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TITLE: Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
AUTHORS: Cassatella, D; Howard, SR; Acierno, JS; Xu, C; Papadakis, GE; Santoni, FA; Dwyer, AA; Santini, S; Sykiotis, GP; Chambion, C; Meylan, J; Marino, L; Favre, L; Li, JK; Liu, XZ; Zhang, JG; Bouloux, PM; De Geyter, C; De Paepe, A; Dhillo, WS; Ferrara, JM; Hauschild, M; Lang Muritano, M; Lemke, JR; Fluck, C; Nemeth, A; Phan Hug, F; Pignatelli, D; Popovic, V; Pekic, S; Quinton, R; Szinnai, G; I'Allemand, D; Konrad, D; Sharif, S; Iyidir, OT; Stevenson, BJ; Yang, HM; Dunkel, L; Pitteloud, N; ...More
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF ENDOCRINOLOGY, VOLUME: 178, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 87
IN MY: ORCID
22
TITLE: Cell cycle regulation in adrenocortical carcinoma
AUTHORS: Sofia S Pereira ; Mariana P Monteiro ; Isabelle Bourdeau; Andre Lacroix; Duarte Pignatelli;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF ENDOCRINOLOGY, VOLUME: 179, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
23
TITLE: Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
AUTHORS: Xu, C; Cassatella, D; van der Sloot, AM; Quinton, R; Hauschild, M; De Geyter, C; Fluck, C; Feller, K; Bartholdi, D; Nemeth, A; Halperin, I; Djurdjevic, SP; Maeder, P; Papadakis, G; Dwyer, AA; Marino, L; Favre, L; Pignatelli, D; Niederlander, NJ; Acierno, J; Pitteloud, N; ...More
PUBLISHED: 2018, SOURCE: GENETICS IN MEDICINE, VOLUME: 20, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 32
IN MY: ORCID
24
TITLE: End-to-End Ovarian Structures Segmentation
AUTHORS: Diego S Wanderley ; Catarina B Carvalho ; Ana Domingues; Carla Peixoto; Duarte Pignatelli; Jorge Beires; Jorge Silva ; Aurélio Campilho ;
PUBLISHED: 2018, SOURCE: 23rd Iberoamerican Congress on Pattern Recognition, CIARP 2018 in Progress in Pattern Recognition, Image Analysis, Computer Vision, and Applications - 23rd Iberoamerican Congress, CIARP 2018, Madrid, Spain, November 19-22, 2018, Proceedings, VOLUME: 11401
INDEXED IN: Scopus DBLP CrossRef: 3
IN MY: ORCID
25
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
28
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
INDEXED IN: Scopus CrossRef: 16
IN MY: ORCID
30
TITLE: Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2
AUTHORS: Ravikumar Balasubramanian; Daniel A Cohen; Elizabeth B Klerman; Duarte Pignatelli; Janet E Hall; Andrew A Dwyer; Charles A Czeisler; Nelly Pitteloud; William F Crowley;
PUBLISHED: 2014, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 99, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
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