ProfileOfResearchers

TITLE: Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes
AUTHORS: 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;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96

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TITLE: Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2

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TITLE: NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: SCIENCE TRANSLATIONAL MEDICINE, VOLUME: 14, ISSUE: 665

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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

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TITLE: Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism
AUTHORS: 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;
PUBLISHED: 2013, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 98, ISSUE: 2

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TITLE: Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
AUTHORS: 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;
PUBLISHED: 2008, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 93, ISSUE: 9

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TITLE: Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
AUTHORS: 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;
PUBLISHED: 2007, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 104, ISSUE: 44

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WOS

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