Collection home page  journal of clinical endocrinology and metabolism 2015

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PreviewIssue DateTitleContributor(s)
e360.pdf.jpgFeb-2015Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasionYu, Willie; McPherson, John R; Stevenson, Mark; van Eijk, Ronald; Heng, Hong Lee; Newey, Paul; Gan, Anna; Ruano, Dina; Huang, Dachuan; Poon, Song Ling; Ong, Choon Kiat; van Wezel, Tom; Cavaco, Branca; Rozen, Steven G; Tan, Patrick; Teh, Bin T; Thakker, Rajesh V; Morreau, Hans
e355.pdf.jpgFeb-2015C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasiaOlney, Robert C; Prickett, Timothy C R; Espiner, Eric A; Mackenzie, William G; Duker, Angela L; Ditro, Colleen; Zabel, Bernhard; Hasegawa, Tomonobu; Kitoh, Hiroshi; Aylsworth, Arthur S; Bober, Michael B
e350.pdf.jpgFeb-2015NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiencyNovoselova, Tatiana V; Rath, Shoshana R; Carpenter, Karen; Pachter, Nicholas; Dickinson, Jan E; Price, Glynis; Chan, Li F; Choong, Catherine S; Metherell, Louise A
e345.pdf.jpgFeb-2015Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American IndiansTsai, Ching-Wei; North, Kari E; Tin, Adrienne; Haack, Karin; Franceschini, Nora; Saroja Voruganti, V; Laston, Sandy; Zhang, Ying; Best, Lyle G; MacCluer, Jean W; Beaty, Terri H; Navas-Acien, Ana; Kao, W H Linda; Howard, Barbara V
e333.pdf.jpgFeb-2015Exome sequencing for the diagnosis of 46,XY disorders of sex developmentBaxter, Ruth M; Arboleda, Valerie A; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P; Fechner, Patricia Y; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P; Stalker, Heather J; Zori, Roberto; Gordon, Ora K; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F; Délot, Emmanuèle; Vilain, Eric
e325.pdf.jpgFeb-2015Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expressionReich, Adi; Bae, Alison S; Barnes, Aileen M; Cabral, Wayne A; Hinek, Aleksander; Stimec, Jennifer; Hill, Suvimol C; Chitayat, David; Marini, Joan C
e319.pdf.jpgFeb-2015Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' diseaseOryoji, Daisuke; Ueda, Sho; Yamamoto, Ken; Yoshimura Noh, Jaeduk; Okamura, Ken; Noda, Mitsuhiko; Watanabe, Natsuko; Yoshihara, Ai; Ito, Koichi; Sasazuki, Takehiko
e308.pdf.jpgFeb-2015Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutationToledo, Sergio P A; Lourenço, Delmar M; Sekiya, Tomoko; Lucon, Antonio M; Baena, Marcos E S; Castro, Claudio C; Bortolotto, Luiz A; Zerbini, Maria C N; Siqueira, Sheila A C; Toledo, Rodrigo A; Dahia, Patricia L M
e301.pdf.jpgFeb-2015Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effectMarino, Roxana; Perez Garrido, Natalia; Costanzo, Mariana; Guercio, Gabriela; Juanes, Matías; Rocco, Carlos; Ramirez, Pablo; Warman, Diana M; Ciaccio, Marta; Pena, Gladys; Feyling, José García; Miras, Mirta; Rivarola, Marco A; Belgorosky, Alicia; Saraco, Nora
e301.pdf.jpgFeb-2015Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effectMarino, Roxana; Perez Garrido, Natalia; Costanzo, Mariana; Guercio, Gabriela; Juanes, Matías; Rocco, Carlos; Ramirez, Pablo; Warman, Diana M; Ciaccio, Marta; Pena, Gladys; Feyling, José García; Miras, Mirta; Rivarola, Marco A; Belgorosky, Alicia; Saraco, Nora
e297.pdf.jpgFeb-2015The severity of congenital hypothyroidism of central origin should not be underestimatedZwaveling-Soonawala, Nitash; van Trotsenburg, A S Paul; Verkerk, Paul H
e292.pdf.jpgFeb-2015Sex steroids, precursors, and metabolite deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative studyGiton, Frank; Trabado, Séverine; Maione, Luigi; Sarfati, Julie; Le Bouc, Yves; Brailly-Tabard, Sylvie; Fiet, Jean; Young, Jacques
e287.pdf.jpgFeb-2015SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paragangliomaMenara, Mélanie; Oudijk, Lindsey; Badoual, Cécile; Bertherat, Jérôme; Lepoutre-Lussey, Charlotte; Amar, Laurence; Iturrioz, Xavier; Sibony, Mathilde; Zinzindohoué, Frank; de Krijger, Ronald; Gimenez-Roqueplo, Anne-Paule; Favier, Judith
e282.pdf.jpgFeb-2015Rationale for the application of RANKL inhibition in the treatment of Langerhans cell histiocytosisMakras, Polyzois; Salagianni, Maria; Revelos, Kyriakos; Anastasilakis, Athanasios D; Schini, Marian; Tsoli, Marina; Kaltsas, Gregory; Andreakos, Evangelos
e276.pdf.jpgFeb-2015Hypothalamic damage is associated with inflammatory markers and worse cognitive performance in obese subjectsPuig, Josep; Blasco, Gerard; Daunis-I-Estadella, Josep; Molina, Xavier; Xifra, Gemma; Ricart, Wifredo; Pedraza, Salvador; Fernández-Aranda, Fernando; Fernández-Real, José Manuel
e270.pdf.jpgFeb-2015Bone mass in young adulthood following gonadotropin-releasing hormone analog treatment and cross-sex hormone treatment in adolescents with gender dysphoriaKlink, Daniel; Caris, Martine; Heijboer, Annemieke; van Trotsenburg, Michael; Rotteveel, Joost
e262.pdf.jpgFeb-2015Nitric oxide and cGMP induce COX-2 expression and PGE2 production in human granulosa cells through CREB signaling pathwayFang, Lanlan; Chang, Hsun-Ming; Cheng, Jung-Chien; Leung, Peter C K; Sun, Ying-Pu
e253.pdf.jpgFeb-2015Novel heat shock protein 90 inhibitor NVP-AUY922 synergizes with the histone deacetylase inhibitor PXD101 in induction of death of anaplastic thyroid carcinoma cellsKim, Si Hyoung; Kang, Jun Goo; Kim, Chul Sik; Ihm, Sung-Hee; Choi, Moon Gi; Yoo, Hyung Joon; Lee, Seong Jin
e243.pdf.jpgFeb-2015Development and characterization of six new human papillary thyroid carcinoma cell linesHenderson, Ying C; Ahn, Soon-Hyun; Ryu, Junsun; Chen, Yunyun; Williams, Michelle D; El-Naggar, Adel K; Gagea, Mihai; Schweppe, Rebecca E; Haugen, Bryan R; Lai, Stephen Y; Clayman, Gary L
e232.pdf.jpgFeb-2015S100A8 is a novel therapeutic target for anaplastic thyroid carcinomaReeb, Ashley N; Li, Wen; Sewell, Will; Marlow, Laura A; Tun, Han W; Smallridge, Robert C; Copland, John A; Spradling, Kyle; Chernock, Rebecca; Lin, Reigh-Yi

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