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Epigenetic Alterations in Human Liver From Subjects With Type 2 Diabetes in Parallel With Reduced Folate Levels
Nilsson, Emma, Matte, Ashok, Perfilyev, Alexander, de Mello, Vanessa D., Käkelä, Pirjo, Pihlajamäki, Jussi, Ling, Charlotte
Published in The journal of clinical endocrinology and metabolism (01.11.2015)
Published in The journal of clinical endocrinology and metabolism (01.11.2015)
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CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
Thacher, Tom D., Fischer, Philip R., Singh, Ravinder J., Roizen, Jeffrey, Levine, Michael A.
Published in The journal of clinical endocrinology and metabolism (01.07.2015)
Published in The journal of clinical endocrinology and metabolism (01.07.2015)
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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
Zhu, Jia, Choa, Ruth E.-Y., Guo, Michael H., Plummer, Lacey, Buck, Cassandra, Palmert, Mark R., Hirschhorn, Joel N., Seminara, Stephanie B., Chan, Yee-Ming
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
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Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
López-Espíndola, Daniela, Morales-Bastos, Carmen, Grijota-Martínez, Carmen, Liao, Xiao-Hui, Lev, Dorit, Sugo, Ella, Verge, Charles F., Refetoff, Samuel, Bernal, Juan, Guadaño-Ferraz, Ana
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Hepatic De Novo Lipogenesis in Obese Youth Is Modulated by a Common Variant in the GCKR Gene
Santoro, Nicola, Caprio, Sonia, Pierpont, Bridget, Van Name, Michelle, Savoye, Mary, Parks, Elizabeth J.
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
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Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization
Li, Dong, Opas, Evan E., Tuluc, Florin, Metzger, Daniel L., Hou, Cuiping, Hakonarson, Hakon, Levine, Michael A.
Published in The journal of clinical endocrinology and metabolism (01.09.2014)
Published in The journal of clinical endocrinology and metabolism (01.09.2014)
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The Effects of Temperature and Seasons on Subcutaneous White Adipose Tissue in Humans: Evidence for Thermogenic Gene Induction
Kern, Philip A., Finlin, Brian S., Zhu, Beibei, Rasouli, Neda, McGehee, Robert E., Westgate, Philip M., Dupont-Versteegden, Esther E.
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Mutations in the ANGPTL3 Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization
Minicocci, Ilenia, Montali, Anna, Robciuc, Marius Robert, Quagliarini, Fabiana, Censi, Vincenzo, Labbadia, Giancarlo, Gabiati, Claudia, Pigna, Giovanni, Sepe, Maria Laura, Pannozzo, Fabio, Lütjohann, Dieter, Fazio, Sergio, Jauhiainen, Matti, Ehnholm, Christian, Arca, Marcello
Published in The journal of clinical endocrinology and metabolism (01.07.2012)
Published in The journal of clinical endocrinology and metabolism (01.07.2012)
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Variants in DENND1A Are Associated with Polycystic Ovary Syndrome in Women of European Ancestry
Welt, Corrine K., Styrkarsdottir, Unnur, Ehrmann, David A., Thorleifsson, Gudmar, Arason, Gudmundur, Gudmundsson, Jens A., Ober, Carole, Rosenfield, Robert L., Saxena, Richa, Thorsteinsdottir, Unnur, Crowley, William F., Stefansson, Kari
Published in The journal of clinical endocrinology and metabolism (01.07.2012)
Published in The journal of clinical endocrinology and metabolism (01.07.2012)
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Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
Dauber, Andrew, Nguyen, Thutrang T., Sochett, Etienne, Cole, David E. C., Horst, Ronald, Abrams, Steven A., Carpenter, Thomas O., Hirschhorn, Joel N.
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
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Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications
Lewkowitz-Shpuntoff, Hilana M., Hughes, Virginia A., Plummer, Lacey, Au, Margaret G., Doty, Richard L., Seminara, Stephanie B., Chan, Yee-Ming, Pitteloud, Nelly, Crowley, William F., Balasubramanian, Ravikumar
Published in The journal of clinical endocrinology and metabolism (01.01.2012)
Published in The journal of clinical endocrinology and metabolism (01.01.2012)
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Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons
Carmody, David, Bell, Charles D., Hwang, Jessica L., Dickens, Jazzmyne T., Sima, Daniela I., Felipe, Dania L., Zimmer, Carrie A., Davis, Ajuah O., Kotlyarevska, Kateryna, Naylor, Rochelle N., Philipson, Louis H., Greeley, Siri Atma W.
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Further Investigation in Europeans of Susceptibility Variants for Polycystic Ovary Syndrome Discovered in Genome-Wide Association Studies of Chinese Individuals
Brower, Meredith A., Jones, Michelle R., Rotter, Jerome I., Krauss, Ronald M., Legro, Richard S., Azziz, Ricardo, Goodarzi, Mark O.
Published in The Journal of Clinical Endocrinology & Metabolism (01.01.2015)
Published in The Journal of Clinical Endocrinology & Metabolism (01.01.2015)
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The Expression of the miR-25/93/106b Family of Micro-RNAs in the Adipose Tissue of Women With Polycystic Ovary Syndrome
Wu, Hsiao-Li, Heneidi, Saleh, Chuang, Tung-Yueh, Diamond, Michael P., Layman, Lawrence C., Azziz, Ricardo, Chen, Yen-Hao
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Kim, Mimi S., Ryabets-Lienhard, Anna, Dao-Tran, Anh, Mittelman, Steven D., Gilsanz, Vicente, Schrager, Sheree M., Geffner, Mitchell E.
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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A Novel Point Mutation of the Human Glucocorticoid Receptor Gene Causes Primary Generalized Glucocorticoid Resistance Through Impaired Interaction With the LXXLL Motif of the p160 Coactivators: Dissociation of the Transactivating and Transreppressive Activities
Nicolaides, Nicolas C., Roberts, Michael L., Kino, Tomoshige, Braatvedt, Geoffrey, Hurt, Darrell E., Katsantoni, Eleni, Sertedaki, Amalia, Chrousos, George P., Charmandari, Evangelia
Published in The journal of clinical endocrinology and metabolism (01.05.2014)
Published in The journal of clinical endocrinology and metabolism (01.05.2014)
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Effects of Low-Dose Estrogen Replacement During Childhood on Pubertal Development and Gonadotropin Concentrations in Patients With Turner Syndrome: Results of a Randomized, Double-Blind, Placebo-Controlled Clinical Trial
Quigley, Charmian A., Wan, Xiaohai, Garg, Sipi, Kowal, Karen, Cutler, Gordon B., Ross, Judith L.
Published in The journal of clinical endocrinology and metabolism (01.09.2014)
Published in The journal of clinical endocrinology and metabolism (01.09.2014)
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Lack of Racial Disparity in Incident Prediabetes and Glycemic Progression Among Black and White Offspring of Parents With Type 2 Diabetes: The Pathobiology of Prediabetes in a Biracial Cohort (POP-ABC) Study
Dagogo-Jack, Samuel, Edeoga, Chimaroke, Ebenibo, Sotonte, Nyenwe, Ebenezer, Wan, Jim
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
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