31
TITLE: Deficiency of immunoregulatory indoleamine 2,3-dioxygenase 1 in juvenile diabetes
AUTHORS: Orabona, C; Mondanelli, G; Pallotta, MT; Carvalho, A; Albini, E; Fallarino, F; Vacca, C; Volpi, C; Belladonna, ML; Berioli, MG; Ceccarini, G; Esposito, SMR; Scattoni, R; Verrotti, A; Ferretti, A; De Giorgi, G; Toni, S; Cappa, M; Matteoli, MC; Bianchi, R; Matino, D; Iacono, A; Puccetti, M; Cunha, C; Bicciato, S; Antognelli, C; Talesa, VN; Chatenoud, L; Fuchs, D; Pilotte, L; Van den Eynde, B; Lemos, MC; Romani, L; Puccetti, P; Grohmann, U; ...More
PUBLISHED: 2018, SOURCE: JCI INSIGHT, VOLUME: 3, ISSUE: 6
INDEXED IN: WOS CrossRef: 48
IN MY: ORCID
32
TITLE: Association of FOXE1 polyalanine repeat region with thyroid cancer is dependent on tumour size
AUTHORS: Raimundo, J; Alvelos, MI; Azevedo, T; Martins, T; Rodrigues, FJ; Lemos, MC;
PUBLISHED: 2017, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 86, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
33
TITLE: Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism  Full Text
AUTHORS: Badiu, C; Bonomi, M; Borshchevsky, I; Cools, M; Craen, M; Ghervan, C; Hauschild, M; Hershkovitz, E; Hrabovszky, E; Juul, A; Kim, SH; Kumanov, P; Lecumberri, B; Lemos, MC; Neocleous, V; Niedziela, M; Djurdjevic, SP; Persani, L; Phan Hug, F; Pignatelli, D; Pitteloud, N; Popovic, V; Quinton, R; Skordis, N; Smith, N; Stefanija, MA; Xu, C; Young, J; Dwyer, AA; ...More
PUBLISHED: 2017, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID
34
TITLE: Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism
AUTHORS: Gonçalves, CI; Fonseca, F; Borges, T; Cunha, F; Lemos, MC;
PUBLISHED: 2017, SOURCE: Human Reproduction, VOLUME: 32, ISSUE: 3
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID
35
TITLE: GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
AUTHORS: Catarina I Goncalves; Jose M Aragues; Margarida Bastos; Luisa Barros; Nuno Vicente; Davide Carvalho; Manuel C Lemos;
PUBLISHED: 2017, SOURCE: ENDOCRINE CONNECTIONS, VOLUME: 6, ISSUE: 6
INDEXED IN: WOS
36
TITLE: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome and GATA3
AUTHORS: Horta, M; Lino, C; Lemos, MC;
PUBLISHED: 2017, SOURCE: QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, VOLUME: 110, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
37
TITLE: GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
AUTHORS: Gonçalves, CI; Aragüés, JM; Bastos, M; Barros, L; Vicente, N; Carvalho, D ; Lemos, MC;
PUBLISHED: 2017, SOURCE: Endocrine Connections, VOLUME: 6, ISSUE: 6
INDEXED IN: Scopus CrossRef: 15
IN MY: ORCID
38
TITLE: Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene  Full Text
AUTHORS: Joana B Infante; Maria I Alvelos; Margarida Bastos; Francisco Carrilho; Manuel C Lemos;
PUBLISHED: 2016, SOURCE: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, VOLUME: 155
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
39
TITLE: Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
AUTHORS: Petra Dusatkova; Roland Pfaeffle; Milton R Brown; Natallia Akulevich; Ivo J P Arnhold; Maria A Kalina; Karolina Kot; Ciril Krzisnik; Manuel C Lemos; Jana Malikova; Ruta Navardauskaite; Barbora Obermannova; Zuzana Pribilincova; Agnes Sallai; Gordana Stipancic; Rasa Verkauskiene; Ondrej Cinek; Werner F Blum; John S Parks; Frederic Austerlitz; Jan Lebl; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 27
IN MY: ORCID
40
TITLE: Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene  Full Text
AUTHORS: Manuel C Lemos; Paul T Christie; Dircea Rodrigues; Rajesh V Thakker;
PUBLISHED: 2016, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 84, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
Page 4 of 7. Total results: 66.