William F Crowley

William F Crowley

UNVERIFIED PROFILE

Are you William F Crowley?   Register this Author

Register author
William F Crowley

William F Crowley

Publications by authors named "William F Crowley"

Are you William F Crowley?   Register this Author

81Publications

2078Reads

48Profile Views

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

J Clin Endocrinol Metab 2019 Aug;104(8):3403-3414

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2018-02697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594303PMC
August 2019

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Hum Mol Genet 2018 01;27(2):338-350

Harvard Reproductive Sciences Center and The Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886255PMC
January 2018

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Am J Med Genet C Semin Med Genet 2017 12 20;175(4):507-515. Epub 2017 Nov 20.

Harvard Reproductive Endocrine Sciences Center of Excellence in Translation Research & Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790312PMC
December 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Endocr Rev 2016 02;2016(1):4-22

Harvard National Center for Translational Research in Reproduction and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/er.2015-1045.2016.1.testDOI Listing
February 2016

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Endocr Rev 2015 Dec 22;36(6):603-21. Epub 2015 Sep 22.

Harvard National Center for Translational Research in Reproduction and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/er.2015-1045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702497PMC
December 2015

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

J Clin Endocrinol Metab 2015 Oct 24;100(10):E1378-85. Epub 2015 Jul 24.

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit (J.-H.C., R.B., N.D.S., J.E.H., L.P., C.L.B., W.F.C.), and Department of Medicine, Psychiatric, and Neurodevelopmental Genetics Unit (P.H.L.), Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Center for Human Genetic Research (J.F.G.), Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts Boston, Massachusetts 02114; Department of Genetics (M.-L.K.), University Hospital, Caen, 14003, Caen Cedex, France; Department of Biology and Pathology of Human Reproduction in Bialystok (K.J.), Institute of Animal Reproduction and Food Research, Polish Academy of Sciences, Olsztyn, and Department of Reproduction and Gynecological Endocrinology (S.W.), Medical University of Bialystok, Sklodowskiej 24A, 15-276 Bialystok, Poland; Institute for Genetic Medicine (R.Q.), Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, United Kingdom; Disciplina de Endocrinologia (A.C.L.), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil; Laboratoire de Biochimie et Génétique Moléculaire (C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, 75014 Paris, France; Departments of Molecular Endocrinology and Pediatrics (T.O.), Hamamatsu University of School of Medicine, Hamamatsu 431-3192, Japan; Section of Reproductive Endocrinology, Infertility, and Genetics (H.-G.K., L.C.L.), Departments of Obstetrics and Gynecology and Neuroscience and Regenerative Medicine, Medical College of Georgia at Georgia Regents University, Augusta, Georgia 30912; and Department of Pediatrics (J.-H.C.), Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul 138-736, Republic of Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2015-2262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596034PMC
October 2015

Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2.

J Clin Endocrinol Metab 2014 Mar 1;99(3):E561-6. Epub 2014 Jan 1.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine (R.B., J.E.H., A.A.D., N.P., W.F.C.), Massachusetts General Hospital, Boston, Massachusetts 02114; Division of Sleep Medicine (D.A.C., E.B.K., C.A.C.), Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115; and Department of Endocrinology-Hospital São João (D.P.), Department of Experimental Biology-Faculty of Medicine (D.P.), and Institute of Molecular Pathology and Immunology at the University of Porto (IPATIMUP) (D.P.), 4200-319 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-2096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942237PMC
March 2014

Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2013 Nov 13;98(11):E1790-5. Epub 2013 Sep 13.

MD, Endocrine, Diabetes, and Metabolism Service, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, Lausanne, Switzerland 1011.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-2518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816270PMC
November 2013

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

J Clin Endocrinol Metab 2013 May 26;98(5):E943-53. Epub 2013 Mar 26.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-4116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644607PMC
May 2013

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2013 Feb 22;98(2):E206-16. Epub 2013 Jan 22.

Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Reproductive Endocrine Sciences Center, Harvard Medical School, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-3294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565114PMC
February 2013

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

J Clin Endocrinol Metab 2012 Sep 28;97(9):E1798-807. Epub 2012 Jun 28.

Harvard Center for Reproductive Sciences and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, BHX 504, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-1264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431570PMC
September 2012

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

J Clin Endocrinol Metab 2012 Jan 9;97(1):E136-44. Epub 2011 Nov 9.

Harvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-2041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251934PMC
January 2012

Commentary: the year in endocrine genetics for basic scientists.

Mol Endocrinol 2011 Dec 22;25(12):1989-2002. Epub 2011 Nov 22.

Harvard Medical School, Harvard Medical School Center of Excellence in Reproductive Endocrinology (National Institute of Child Health and Human Development), MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/me.2011-1247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3231829PMC
December 2011

The puzzles of the prokineticin 2 pathway in human reproduction.

Mol Cell Endocrinol 2011 Oct 1;346(1-2):44-50. Epub 2011 Jun 1.

Harvard Reproductive Endocrine Sciences Center of Excellence, The Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2011.05.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216477PMC
October 2011

Genetic counseling for isolated GnRH deficiency.

Mol Cell Endocrinol 2011 Oct 1;346(1-2):102-9. Epub 2011 Jun 1.

Harvard Reproductive Endocrine Sciences Center & Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S030372071100296
Publisher Site
http://dx.doi.org/10.1016/j.mce.2011.05.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185214PMC
October 2011

The developmental biology of the GnRH neurons.

Mol Cell Endocrinol 2011 Oct 28;346(1-2):1-3. Epub 2011 Jun 28.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03037207110034
Publisher Site
http://dx.doi.org/10.1016/j.mce.2011.06.023DOI Listing
October 2011

Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network.

Mol Cell Endocrinol 2011 Oct 12;346(1-2):4-12. Epub 2011 Jul 12.

Harvard Reproductive Endocrine Sciences Center & The Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2011.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226734PMC
October 2011

Kisspeptin resets the hypothalamic GnRH clock in men.

J Clin Endocrinol Metab 2011 Jun 6;96(6):E908-15. Epub 2011 Apr 6.

Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, BHX 5, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-3046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100758PMC
June 2011

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Endocr Rev 2011 Apr 29;32(2):225-46. Epub 2010 Oct 29.

Harvard Center for Reproductive Endocrine Sciences, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/er.2010-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365793PMC
April 2011

Expanding the phenotype and genotype of female GnRH deficiency.

J Clin Endocrinol Metab 2011 Mar 5;96(3):E566-76. Epub 2011 Jan 5.

Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Reproductive Endocrine Sciences Center, Harvard Medical School, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-2292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047229PMC
March 2011

Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks.

Front Horm Res 2010 8;39:168-169. Epub 2010 Apr 8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000312703DOI Listing
December 2010

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Neuroendocrinology 2010 7;92(2):81-99. Epub 2010 Jul 7.

Harvard Reproductive Endocrine Sciences Center of Excellence, Reproductive Endocrine Unit of the Department of Medicine of the Massachusetts General Hospital and Endocrine Division of the Brigham and Women's Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000314193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214927PMC
December 2010

The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2010 Sep 30;95(9):4235-43. Epub 2010 Jun 30.

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit of Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-0245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936052PMC
September 2010

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Proc Natl Acad Sci U S A 2010 Aug 9;107(34):15140-4. Epub 2010 Aug 9.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1009622107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930591PMC
August 2010

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.

J Clin Endocrinol Metab 2010 Jun 9;95(6):3019-27. Epub 2010 Apr 9.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2009-2582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902061PMC
June 2010

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Sci Transl Med 2010 May;2(32):32rv2

Harvard Reproductive Endocrine Sciences Center, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936248PMC
May 2010

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.

Neuroendocrinology 2009 15;90(3):260-8. Epub 2009 Oct 15.

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit of the Department of Medicine, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000245383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826435PMC
January 2010

Changing models of biomedical research.

Sci Transl Med 2009 Oct;1(1):1cm1

Harvard Reproductive Endocrine Sciences Center, Department of Medicine, Massachusetts General Hospital, Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3000124DOI Listing
October 2009

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.

Proc Natl Acad Sci U S A 2009 Jul 30;106(28):11703-8. Epub 2009 Jun 30.

Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0903449106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710623PMC
July 2009

Safety of frequent venous blood sampling in a pediatric research population.

J Pediatr 2009 Apr 20;154(4):578-81. Epub 2008 Nov 20.

Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2008.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694723PMC
April 2009

New genes controlling human reproduction and how you find them.

Trans Am Clin Climatol Assoc 2008 ;119:29-37; discussion 37-8

Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2394706PMC
November 2008

The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men.

J Clin Endocrinol Metab 2008 Jul 29;93(7):2686-92. Epub 2008 Apr 29.

Reproductive Endocrine Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2007-2548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2453056PMC
July 2008

Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness.

Neuroendocrinology 2008 26;87(3):142-50. Epub 2007 Oct 26.

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Mass. 02114 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000112421DOI Listing
June 2008

Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function.

J Clin Endocrinol Metab 2008 May 12;93(5):1809-14. Epub 2008 Feb 12.

Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2007-2450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386680PMC
May 2008

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Proc Natl Acad Sci U S A 2007 Oct 24;104(44):17447-52. Epub 2007 Oct 24.

Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0707173104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2077276PMC
October 2007

Reversal of idiopathic hypogonadotropic hypogonadism.

N Engl J Med 2007 Aug;357(9):863-73

Harvard Center for Reproductive Endocrine Sciences and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa066494DOI Listing
August 2007

Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).

Endocrinology 2007 Jul 5;148(7):3364-70. Epub 2007 Apr 5.

Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, PA 15261, and Harvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston 02114, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/endo/article-lookup/doi/10.1210/en.
Publisher Site
http://dx.doi.org/10.1210/en.2007-0207DOI Listing
July 2007

Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

Mol Cell Endocrinol 2006 Jul 6;254-255:70-7. Epub 2006 Jun 6.

Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2006.04.019DOI Listing
July 2006

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

Mol Cell Endocrinol 2006 Jul 9;254-255:60-9. Epub 2006 Jun 9.

Reproductive Endocrine Unit of the Department of Medicine & National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, 55 Fruit St., Boston, MA 02114, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2006.04.021DOI Listing
July 2006

Testis morphology in patients with idiopathic hypogonadotropic hypogonadism.

Hum Reprod 2006 Apr 5;21(4):1033-40. Epub 2006 Jan 5.

Department of Cell Biology, Georgetown University Medical Center, Washington, DC 20057, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/dei444DOI Listing
April 2006

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Proc Natl Acad Sci U S A 2006 Apr 10;103(16):6281-6. Epub 2006 Apr 10.

Reproductive Endocrine Unit of the Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0600962103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1458869PMC
April 2006

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

J Clin Endocrinol Metab 2005 Mar 21;90(3):1317-22. Epub 2004 Dec 21.

Reproductive Endocrine Unit and National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2004-1361DOI Listing
March 2005

Recombinant factor VIIa for the treatment of severe postoperative and traumatic hemorrhage.

Am J Surg 2005 Mar;189(3):331-4

Grand Rapids/Michigan State University General Surgery Residency, Grand Rapids Medical Education and Research Center for the Health Professions, 221 Michigan St. NE, Suite 200A, Grand Rapids, MI 49502, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjsurg.2004.11.021DOI Listing
March 2005

Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.

Proc Natl Acad Sci U S A 2005 Feb 31;102(6):2129-34. Epub 2005 Jan 31.

Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0409822102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC548549PMC
February 2005

Polycystic ovarian morphology with regular ovulatory cycles: insights into the pathophysiology of polycystic ovarian syndrome.

J Clin Endocrinol Metab 2004 Sep;89(9):4343-50

Reproductive Endocrine Unit, BHX-5, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2003-031600DOI Listing
September 2004

Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.

J Clin Endocrinol Metab 2004 Mar;89(3):1053-8

Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2003-031373DOI Listing
March 2004

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

J Clin Endocrinol Metab 2003 Jun;88(6):2947-50

Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2003-030423DOI Listing
June 2003

Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2002 Sep;87(9):4128-36

Reproductive Endocrine Unit of the Department of Medicine, National Center for Infertility Research, General Clinical Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2002-020518DOI Listing
September 2002

An instrument for determining the amount of NIH support for clinical investigations at one academic health center.

Acad Med 2002 Aug;77(8):824-30

Harvard Medical School, Clinical Research Support Office, Clinical Research Program, Massachusetts General Hospital, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00001888-200208000-00015DOI Listing
August 2002

Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.

Endocr Rev 2002 Jun;23(3):382-92

Reproductive Endocrine Unit and Harvard-Wide Reproductive Endocrine Sciences Center and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/edrv.23.3.0469DOI Listing
June 2002

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

J Clin Endocrinol Metab 2002 Apr;87(4):1607-12

Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jce
Publisher Site
http://dx.doi.org/10.1210/jcem.87.4.8384DOI Listing
April 2002

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2002 Jan;87(1):152-60

Reproductive Endocrine Unit, Department of Medicine, National Center for Infertility Research, Pediatric Surgical Research Laboratory, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jcem.87.1.8131DOI Listing
January 2002