Risultati della ricerca - Ravikumar Balasubramanian
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Requiem for international medical graduates di Natarajan, Arun, Ravikumar, Balasubramanian
Pubblicazione 2006testo -
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Pioglitazone Decreases Fasting and Postprandial Endogenous Glucose Production in Proportion to Decrease in Hepatic Triglyceride Content di Ravikumar Balasubramanian, Jean Gerrard, Chiara Dalla Man, Michael Firbank, Annette P. Lane, Philip English, Claudio Cobelli, Roy Taylor
Pubblicazione 2008Artigo -
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Pioglitazone Decreases Fasting and Postprandial Endogenous Glucose Production in Proportion to Decrease in Hepatic Triglyceride Content di Ravikumar, Balasubramanian, Gerrard, Jean, Dalla Man, Chiara, Firbank, Michael J., Lane, Annette, English, Philip T., Cobelli, Claudio, Taylor, Roy
Pubblicazione 2008testo -
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Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency di Kimberly H. Cox, Luciana M B Oliveira, Lacey Plummer, Braden Corbin, Thomas J. Gardella, Ravikumar Balasubramanian, William F. Crowley
Pubblicazione 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 di Cecilia Martin, Ravikumar Balasubramanian, Andrew Dwyer, Margaret Au, Yisrael Sidis, Ursula B. Kaiser, Stephanie B. Seminara, Nelly Pitteloud, Qun‐Yong Zhou, William F. Crowley
Pubblicazione 2010Revisão -
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Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications di 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
Pubblicazione 2011Artigo -
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Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System di 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
Pubblicazione 2013Artigo -
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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes di 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
Pubblicazione 2013Artigo -
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A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 di 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
Pubblicazione 2013Artigo -
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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency di 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
Pubblicazione 2015Artigo -
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Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency di 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
Pubblicazione 2014Artigo -
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An ancient founder mutation in PROKR2 impairs human reproduction di 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
Pubblicazione 2012Artigo -
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A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice di 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
Pubblicazione 2008testo -
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TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci di 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
Pubblicazione 2020Artigo -
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Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice di 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
Pubblicazione 2008testo -
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose di 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
Pubblicazione 2020Artigo -
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Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum di 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
Pubblicazione 2024Pré-impressão
Strumenti per la ricerca:
Soggetti correlati
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