Teresa Kay
AuthID: R-00F-S35
1
TITLE: Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease Full Text
AUTHORS: Sidky, Ahmed M.; Melo, Ana Rosa Vieira; Kay, Teresa T.; Raposo, Mafalda; Lima, Manuela; Monckton, Darren G.;
PUBLISHED: 2024, SOURCE: HUMAN GENETICS
AUTHORS: Sidky, Ahmed M.; Melo, Ana Rosa Vieira; Kay, Teresa T.; Raposo, Mafalda; Lima, Manuela; Monckton, Darren G.;
PUBLISHED: 2024, SOURCE: HUMAN GENETICS
2
TITLE: ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD Full Text
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS3
TITLE: Ovotesticular Disorder of Sexual Development Diagnosed in Adolescence - a Twins Case Report
AUTHORS: Coelho, Isabel; Costa, Maria Soto Maior; Kay, Teresa; Forte, Joana Patena; Cardoso, Dinorah; Lopes, Lurdes; Galhardo, Julia;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
AUTHORS: Coelho, Isabel; Costa, Maria Soto Maior; Kay, Teresa; Forte, Joana Patena; Cardoso, Dinorah; Lopes, Lurdes; Galhardo, Julia;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
WOS4
TITLE: The first two Portuguese patients with Schuurs-Hoeijmakers syndrome: case report and review of the literature
AUTHORS: Ferreira, Susana Lemos; Almeida, Pedro Maia; Rosas, Catarina Silva; Melo, Mafalda Santos; Sousa, Sergio Bernardo; Amorim, Marta; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Ferreira, Susana Lemos; Almeida, Pedro Maia; Rosas, Catarina Silva; Melo, Mafalda Santos; Sousa, Sergio Bernardo; Amorim, Marta; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS5
TITLE: Interstitial deletion of 2q32.3q33.3: Two case reports of SATB2-Associated-Syndrome and Immune System alterations
AUTHORS: Catanho, Joana Adelaide; Cordeiro, Ana Isabel; Kay, Teresa; Carvalho, Ines;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Catanho, Joana Adelaide; Cordeiro, Ana Isabel; Kay, Teresa; Carvalho, Ines;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS6
TITLE: Zhu-Tokita-Takenouchi-Kim syndrome: the first case due to a 21q22.1 microdeletion encompassing SON gene
AUTHORS: Melo, Mafalda Santos; Ferreira, Susana Lemos; Antunes, Diana; Goncalves, Rui; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Melo, Mafalda Santos; Ferreira, Susana Lemos; Antunes, Diana; Goncalves, Rui; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS7
TITLE: Early onset obesity due to a mutation in the human leptin receptor gene
AUTHORS: Chaves, Carolina ; Kay, Teresa; Anselmo, Joao;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2022, ISSUE: 1
AUTHORS: Chaves, Carolina ; Kay, Teresa; Anselmo, Joao;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2022, ISSUE: 1
8
TITLE: Complete androgen insensitivity syndrome: A case report
AUTHORS: Costa, Maria Soto Maior; Galhardo, Julia; Anselmo, Marisol; Alves, Fatima; Kay, Teresa; Lopes, Lurdes;
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
AUTHORS: Costa, Maria Soto Maior; Galhardo, Julia; Anselmo, Marisol; Alves, Fatima; Kay, Teresa; Lopes, Lurdes;
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
INDEXED IN: WOS
WOS9
TITLE: Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients Full Text
AUTHORS: Mafalda Raposo; Conceicao Bettencourt; Amanda Ramos; Nadiya Kazachkova; Joao Vasconcelos; Teresa Kay; Jacome Bruges Armas; Manuela Lima;
PUBLISHED: 2017, SOURCE: NEUROMOLECULAR MEDICINE, VOLUME: 19, ISSUE: 1
AUTHORS: Mafalda Raposo; Conceicao Bettencourt; Amanda Ramos; Nadiya Kazachkova; Joao Vasconcelos; Teresa Kay; Jacome Bruges Armas; Manuela Lima;
PUBLISHED: 2017, SOURCE: NEUROMOLECULAR MEDICINE, VOLUME: 19, ISSUE: 1
10
TITLE: Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3) Full Text
AUTHORS: Mafalda Raposo; Joao Vasconcelos; Conceicao Bettencourt; Teresa Kay; Paula Coutinho; Manuela Lima;
PUBLISHED: 2014, SOURCE: BMC NEUROLOGY, VOLUME: 14, ISSUE: 1
AUTHORS: Mafalda Raposo; Joao Vasconcelos; Conceicao Bettencourt; Teresa Kay; Paula Coutinho; Manuela Lima;
PUBLISHED: 2014, SOURCE: BMC NEUROLOGY, VOLUME: 14, ISSUE: 1
