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Items: 1 to 50 of 253

1.

A balanced translocation in Kallmann Syndrome implicates a long noncoding RNA, RMST, as a GnRH neuronal regulator.

Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF.

J Clin Endocrinol Metab. 2019 Oct 19. pii: dgz011. doi: 10.1210/clinem/dgz011. [Epub ahead of print]

PMID:
31628846
2.

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

Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697.

PMID:
31220265
3.

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

Cox KH, Oliveira LMB, Plummer L, Corbin B, Gardella T, Balasubramanian R, Crowley WF.

Hum Mol Genet. 2018 Jan 15;27(2):338-350. doi: 10.1093/hmg/ddx404.

4.

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Balasubramanian R, Crowley WF Jr.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):507-515. doi: 10.1002/ajmg.c.31585. Epub 2017 Nov 20. Review.

5.

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N.

EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376.

6.

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

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
7.

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.

Balasubramanian R, Crowley WF Jr.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 May 23 [updated 2017 Mar 2].

8.

MicroRNA-7a2 suppression causes hypogonadotropism and uncovers signaling pathways in gonadotropes.

Crowley WF, Balasubramanian R.

J Clin Invest. 2017 Mar 1;127(3):796-797. doi: 10.1172/JCI92846. Epub 2017 Feb 20.

9.

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

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

10.

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

Stamou MI, Cox KH, Crowley WF Jr.

Endocr Rev. 2016 Feb;2016(1):4-22. doi: 10.1210/er.2015-1045.2016.1.test. Review.

PMID:
27454361
11.

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

Stamou MI, Cox KH, Crowley WF Jr.

Endocr Rev. 2015 Dec;36(6):603-21. doi: 10.1210/er.2015-1045. Epub 2015 Sep 22. Review.

12.

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

Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr.

J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24.

13.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr.

Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3.

14.

Endocrine Society 2014 Laureate Awards.

Gustafsson JA, Katzenellenbogen B, Jameson JL, Roth J, Melmed S, McDonnell D, Wartofsky L, Crowley WF Jr, Griz LH, Becker C, Moore DD, Drucker D, Singh N, O'Malley B.

Horm Cancer. 2014 Oct;5(5):339-55. doi: 10.1007/s12672-014-0193-y. No abstract available.

PMID:
25091407
15.

Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism.

Salian-Mehta S, Xu M, Knox AJ, Plummer L, Slavov D, Taylor M, Bevers S, Hodges RS, Crowley WF Jr, Wierman ME.

J Clin Endocrinol Metab. 2014 Apr;99(4):1452-60. doi: 10.1210/jc.2013-3426. Epub 2014 Jan 29.

16.

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

Balasubramanian R, Cohen DA, Klerman EB, Pignatelli D, Hall JE, Dwyer AA, Czeisler CA, Pitteloud N, Crowley WF.

J Clin Endocrinol Metab. 2014 Mar;99(3):E561-6. doi: 10.1210/jc.2013-2096. Epub 2014 Jan 1.

17.

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

Dwyer AA, Sykiotis GP, Hayes FJ, Boepple PA, Lee H, Loughlin KR, Dym M, Sluss PM, Crowley WF Jr, Pitteloud N.

J Clin Endocrinol Metab. 2013 Nov;98(11):E1790-5. doi: 10.1210/jc.2013-2518. Epub 2013 Sep 13.

18.

Forging stronger partnerships between academic health centers and patient-driven organizations.

Gallin EK, Bond E, Califf RM, Crowley WF Jr, Davis P, Galbraith R, Reece EA.

Acad Med. 2013 Sep;88(9):1220-4. doi: 10.1097/ACM.0b013e31829ed2a7. Review.

PMID:
23887007
19.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

20.

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

Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.

21.

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

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

22.

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

Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE.

J Clin Endocrinol Metab. 2013 Feb;98(2):E206-16. doi: 10.1210/jc.2012-3294. Epub 2013 Jan 22.

23.

An ancient founder mutation in PROKR2 impairs human reproduction.

Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N.

Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5.

24.

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

Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1798-807. doi: 10.1210/jc.2012-1264. Epub 2012 Jun 28.

25.

Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.

Welt CK, Styrkarsdottir U, Ehrmann DA, Thorleifsson G, Arason G, Gudmundsson JA, Ober C, Rosenfield RL, Saxena R, Thorsteinsdottir U, Crowley WF, Stefansson K.

J Clin Endocrinol Metab. 2012 Jul;97(7):E1342-7. doi: 10.1210/jc.2011-3478. Epub 2012 Apr 30.

26.

Commentary: the year in endocrine genetics for basic scientists.

Crowley WF Jr.

Mol Endocrinol. 2011 Dec;25(12):1989-2002. doi: 10.1210/me.2011-1247. Epub 2011 Nov 22.

27.

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

Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF Jr, Balasubramanian R.

J Clin Endocrinol Metab. 2012 Jan;97(1):E136-44. doi: 10.1210/jc.2011-2041. Epub 2011 Nov 9.

28.

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

Balasubramanian R, Crowley WF Jr.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):4-12. doi: 10.1016/j.mce.2011.07.012. Epub 2011 Jul 12. Review. No abstract available.

29.

The developmental biology of the GnRH neurons.

Crowley WF.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):1-3. doi: 10.1016/j.mce.2011.06.023. Epub 2011 Jun 28. No abstract available.

PMID:
21741438
30.

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE.

Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11524-9. doi: 10.1073/pnas.1102284108. Epub 2011 Jun 23.

31.

Genetic counseling for isolated GnRH deficiency.

Au MG, Crowley WF Jr, Buck CL.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):102-9. doi: 10.1016/j.mce.2011.05.041. Epub 2011 Jun 1. Review.

32.

The puzzles of the prokineticin 2 pathway in human reproduction.

Balasubramanian R, Plummer L, Sidis Y, Pitteloud N, Martin C, Zhou QY, Crowley WF Jr.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):44-50. doi: 10.1016/j.mce.2011.05.040. Epub 2011 Jun 1. Review.

33.

Kisspeptin resets the hypothalamic GnRH clock in men.

Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF Jr, Ren C, Chan KK, Seminara SB.

J Clin Endocrinol Metab. 2011 Jun;96(6):E908-15. doi: 10.1210/jc.2010-3046. Epub 2011 Apr 6.

34.

A genetic basis for functional hypothalamic amenorrhea.

Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF Jr, Martin KA, Hall JE, Pitteloud N.

N Engl J Med. 2011 Jan 20;364(3):215-25. doi: 10.1056/NEJMoa0911064.

35.

Expanding the phenotype and genotype of female GnRH deficiency.

Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE.

J Clin Endocrinol Metab. 2011 Mar;96(3):E566-76. doi: 10.1210/jc.2010-2292. Epub 2011 Jan 5.

36.

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

Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF Jr.

Endocr Rev. 2011 Apr;32(2):225-46. doi: 10.1210/er.2010-0007. Epub 2010 Oct 29. Review.

37.

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N.

Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4. doi: 10.1073/pnas.1009622107. Epub 2010 Aug 9.

38.

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

Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, Kaiser UB, Crowley WF Jr.

Neuroendocrinology. 2010;92(2):81-99. doi: 10.1159/000314193. Epub 2010 Jul 7. Review.

39.

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

Dwyer AA, Hayes FJ, Plummer L, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2010 Sep;95(9):4235-43. doi: 10.1210/jc.2010-0245. Epub 2010 Jun 30.

40.

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

Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF Jr.

Sci Transl Med. 2010 May 19;2(32):32rv2. doi: 10.1126/scitranslmed.3000288. Review.

41.

A high-throughput small-molecule ligand screen targeted to agonists and antagonists of the G-protein-coupled receptor GPR54.

Kuohung W, Burnett M, Mukhtyar D, Schuman E, Ni J, Crowley WF, Glicksman MA, Kaiser UB.

J Biomol Screen. 2010 Jun;15(5):508-17. doi: 10.1177/1087057110369701. Epub 2010 May 10.

42.

Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks.

Ravikumar B, Crowley WF Jr.

Front Horm Res. 2010;39:168-169. doi: 10.1159/000312703. Epub 2010 Apr 8. No abstract available.

PMID:
20389094
43.

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

Sykiotis GP, Hoang XH, Avbelj M, Hayes FJ, Thambundit A, Dwyer A, Au M, Plummer L, Crowley WF Jr, Pitteloud N.

J Clin Endocrinol Metab. 2010 Jun;95(6):3019-27. doi: 10.1210/jc.2009-2582. Epub 2010 Apr 9.

44.

Changing models of biomedical research.

Crowley WF Jr, Gusella JF.

Sci Transl Med. 2009 Oct 7;1(1):1cm1. doi: 10.1126/scitranslmed.3000124.

PMID:
20368150
45.

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB.

J Clin Endocrinol Metab. 2010 Jun;95(6):2857-67. doi: 10.1210/jc.2009-2320. Epub 2010 Mar 23.

46.

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

Pitteloud N, Thambundit A, Dwyer AA, Falardeau JL, Plummer L, Caronia LM, Hayes FJ, Lee H, Boepple PA, Crowley WF Jr.

Neuroendocrinology. 2009;90(3):260-8. doi: 10.1159/000245383. Epub 2009 Oct 15.

47.

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.

Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF Jr, Amory JK, Pitteloud N, Seminara SB.

Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11703-8. doi: 10.1073/pnas.0903449106. Epub 2009 Jun 30.

48.

Translational careers.

Andrews N, Burris JE, Cech TR, Coller BS, Crowley WF Jr, Gallin EK, Kelner KL, Kirch DG, Leshner AI, Morris CD, Nguyen FT, Oates J, Sung NS.

Science. 2009 May 15;324(5929):855. doi: 10.1126/science.1172137. No abstract available.

49.

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

Broder-Fingert S, Crowley WF Jr, Boepple PA.

J Pediatr. 2009 Apr;154(4):578-81. doi: 10.1016/j.jpeds.2008.10.007. Epub 2008 Nov 20.

50.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH.

Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17.

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