Manuel Carlos Loureiro de Lemos
AuthID: R-000-K5Y
31
TITLE: Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism Full Text
AUTHORS: Corin Badiu; Marco Bonomi; Ivan Borshchevsky; Martine Cools; Margarita Craen; Cristina Ghervan; Michael Hauschild; Eli Hershkovitz; Erik Hrabovszky; Anders Juul; Soo Hyun Kim; Phillip Kumanov; Beatriz Lecumberri; Manuel C Lemos; Vassos Neocleous; Marek Niedziela; Sandra Pekic Djurdjevic; Luca Persani; Franziska Phan Hug; Duarte Pignatelli; ...More
PUBLISHED: 2017, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 12, ISSUE: 1
AUTHORS: Corin Badiu; Marco Bonomi; Ivan Borshchevsky; Martine Cools; Margarita Craen; Cristina Ghervan; Michael Hauschild; Eli Hershkovitz; Erik Hrabovszky; Anders Juul; Soo Hyun Kim; Phillip Kumanov; Beatriz Lecumberri; Manuel C Lemos; Vassos Neocleous; Marek Niedziela; Sandra Pekic Djurdjevic; Luca Persani; Franziska Phan Hug; Duarte Pignatelli; ...More
PUBLISHED: 2017, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 12, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS32
TITLE: Expanding the genetic spectrum of ANOS 1 mutations in patients with congenital hypogonadotropic hypogonadism
AUTHORS: Goncalves, CI; Fonseca, F; Borges, T; Cunha, F; Lemos, MC;
PUBLISHED: 2017, SOURCE: HUMAN REPRODUCTION, VOLUME: 32, ISSUE: 3
AUTHORS: Goncalves, CI; Fonseca, F; Borges, T; Cunha, F; Lemos, MC;
PUBLISHED: 2017, SOURCE: HUMAN REPRODUCTION, VOLUME: 32, ISSUE: 3
INDEXED IN: WOS
WOS33
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
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
WOS34
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
AUTHORS: Horta, M; Lino, C; Lemos, MC;
PUBLISHED: 2017, SOURCE: QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, VOLUME: 110, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS35
TITLE: Physical Fitness and Frailty Syndrome in Institutionalized Older Women
AUTHORS: Furtado, G; Patrício, M; Loureiro, M; Teixeira, AM; Ferreira, JP;
PUBLISHED: 2017, SOURCE: Perceptual and Motor Skills, VOLUME: 124, ISSUE: 4
AUTHORS: Furtado, G; Patrício, M; Loureiro, M; Teixeira, AM; Ferreira, JP;
PUBLISHED: 2017, SOURCE: Perceptual and Motor Skills, VOLUME: 124, ISSUE: 4
36
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
37
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
38
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
39
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
40
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
