Teresa Kay
AuthID: R-00F-S35
1
TITLE: Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease Full Text
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Liu, Louisa; Vasconcelos, Joao; Kay, Teresa; Bettencourt, Conceicao; Saraiva Pereira, Maria Luiza; Jardim, Laura Bannach; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2025, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Liu, Louisa; Vasconcelos, Joao; Kay, Teresa; Bettencourt, Conceicao; Saraiva Pereira, Maria Luiza; Jardim, Laura Bannach; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2025, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: TREACHER COLLINS SYNDROME: CLINICAL AND MOLECULAR INSIGHTS FROM A RETROSPECTIVE STUDY Full Text
AUTHORS: Catanho, Joana Adelaide; Ferreira, Susana Lemos; Melo, Mafalda; Nunes, Sofia; Antunes, Diana; Rodrigues, Marcia; Goncalves, Rui; Kay, Teresa; Venancio, Margarida; Carvalho, Ines;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Catanho, Joana Adelaide; Ferreira, Susana Lemos; Melo, Mafalda; Nunes, Sofia; Antunes, Diana; Rodrigues, Marcia; Goncalves, Rui; Kay, Teresa; Venancio, Margarida; Carvalho, Ines;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
WOS3
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
4
TITLE: Hickam's dictum: Keeping up with the Diagnoses
AUTHORS: Ferreira, Susana Lemos; Catanho, Joana; Melo, Mafalda; Nunes, Sofia; Goncalves, Rui; Amorim, Marta; Antunes, Diana; Rodrigues, Marcia; Kay, Teresa; Carvalho, Ines; Venancio, Margarida;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
AUTHORS: Ferreira, Susana Lemos; Catanho, Joana; Melo, Mafalda; Nunes, Sofia; Goncalves, Rui; Amorim, Marta; Antunes, Diana; Rodrigues, Marcia; Kay, Teresa; Carvalho, Ines; Venancio, Margarida;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
WOS5
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
WOS6
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
WOS7
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
WOS8
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
WOS9
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
WOS10
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
