
AUTHORS: Jose Luis Costa ; Sonia Sousa; Ana Justino; Teresa Kay; Susana Fernandes; Luis Cirnes; Fernando Schmitt ; Jose Carlos Machado ;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 4
AUTHORS: Jose Luis Costa ; Sonia Sousa; Ana Justino; Teresa Kay; Susana Fernandes; Luis Cirnes; Fernando Schmitt ; Jose Carlos Machado ;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 4
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TITLE: Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation
AUTHORS: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova ; Conceicao Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 12
AUTHORS: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova ; Conceicao Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 12
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TITLE: Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3) Full Text
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Jacome Bruges Armas ; Manuela Lima ;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 4
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Jacome Bruges Armas ; Manuela Lima ;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 4
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TITLE: Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Paula Coutinho ; Patrizia Rizzu; Joao Vasconcelos; Teresa Kay; Teresa Cymbron ; Mafalda Raposo; Peter Heutink; Manuela Lima ;
PUBLISHED: 2011, SOURCE: BMC NEUROLOGY, VOLUME: 11, ISSUE: 1
AUTHORS: Conceicao Bettencourt; Cristina Santos; Paula Coutinho ; Patrizia Rizzu; Joao Vasconcelos; Teresa Kay; Teresa Cymbron ; Mafalda Raposo; Peter Heutink; Manuela Lima ;
PUBLISHED: 2011, SOURCE: BMC NEUROLOGY, VOLUME: 11, ISSUE: 1
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TITLE: Dyskeratosis Congenita-Two Siblings with a New Missense Mutation in the DKC1 Gene. Brief Reports Full Text
AUTHORS: JOANA DIAS COELHO; SARA LESTRE; TERESA KAY; MARIA JOÃO PAIVA LOPES; TERESA FIADEIRO; MARGARIDA APETATO;
PUBLISHED: 2011, SOURCE: Pediatric Dermatology, VOLUME: 28, ISSUE: 4
AUTHORS: JOANA DIAS COELHO; SARA LESTRE; TERESA KAY; MARIA JOÃO PAIVA LOPES; TERESA FIADEIRO; MARGARIDA APETATO;
PUBLISHED: 2011, SOURCE: Pediatric Dermatology, VOLUME: 28, ISSUE: 4
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TITLE: The (CAG)(n) tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
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TITLE: Increased transcript diversity: novel splicing variants of Machado-Joseph Disease gene (ATXN3) Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Maria do Carmo Costa; Pablo Cruz Morales; Liliana Ribeiro Santos; Nelson Simoes ; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: NEUROGENETICS, VOLUME: 11, ISSUE: 2
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Maria do Carmo Costa; Pablo Cruz Morales; Liliana Ribeiro Santos; Nelson Simoes ; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: NEUROGENETICS, VOLUME: 11, ISSUE: 2
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TITLE: Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients
AUTHORS: Minica Santos; Teresa Temudo; Teresa Kay; Ines Carrilho; Ana Medeira; Helena Cabral; Roseli Gomes; Maria Teresa Lourenco; Margarida Venancio; Eulalia Calado; Ana Moreira; Guiomar Oliveira ; Patricia Maciel ;
PUBLISHED: 2009, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 24, ISSUE: 1
AUTHORS: Minica Santos; Teresa Temudo; Teresa Kay; Ines Carrilho; Ana Medeira; Helena Cabral; Roseli Gomes; Maria Teresa Lourenco; Margarida Venancio; Eulalia Calado; Ana Moreira; Guiomar Oliveira ; Patricia Maciel ;
PUBLISHED: 2009, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 24, ISSUE: 1
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TITLE: Analysis of segregation patterns in Machado-Joseph disease pedigrees Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Teresa Kay; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 10
AUTHORS: Conceicao Bettencourt; Cristina Santos; Teresa Kay; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 10
