PMC Links for Books (Select 1491530) - PMC

Leman Damla Kotan, Charlton Cooper, Şükran Darcan, Ian M. Carr, Samim Özen, Yi Yan, Mohammad K. Hamedani, Fatih Gürbüz, Eda Mengen, İhsan Turan, Ayça Ulubay, Gamze Akkuş, Bilgin Yüksel, A. Kemal Topaloğlu, Etienne Leygue

J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 125–134. Published online 2016 Jun 6. doi: 10.4274/jcrpe.3248

PMCID:: PMC5096466

Abstract Article PDF–212K

Select item 48708684.

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

B. Ian Hutchins, L. Damla Kotan, Carol Taylor-Burds, Yusuf Ozkan, Paul J. Cheng, Fatih Gurbuz, Jean D. R. Tiong, Eda Mengen, Bilgin Yuksel, A. Kemal Topaloglu, Susan Wray

Endocrinology. 2016 May; 157(5): 1956–1966. Published online 2016 Mar 25. doi: 10.1210/en.2015-1846

PMCID:: PMC4870868

Abstract Article

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44977526.

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome

Anna Cariboni, Valentina André, Sophie Chauvet, Daniele Cassatella, Kathryn Davidson, Alessia Caramello, Alessandro Fantin, Pierre Bouloux, Fanny Mann, Christiana Ruhrberg

J Clin Invest. 2015 Jun 1; 125(6): 2413–2428. Published online 2015 May 18. doi: 10.1172/JCI78448

PMCID:: PMC4497752

Abstract Article PDF–11M

Select item 43330397.

Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome

Ravikumar Balasubramanian, Sheena Chew, Sarah E. MacKinnon, Peter B. Kang, Caroline Andrews, Wai-Man Chan, Elizabeth C. Engle

J Clin Endocrinol Metab. 2015 Mar; 100(3): E473–E477. Published online 2015 Jan 5. doi: 10.1210/jc.2014-4107

PMCID:: PMC4333039

Abstract Article

Select item 43126968.

TAC3 and TACR3 Mutations in Familial Hypogonadotropic Hypogonadism Reveal a Key Role for Neurokinin B in the Central Control of Reproduction

A.Kemal Topaloglu, Frank Reimann, Metin Guclu, Ayse Serap Yalin, L. Damla Kotan, Keith M Porter, Ayse Serin, Neslihan O Mungan, Joshua R Cook, Sazi Imamoglu, N. Sema Akalin, Bilgin Yuksel, Stephen O’Rahilly, Robert K Semple

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2009 Mar; 41(3): 354–358. Published online 2008 Dec 11. doi: 10.1038/ng.306

PMCID:: PMC4312696

Abstract Article PDF–1.2M

Select item 43067179.

Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

Tulay Guran, Gwen Tolhurst, Abdullah Bereket, Nuno Rocha, Keith Porter, Serap Turan, Fiona M. Gribble, L. Damla Kotan, Teoman Akcay, Zeynep Atay, Husniye Canan, Ayse Serin, Stephen O’Rahilly, Frank Reimann, Robert K. Semple, A. Kemal Topaloglu

J Clin Endocrinol Metab. Author manuscript; available in PMC 2015 Jan 27.

Published in final edited form as: J Clin Endocrinol Metab. 2009 Oct; 94(10): 3633–3639. Published online 2009 Sep 15. doi: 10.1210/jc.2009-0551

PMCID:: PMC4306717

Abstract Article PDF–516K

Select item 427332510.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Ravikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, Jason Willer, Edward R. Horton, Eleni P. Asimacopoulos, Konstantina M. Stankovic, Lacey Plummer, Cassandra L. Buck, Richard Quinton, Todd D. Nebesio, Veronica Mericq, Paulina M. Merino, Brian F. Meyer, Dorota Monies, James F. Gusella, Nada Al Tassan, Nicholas Katsanis, William F. Crowley, Jr.

Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50): 17953–17958. Published online 2014 Dec 3. doi: 10.1073/pnas.1417438111

PMCID:: PMC4273325

Abstract Article PDF–1.0M

Select item 415714511.

Mutations in FEZF1 Cause Kallmann Syndrome

L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih Gurbuz, Y. Kenan Bicakci, Eda Mengen, Bilgin Yuksel, Susan Wray, A. Kemal Topaloglu

Am J Hum Genet. 2014 Sep 4; 95(3): 326–331. doi: 10.1016/j.ajhg.2014.08.006

PMCID:: PMC4157145

Abstract Article PDF–452K

Select item 397377712.

Functional Consequences of AXL Sequence Variants in Hypogonadotropic Hypogonadism

S. Salian-Mehta, M. Xu, A. J. Knox, L. Plummer, D. Slavov, M. Taylor, S. Bevers, R. S. Hodges, W. F. Crowley, Jr, M. E. Wierman

J Clin Endocrinol Metab. 2014 Apr; 99(4): 1452–1460. Published online 2014 Jan 29. doi: 10.1210/jc.2013-3426

PMCID:: PMC3973777

Abstract Article

Select item 394223313.

Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System

Valerie F. Sidhoum, Yee-Ming Chan, Margaret F. 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

J Clin Endocrinol Metab. 2014 Mar; 99(3): 861–870. Published online 2013 Dec 19. doi: 10.1210/jc.2013-2809

PMCID:: PMC3942233

Abstract Article

Select item 388881814.

Nasal Embryonic LHRH Factor (NELF) Mutations in Patients with Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Ning Xu, Hyung-Goo Kim, Balasubramanian Bhagavath, Sung-Gyu Cho, Jae Ho Lee, Kyungsoo Ha, Irene Meliciani, Wolfgang Wenzel, Robert H. Podolsky, Lynn P. Chorich, Kathryn A. Stackhouse, Anna M.H. Grove, Lawrence N. Odom, Metin Ozata, David P. Bick, Richard J. Sherins, Soo-Hyun Kim, Richard S. Cameron, Lawrence C. Layman

Fertil Steril. Author manuscript; available in PMC 2014 Jan 12.

Published in final edited form as: Fertil Steril. 2011 Apr; 95(5): 1613–20.e1-7. Published online 2011 Feb 15. doi: 10.1016/j.fertnstert.2011.01.010

PMCID:: PMC3888818

Abstract Article PDF–289K

Select item 381627015.

Trial of Recombinant Follicle-Stimulating Hormone Pretreatment for GnRH-Induced Fertility in Patients with Congenital Hypogonadotropic Hypogonadism

Andrew A. Dwyer, Gerasimos P. Sykiotis, Frances J. Hayes, Paul A. Boepple, Hang Lee, Kevin R. Loughlin, Martin Dym, Patrick M. Sluss, William F. Crowley, Jr., Nelly Pitteloud

J Clin Endocrinol Metab. 2013 Nov; 98(11): E1790–E1795. Published online 2013 Sep 13. doi: 10.1210/jc.2013-2518

PMCID:: PMC3816270

Abstract Article

Select item 373806516.

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

David H. Margolin, Maria Kousi, Yee-Ming Chan, Elaine T. Lim, Jeremy D. Schmahmann, Marios Hadjivassiliou, Janet E. Hall, Ibrahim Adam, Andrew Dwyer, Lacey Plummer, Stephanie V. Aldrin, Julia O’Rourke, Andrew Kirby, Kasper Lage, Aubrey Milunsky, Jeff M. Milunsky, Jennifer Chan, E. Tessa Hedley-Whyte, Mark J. Daly, Nicholas Katsanis, Stephanie B. Seminara

N Engl J Med. Author manuscript; available in PMC 2013 Nov 23.

Published in final edited form as: N Engl J Med. 2013 May 23; 368(21): 1992–2003. Published online 2013 May 8. doi: 10.1056/NEJMoa1215993

PMCID:: PMC3738065

Abstract Article PDF–3.4M

Select item 364463617.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

Hichem Miraoui, Andrew A. Dwyer, Gerasimos P. Sykiotis, Lacey Plummer, Wilson Chung, Bihua Feng, Andrew Beenken, Jeff Clarke, Tune H. Pers, Piotr Dworzynski, Kimberley Keefe, Marek Niedziela, Taneli Raivio, William F. Crowley, Jr., Stephanie B. Seminara, Richard Quinton, Virginia A. Hughes, Philip Kumanov, Jacques Young, Maria A. Yialamas, Janet E. Hall, Guy Van Vliet, Jean-Pierre Chanoine, John Rubenstein, Moosa Mohammadi, Pei-San Tsai, Yisrael Sidis, Kasper Lage, Nelly Pitteloud

Am J Hum Genet. 2013 May 2; 92(5): 725–743. doi: 10.1016/j.ajhg.2013.04.008

PMCID:: PMC3644636

Abstract Article PDF–1.4M

Select item 364463118.

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Veronique Pingault, Virginie Bodereau, Viviane Baral, Severine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, Odile Vérier-Mine, Christine Francannet, Delphine Dupin-Deguine, Françoise Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean-Pierre Hardelin, Catherine Dodé, Nadege Bondurand

Am J Hum Genet. 2013 May 2; 92(5): 707–724. doi: 10.1016/j.ajhg.2013.03.024

PMCID:: PMC3644631

Abstract Article PDF–2.4M

Select item 364460719.

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Flavia Amanda Costa-Barbosa, Ravikumar Balasubramanian, Kimberly W. Keefe, Natalie D. Shaw, Nada Al-Tassan, Lacey Plummer, Andrew A. Dwyer, Cassandra L. Buck, Jin-Ho Choi, Stephanie B. Seminara, Richard Quinton, Dorota Monies, Brian Meyer, Janet E. Hall, Nelly Pitteloud, William F. Crowley, Jr

J Clin Endocrinol Metab. 2013 May; 98(5): E943–E953. Published online 2013 Mar 26. doi: 10.1210/jc.2012-4116

PMCID:: PMC3644607

Abstract Article

Select item 357292920.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, Peter B. Kang, Caroline Andrews, Bryn D. Webb, Sarah E. MacKinnon, Darren T. Oystreck, Jessica Rankin, Thomas O. Crawford, Michael Geraghty, Scott L. Pomeroy, William F. Crowley, Jr, Ethylin Wang Jabs, David G. Hunter, Patricia E. Grant, Elizabeth C. Engle

Brain. 2013 Feb; 136(2): 522–535. Published online 2013 Jan 31. doi: 10.1093/brain/aws345

PMCID:: PMC3572929

Abstract Article PDF–757K

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