ProfileOfResearchers

TÃTULO: Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes
AUTORES: Correa, Fernanda de Azevedo; Habibi, Imen; Kolesinska, Zofia; Zouaghi, Yassine; Zhai, Jing; Phan Hug, Franziska; Antoniou, Maria Chiristina; Pignatelli, Duarte; Lang Muritano, Mariarosaria; Marek, Niedziela; l'Allemands, Dagmar; Papadakis, Georgios; Ameti, Adelina; Messina, Andrea; Niederlander, Nicolas J.; Boizot, Alexia; Santoni, Federico; Acierno, James S.; Pitteloud, Nelly;
PUBLICAÇÃO: 2023, FONTE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96

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TÃTULO: Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background
AUTORES: Kolesinska, Zofia; Xu, Cheng; Messina, Andrea; Acierno, James; Niederlander, Nicolas; Santoni, Federico; Papadakis, Georgios; Pignatelli, Duarte; Stefanija, Magdalena Avbelj; Kimberly, Keefe Smith; Balasubramanian, Ravikumar; Crowley, William; Pitteloud, Nelly;
PUBLICAÇÃO: 2022, FONTE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, NÚMERO: SUPPL 2

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TÃTULO: NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice
AUTORES: Chachlaki, Konstantina; Messina, Andrea; Delli, Virginia; Leysen, Valerie; Maurnyi, Csilla; Huber, Chieko; Ternier, Gaetan; Skrapits, Katalin; Papadakis, Georgios; Shruti, Sonal; Kapanidou, Maria; Cheng, Xu; Acierno, James; Rademaker, Jesse; Rasika, Sowmyalakshmi; Quinton, Richard; Niedziela, Marek; L'Allemand, Dagmar; Pignatelli, Duarte; Dirlewander, Mirjam; Lang Muritano, Mariarosaria; Kempf, Patrick; Catteau Jonard, Sophie; Niederlaender, Nicolas J.; Ciofi, Philippe; Tena Sempere, Manuel; Garthwaite, John; Storme, Laurent; Avan, Paul; Hrabovszky, Erik; Carleton, Alan; Santoni, Federico; Giacobini, Paolo; Pitteloud, Nelly; Prevot, Vincent; ...Mais
PUBLICAÇÃO: 2022, FONTE: SCIENCE TRANSLATIONAL MEDICINE, VOLUME: 14, NÚMERO: 665

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TÃTULO: Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2
AUTORES: Ravikumar Balasubramanian; Daniel A Cohen; Elizabeth B Klerman; Duarte Pignatelli; Janet E Hall; Andrew A Dwyer; Charles A Czeisler; Nelly Pitteloud; William F Crowley;
PUBLICAÇÃO: 2014, FONTE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 99, NÚMERO: 3

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TÃTULO: Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism
AUTORES: Brent S Abel; Natalie D Shaw; Jenifer M Brown; Judith M Adams; Teresa Alati; Kathryn A Martin; Nelly Pitteloud; Stephanie B Seminara; Lacey Plummer; Duarte Pignatelli; William F Crowley; Corrine K Welt; Janet E Hall;
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 98, NÚMERO: 2

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TÃTULO: Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
AUTORES: Lindsay W Cole; Yisrael Sidis; ChengKang Zhang; Richard Quinton; Lacey Plummer; Duarte Pignatelli; Virginia A Hughes; Andrew A Dwyer; Taneli Raivio; Frances J Hayes; Stephanie B Seminara; Celine Huot; Nathalie Alos; Phyllis Speiser; Akira Takeshita; Guy Van Vliet; Simon Pearce; William F Crowley; Qun Yong Zhou; Nelly Pitteloud;
PUBLICAÇÃO: 2008, FONTE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 93, NÚMERO: 9

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TÃTULO: Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
AUTORES: Nelly Pitteloud; Chengkang Zhang; Duarte Pignatelli; Jia Da Li; Taneli Raivio; Lindsay W Cole; Lacey Plummer; Elka E Jacobson Dickman; Pamela L Mellon; Qun Yong Zhou; William F Crowley;
PUBLICAÇÃO: 2007, FONTE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 104, NÚMERO: 44

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