ProfileOfResearchers

Identified 9

1

TITLE: ZEBRAFISH MUTANT FOR CDKL5 MIMICS PHENOTYPES ASSOCIATED WITH HUMAN CDKL5 DEFICIENCY DISORDER Full Text
AUTHORS: Varela, Tatiana; Varela, Debora; Conceicao, Natercia; Cancela, M. Leonor;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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2

TITLE: REGULATION OF ZNF687 DURING OSTEOBLAST DIFFERENTIATION Full Text
AUTHORS: Varela, Debora; Varela, Tatiana; Conceicao, Natercia; Cancela, M. Leonor;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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3

TITLE: Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration Full Text
AUTHORS: Adriao, A; Santana, I; Ribeiro, C; Cancela, ML; Conceicao, N; Grazina, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES

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4

TITLE: Characterization of Paget's Disease of Bone Patients from the South of Portugal (Algarve and Alentejo) - Clinical and Genetic Aspects
AUTHORS: Graca Sequeira; Pedro Carvalho; Celia Ribeiro; Ana Alfaia; Natercia Conceicao; Leonor Cancela;
PUBLISHED: 2018, SOURCE: ARTHRITIS & RHEUMATOLOGY, VOLUME: 70

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5

TITLE: Zebrafish as a disease model for studying human Rett Syndrome Full Text
AUTHORS: Vitorino, M; Conceicao, N; Adriao, A; Cancela, ML ;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 46

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6

TITLE: Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants Full Text
AUTHORS: Silva, IAL; Michou, L; Cancela, ML ; Conceicao, N;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 46

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7

TITLE: Functional study of OPTN variants associated with Paget's disease of bone Full Text
AUTHORS: Iris A L Silva; Natercia Conceicao; Laetitia Michou; Leonor L Cancela;
PUBLISHED: 2014, SOURCE: Annual Meeting of the American-Society-for-Bone-and-Mineral-Research in JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 29

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8

TITLE: Transcription factors from Sox family regulate zebrafish Gla-rich protein 2 gene Full Text
AUTHORS: Fazenda, C; Conceicao, N; Cancela, L;
PUBLISHED: 2014, SOURCE: FEBS EMBO 2014 Conference in FEBS JOURNAL, VOLUME: 281

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9

TITLE: Gla-rich protein, a new player in tissue calcification? (vol 3, pg 174, 2012)
AUTHORS: Cancela, ML ; Conceicao, N; Laize, V;
PUBLISHED: 2012, SOURCE: ADVANCES IN NUTRITION, VOLUME: 3, ISSUE: 6

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WOS

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