Manuel Carlos Loureiro de Lemos
AuthID: R-000-K5Y
41
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
AUTHORS: Gonçalves, CI; Aragüés, JM; Bastos, M; Barros, L; Vicente, N; Carvalho, D ; Lemos, MC;
PUBLISHED: 2017, SOURCE: Endocrine Connections, VOLUME: 6, ISSUE: 6
42
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
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
43
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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
44
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
AUTHORS: Manuel C Lemos; Paul T Christie; Dircea Rodrigues; Rajesh V Thakker;
PUBLISHED: 2016, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 84, ISSUE: 3
45
TITLE: Familial combined pituitary hormone deficiency by a mutation in PROP1: 4 of 7 brothers affected
AUTHORS: Eva Lau; Paula Freitas ; Eduarda Coutinho; Manuel Carlos Lemos; Davide Carvalho ;
PUBLISHED: 2016, SOURCE: REVISTA PORTUGUESA DE ENDOCRINOLOGIA DIABETES E METABOLISMO, VOLUME: 11, ISSUE: 1
AUTHORS: Eva Lau; Paula Freitas ; Eduarda Coutinho; Manuel Carlos Lemos; Davide Carvalho ;
PUBLISHED: 2016, SOURCE: REVISTA PORTUGUESA DE ENDOCRINOLOGIA DIABETES E METABOLISMO, VOLUME: 11, ISSUE: 1
46
TITLE: GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders Full Text
AUTHORS: Manuel C Lemos; Rajesh V Thakker;
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 1
AUTHORS: Manuel C Lemos; Rajesh V Thakker;
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 1
47
TITLE: Genetic polymorphisms of phase I and phase II metabolic enzymes as modulators of lung cancer susceptibility Full Text
AUTHORS: Mota, P; Silva, HC; Soares, MJ; Pego, A; Loureiro, M; Robalo Cordeiro, CR; Regateiro, FJ;
PUBLISHED: 2015, SOURCE: JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, VOLUME: 141, ISSUE: 5
AUTHORS: Mota, P; Silva, HC; Soares, MJ; Pego, A; Loureiro, M; Robalo Cordeiro, CR; Regateiro, FJ;
PUBLISHED: 2015, SOURCE: JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, VOLUME: 141, ISSUE: 5
48
TITLE: Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: Evidence for the involvement of an alternatively spliced isoform
AUTHORS: Gonçalves, C; Bastos, M; Pignatelli, D ; Borges, T; Aragüés, JM; Fonseca, F; Pereira, BD; Socorro, S; Lemos, MC;
PUBLISHED: 2015, SOURCE: Fertility and Sterility, VOLUME: 104, ISSUE: 5
AUTHORS: Gonçalves, C; Bastos, M; Pignatelli, D ; Borges, T; Aragüés, JM; Fonseca, F; Pereira, BD; Socorro, S; Lemos, MC;
PUBLISHED: 2015, SOURCE: Fertility and Sterility, VOLUME: 104, ISSUE: 5
49
TITLE: A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure. A Case Report and Mutation Update
AUTHORS: Maria Inês Alvelos; Magda Rodrigues; Luísa Lobo; Ana Medeira; Ana Berta Sousa; Carla Simão; Manuel Carlos Lemos;
PUBLISHED: 2015, SOURCE: Medicine (United States), VOLUME: 94, ISSUE: 7
AUTHORS: Maria Inês Alvelos; Magda Rodrigues; Luísa Lobo; Ana Medeira; Ana Berta Sousa; Carla Simão; Manuel Carlos Lemos;
PUBLISHED: 2015, SOURCE: Medicine (United States), VOLUME: 94, ISSUE: 7
50
TITLE: Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform
AUTHORS: Catarina Goncalves; Margarida Bastos; Duarte Pignatelli; Teresa Borges; Jose M Araguees; Fernando Fonseca; Bernardo D Pereira; Slvia Socorro; Manuel C Lemos;
PUBLISHED: 2015, SOURCE: FERTILITY AND STERILITY, VOLUME: 104, ISSUE: 5
AUTHORS: Catarina Goncalves; Margarida Bastos; Duarte Pignatelli; Teresa Borges; Jose M Araguees; Fernando Fonseca; Bernardo D Pereira; Slvia Socorro; Manuel C Lemos;
PUBLISHED: 2015, SOURCE: FERTILITY AND STERILITY, VOLUME: 104, ISSUE: 5
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