Résultats de la recherche - Ravikumar Balasubramanian
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Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans par Katerina Hoskova, Nora Bryant, Margaret E Chen, Lisa B. Nachtigall, Margaret Lippincott, Ravikumar Balasubramanian, Stephanie B. Seminara
Publié 2022Artigo -
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Pioglitazone Decreases Fasting and Postprandial Endogenous Glucose Production in Proportion to Decrease in Hepatic Triglyceride Content par Ravikumar Balasubramanian, Jean Gerrard, Chiara Dalla Man, Michael Firbank, Annette P. Lane, Philip English, Claudio Cobelli, Roy Taylor
Publié 2008Artigo -
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Pioglitazone Decreases Fasting and Postprandial Endogenous Glucose Production in Proportion to Decrease in Hepatic Triglyceride Content par Ravikumar, Balasubramanian, Gerrard, Jean, Dalla Man, Chiara, Firbank, Michael J., Lane, Annette, English, Philip T., Cobelli, Claudio, Taylor, Roy
Publié 2008Texte -
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Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency par Kimberly H. Cox, Luciana M B Oliveira, Lacey Plummer, Braden Corbin, Thomas J. Gardella, Ravikumar Balasubramanian, William F. Crowley
Publié 2017Artigo -
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The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations par Cecilia Martin, Ravikumar Balasubramanian, Andrew Dwyer, Margaret Au, Yisrael Sidis, Ursula B. Kaiser, Stephanie B. Seminara, Nelly Pitteloud, Qun‐Yong Zhou, William F. Crowley
Publié 2010Revisão -
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Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications par Hilana Lewkowitz-Shpuntoff, Virginia Hughes, Lacey Plummer, Margaret Au, Richard L. Doty, Stephanie B. Seminara, Yee-Ming Chan, Nelly Pitteloud, William F. Crowley, Ravikumar Balasubramanian
Publié 2011Artigo -
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Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System par Valerie F. Sidhoum, Yee-Ming Chan, Margaret Lippincott, Ravikumar Balasubramanian, Richard Quinton, Lacey Plummer, Andrew Dwyer, Nelly Pitteloud, Frances J. Hayes, Janet E. Hall, Kathryn A. Martin, Paul A. Boepple, Stephanie B. Seminara
Publié 2013Artigo -
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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes par Flávia A. Costa‐Barbosa, Ravikumar Balasubramanian, Kimberly W. Keefe, Natalie D. Shaw, Nada Al Tassan, Lacey Plummer, Andrew Dwyer, Cassandra Buck, Jin‐Ho Choi, Stephanie B. Seminara, Richard Quinton, Dorota Monies, Brian F. Meyer, Janet E. Hall, Nelly Pitteloud, William F. Crowley
Publié 2013Artigo -
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A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 par Sheena Chew, Ravikumar Balasubramanian, Wai‐Man Chan, Peter B. Kang, Caroline Andrews, Bryn D. Webb, Sarah MacKinnon, Darren T. Oystreck, Jessica K. Rankin, Thomas O. Crawford, Michael T. Geraghty, Scott L. Pomeroy, William F. Crowley, Ethylin Wang Jabs, David G. Hunter, P. Ellen Grant, Elizabeth C. Engle
Publié 2013Artigo -
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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency par Jin‐Ho Choi, Ravikumar Balasubramanian, Phil H. Lee, Natalie D. Shaw, Janet E. Hall, Lacey Plummer, Cassandra Buck, Marie-Laure Kottler, Katarzyna Jarząbek, Sławomir Wołczyński, Richard Quinton, Ana Cláudia Latronico, Catherine Dodé, Tsutomu Ogata, Hyung‐Goo Kim, Lawrence C. Layman, James F. Gusella, William F. Crowley
Publié 2015Artigo -
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Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency par Ravikumar Balasubramanian, Jin‐Ho Choi, Ludmila Francescatto, Jason R. Willer, Edward R. Horton, Eleni P. Asimacopoulos, Konstantina M. Stanković, Lacey Plummer, Cassandra Buck, Richard Quinton, Todd D. Nebesio, Verónica Mericq, Paulina M. Merino, Brian F. Meyer, Dorota Monies, James F. Gusella, Nada Al Tassan, Nicholas Katsanis, William F. Crowley
Publié 2014Artigo -
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An ancient founder mutation in PROKR2 impairs human reproduction par Magdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P. Sykiotis, Jacques Young, Richard Quinton, Ana Paula Abreu, Lacey Plummer, Margaret Au, Ravikumar Balasubramanian, Andrew Dwyer, José C. Florez, Timothy Cheetham, Simon H. S. Pearce, Radhika Purushothaman, Albert Schinzel, Michel Pugeat, Elka Jacobson-Dickman, Svetlana Ten, Ana Cláudia Latronico, James F. Gusella, Catherine Dodé, William F. Crowley, Nelly Pitteloud
Publié 2012Artigo -
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A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice par Savage, David B, Zhai, Lanmin, Ravikumar, Balasubramanian, Choi, Cheol Soo, Snaar, Johanna E, McGuire, Amanda C, Wou, Sung-Eun, Medina-Gomez, Gemma, Kim, Sheene, Bock, Cheryl B, Segvich, Dyann M, Vidal-Puig, Antonio, Wareham, Nicholas J, Shulman, Gerald I, Karpe, Fredrik, Taylor, Roy, Pederson, Bartholomew A, Roach, Peter J, O'Rahilly, Stephen, DePaoli-Roach, Anna A
Publié 2008Texte -
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TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci par Erica E. Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan, Błażej Męczekalski, Karen E. Heath, Vanesa López‐González, María Juliana Ballesta‐Martínez, G Margabanthu, Susan Price, James Greening, Raja Brauner, Irene Valenzuela, Ivon Cuscó, Paula Fernández‐Álvarez, Margaret E. Wierman, Taibo Li, Kasper Lage, Priscila Sales Barroso, Yee-Ming Chan, William F. Crowley, Nicholas Katsanis
Publié 2020Artigo -
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Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice par Savage, David B, Zhai, Lanmin, Ravikumar, Balasubramanian, Choi, Cheol Soo, Snaar, Johanna E, McGuire, Amanda C, Wou, Sung-Eun, Medina-Gomez, Gemma, Kim, Sheene, Bock, Cheryl B, Segvich, Dyann M, Solanky, Bhavana, Deelchand, Dinesh, Vidal-Puig, Antonio, Wareham, Nicholas J, Shulman, Gerald I, Karpe, Fredrik, Taylor, Roy, Pederson, Bartholomew A, Roach, Peter J, O'Rahilly, Stephen, DePaoli-Roach, Anna A
Publié 2008Texte -
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose par Angela Delaney, Rita Volochayev, Brooke Meader, Janice Lee, Konstantinia Almpani, Germaine Y Noukelak, Jennifer Henkind, Laura Chalmers, Jennifer Law, Kathleen A. Williamson, Christina M. Jacobsen, Tatiana Pineda Buitrago, O. Moreno Perez, Chie Hee Cho, Angela M. Kaindl, Anita Rauch, Katharina Steindl, José Elías García, Bianca Russell, Rameshwar Prasad, Uttam Mondal, Hallvard Reigstad, Scott Clements, Hanna Kim, Kaoru Inoue, Gazal Arora, Kathryn Salnikov, Nicole P DiOrio, Rolando Prada, Yline Capri, Kosuke Morioka, Michiyo Mizota, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Cristiano Tonello, Siulan Vendramini‐Pittoli, Gisele da Silva Dalben, Ravikumar Balasubramanian, Andrew Dwyer, Stephanie B. Seminara, William F. Crowley, Lacey Plummer, Janet E. Hall, John M. Graham, Angela E. Lin, Natalie D. Shaw
Publié 2020Artigo -
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Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum par Samvida S. Venkatesh, Laura B. L. Wittemans, Duncan S. Palmer, Nikolas Baya, Teresa Ferreira, Barney Hill, Frederik H. Lassen, Melody J Parker, Saskia Reibe, Ahmed Elhakeem, Karina Banasik, Mie Topholm Bruun, Christian Erikstrup, Bitten Aagaard Jensen, Anders Juul, Christina Mikkelsen, Henriette Svarre Nielsen, Sisse Rye Ostrowski, Ole Birger Pedersen, Palle Duun Rohde, Erik Sørensen, Henrik Ullum, David Westergaard, Ásgeir Haraldsson, Hilma Hólm, Ingileif Jónsdóttir, Ísleifur Ólafsson, Þóra Steingrímsdóttir, Valgerður Steinthórsdóttir, Guðmar Þorleifsson, Jéssica Figuerêdo, Minna K. Karjalainen, Anu Pasanen, Benjamin Meir Jacobs, Nikki Hubers, Margaret Lippincott, Abigail Fraser, Debbie A. Lawlor, Nicholas J. Timpson, Mette Nyegaard, Kāri Stefánsson, Reedik Mägi, Hannele Laivuori, David A. van Heel, Dorret I. Boomsma, Ravikumar Balasubramanian, Stephanie B. Seminara, Yee-Ming Chan, Triin Laisk, Cecilia M. Lindgren
Publié 2024Pré-impressão
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Biology
Gene
Genetics
Medicine
Endocrinology
Internal medicine
Disease
Phenotype
Coronavirus disease 2019 (COVID-19)
Infectious disease (medical specialty)
Mutation
Hormone
Kallmann syndrome
Allele
Antibody
Gonadotropin-releasing hormone
Luteinizing hormone
Neuroscience
Anosmia
B cell
Hypogonadotropic hypogonadism
Immunoglobulin D
Missense mutation
Population
Chemistry
Context (archaeology)
Diabetes mellitus
Environmental health
Female infertility
Founder effect