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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.

Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, Woelfle J.

Horm Res Paediatr. 2019 Sep 12:1-14. doi: 10.1159/000502231. [Epub ahead of print]


Height Gain and Safety Outcomes in Growth Hormone-Treated Children with Idiopathic Short Stature: Experience from a Prospective Observational Study.

Child CJ, Quigley CA, Cutler GB Jr, Moore WV, Wintergerst KA, Ross JL, Rosenfeld RG, Blum WF.

Horm Res Paediatr. 2019;91(4):241-251. doi: 10.1159/000500087. Epub 2019 Jun 11.


Growth and growth hormone in Turner syndrome: Looking back, looking ahead.

Los E, Rosenfeld RG.

Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):86-90. doi: 10.1002/ajmg.c.31680. Epub 2019 Feb 27. Review.


Monitoring rhGH Safety: rhGH Registries, SAGhE and Future Needs.

Miller BS, Rosenfeld RG.

Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):150-161. doi: 10.17458/


Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW.

EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25. No abstract available.


Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V.

Endocr Rev. 2019 Apr 1;40(2):476-505. doi: 10.1210/er.2018-00146. Review.


Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program.

Child CJ, Zimmermann AG, Chrousos GP, Cummings E, Deal CL, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Pérez Sánchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld RG, Yeste D, Yorifuji T, Blum WF.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):379-389. doi: 10.1210/jc.2018-01189.


Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V.

Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0.


Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS, Backeljauw PF, Rosenfeld RG, Aisenberg J, Dauber A, Hwa V.

J Endocr Soc. 2017 Apr 1;1(4):345-358. doi: 10.1210/js.2016-1119. Epub 2017 Mar 8.


Mortality in Children Receiving Growth Hormone Treatment of Growth Disorders: Data From the Genetics and Neuroendocrinology of Short Stature International Study.

Quigley CA, Child CJ, Zimmermann AG, Rosenfeld RG, Robison LL, Blum WF.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3195-3205. doi: 10.1210/jc.2017-00214.


Biology of the somatotroph axis (after the pituitary).

Rosenfeld RG, Hwa V.

Ann Endocrinol (Paris). 2017 Jun;78(2):80-82. doi: 10.1016/j.ando.2017.04.002. Epub 2017 May 8. Review.


Pharmacokinetic and Pharmacodynamic Modeling of MOD-4023, a Long-Acting Human Growth Hormone, in Growth Hormone Deficiency Children.

Fisher DM, Rosenfeld RG, Jaron-Mendelson M, Amitzi L, Koren R, Hart G.

Horm Res Paediatr. 2017;87(5):324-332. doi: 10.1159/000470842. Epub 2017 Apr 11.


Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V.

Horm Res Paediatr. 2017;87(6):412-422. doi: 10.1159/000464143. Epub 2017 Apr 10.


Long-Acting C-Terminal Peptide-Modified hGH (MOD-4023): Results of a Safety and Dose-Finding Study in GHD Children.

Zelinska N, Iotova V, Skorodok J, Malievsky O, Peterkova V, Samsonova L, Rosenfeld RG, Zadik Z, Jaron-Mendelson M, Koren R, Amitzi L, Raduk D, Hershkovitz O, Hart G.

J Clin Endocrinol Metab. 2017 May 1;102(5):1578-1587. doi: 10.1210/jc.2016-3547.


Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.

Muñoz-Calvo MT, Barrios V, Pozo J, Chowen JA, Martos-Moreno GÁ, Hawkins F, Dauber A, Domené HM, Yakar S, Rosenfeld RG, Pérez-Jurado LA, Oxvig C, Frystyk J, Argente J.

J Clin Endocrinol Metab. 2016 Nov;101(11):3879-3883. Epub 2016 Sep 20.


Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations.

Christiansen JS, Backeljauw PF, Bidlingmaier M, Biller BM, Boguszewski MC, Casanueva FF, Chanson P, Chatelain P, Choong CS, Clemmons DR, Cohen LE, Cohen P, Frystyk J, Grimberg A, Hasegawa Y, Haymond MW, Ho K, Hoffman AR, Holly JM, Horikawa R, Höybye C, Jorgensen JO, Johannsson G, Juul A, Katznelson L, Kopchick JJ, Lee KO, Lee KW, Luo X, Melmed S, Miller BS, Misra M, Popovic V, Rosenfeld RG, Ross J, Ross RJ, Saenger P, Strasburger CJ, Thorner MO, Werner H, Yuen K.

Eur J Endocrinol. 2016 Jun;174(6):C1-8. doi: 10.1530/EJE-16-0111. Epub 2016 Mar 23.


Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GÁ, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Pérez-Jurado LA, Argente J.

EMBO Mol Med. 2016 Apr 1;8(4):363-74. doi: 10.15252/emmm.201506106.


Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes.

Child CJ, Blum WF, Deal C, Zimmermann AG, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG.

Eur J Endocrinol. 2016 May;174(5):669-79. doi: 10.1530/EJE-15-1203. Epub 2016 Feb 17.


In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone.

Hershkovitz O, Bar-Ilan A, Guy R, Felikman Y, Moschcovich L, Hwa V, Rosenfeld RG, Fima E, Hart G.

Mol Pharm. 2016 Feb 1;13(2):631-9. doi: 10.1021/acs.molpharmaceut.5b00868. Epub 2016 Jan 18.


The future of growth-promoting therapy.

Rosenfeld RG.

Growth Horm IGF Res. 2016 Jun;28:43-5. doi: 10.1016/j.ghir.2015.11.003. Epub 2015 Nov 17.


STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.

Scalco RC, Hwa V, Domené HM, Jasper HG, Belgorosky A, Marino R, Pereira AM, Tonelli CA, Wit JM, Rosenfeld RG, Jorge AA.

Eur J Endocrinol. 2015 Sep;173(3):291-6. doi: 10.1530/EJE-15-0398. Epub 2015 Jun 1.


How aggressively should we treat short stature?

Rosenfeld RG.

Horm Res Paediatr. 2015;83(4):280-1. doi: 10.1159/000374114. Epub 2015 Mar 6. No abstract available.


A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V.

Horm Res Paediatr. 2014;82(5):344-52. doi: 10.1159/000368192. Epub 2014 Nov 1.


A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24.


Genetic evaluation of short stature.

Dauber A, Rosenfeld RG, Hirschhorn JN.

J Clin Endocrinol Metab. 2014 Sep;99(9):3080-92. doi: 10.1210/jc.2014-1506. Epub 2014 Jun 10. Review.


The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TS, Damiani D, Arnhold IJ, Laron Z, Jorge AA.

Am J Med Genet A. 2014 May;164A(5):1204-8. doi: 10.1002/ajmg.a.36444. Epub 2014 Mar 24.


Dose-sparing and safety-enhancing effects of an IGF-I-based dosing regimen in short children treated with growth hormone in a 2-year randomized controlled trial: therapeutic and pharmacoeconomic considerations.

Cohen P, Weng W, Rogol AD, Rosenfeld RG, Kappelgaard AM, Germak J.

Clin Endocrinol (Oxf). 2014 Jul;81(1):71-6. doi: 10.1111/cen.12408. Epub 2014 Feb 7.


A database and website for molecular defects of the GH-IGF axis:

Rosenfeld RG, von Stein T.

Horm Res Paediatr. 2013;80(6):443-8. doi: 10.1159/000355543. Epub 2013 Dec 14.


A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V.

Horm Res Paediatr. 2013;80(6):397-405. doi: 10.1159/000355404. Epub 2013 Nov 26.


Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency.

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG.

Eur J Endocrinol. 2013 Nov 22;170(1):13-21. doi: 10.1530/EJE-13-0643. Print 2014 Jan.


Personalized approach to growth hormone treatment: clinical use of growth prediction models.

Wit JM, Ranke MB, Albertsson-Wikland K, Carrascosa A, Rosenfeld RG, Van Buuren S, Kristrom B, Schoenau E, Audi L, Hokken-Koelega AC, Bang P, Jung H, Blum WF, Silverman LA, Cohen P, Cianfarani S, Deal C, Clayton PE, de Graaff L, Dahlgren J, Kleintjens J, Roelants M.

Horm Res Paediatr. 2013;79(5):257-70. doi: 10.1159/000351025. Epub 2013 May 28.


Recent advances in growth research: nutritional, molecular and endocrine perspectives. Preface.

Gillman MW, Gluckman PD, Rosenfeld RG.

Nestle Nutr Inst Workshop Ser. 2013;71:IX-X. doi: 10.1159/000345196. Epub 2013 Jan 22. No abstract available.


Concluding remarks.

Gillman MW, Gluckman PD, Rosenfeld RG.

Nestle Nutr Inst Workshop Ser. 2013;71:223-4. doi: 10.1159/000345197. Epub 2013 Jan 22. No abstract available.


Pharmacological interventions for short stature: pros and cons.

Rosenfeld RG.

Nestle Nutr Inst Workshop Ser. 2013;71:207-17. doi: 10.1159/000342640. Epub 2013 Jan 22.


IGF-I in human growth: lessons from defects in the GH-IGF-I axis.

Hwa V, Fang P, Derr MA, Fiegerlova E, Rosenfeld RG.

Nestle Nutr Inst Workshop Ser. 2013;71:43-55. doi: 10.1159/000342548. Epub 2013 Jan 22.


Current issues on molecular diagnosis of GH signaling defects.

Feigerlova E, Hwa V, Derr MA, Rosenfeld RG.

Endocr Dev. 2013;24:118-27. doi: 10.1159/000342586. Epub 2013 Feb 1. Review.


Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.

Varco-Merth B, Feigerlová E, Shinde U, Rosenfeld RG, Hwa V, Rotwein P.

Mol Endocrinol. 2013 Jan;27(1):150-61. doi: 10.1210/me.2012-1275. Epub 2012 Nov 16.


A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.

Akıncı A, Rosenfeld RG, Hwa V.

Horm Res Paediatr. 2013;79(1):32-8. doi: 10.1159/000341527. Epub 2012 Sep 20.


Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V.

J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29.


Efficacy of IGF-based growth hormone (GH) dosing in nonGH-deficient (nonGHD) short stature children with low IGF-I is not related to basal IGF-I levels.

Cohen P, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG, Germak J; American Norditropin Study Group.

Clin Endocrinol (Oxf). 2013 Mar;78(3):405-14. doi: 10.1111/cen.12014.


Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

Fuqua JS, Derr M, Rosenfeld RG, Hwa V.

Horm Res Paediatr. 2012;78(1):59-66. doi: 10.1159/000337249. Epub 2012 Jul 20.


Identification and management of poor response to growth-promoting therapy in children with short stature.

Bang P, Ahmed SF, Argente J, Backeljauw P, Bettendorf M, Bona G, Coutant R, Rosenfeld RG, Walenkamp MJ, Savage MO.

Clin Endocrinol (Oxf). 2012 Aug;77(2):169-81. doi: 10.1111/j.1365-2265.2012.04420.x. Review.


A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.

Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V.

J Clin Endocrinol Metab. 2012 May;97(5):E830-9. doi: 10.1210/jc.2011-2554. Epub 2012 Mar 14.


Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

Marín S, Casano-Sancho P, Villarreal-Peña N, Sebastiani G, Pinillos S, Pérez-Dueñas B, Hwa V, Rosenfeld RG, Ibáñez L.

Horm Res Paediatr. 2012;77(1):63-8. doi: 10.1159/000335235. Epub 2012 Jan 21.


Long-term surveillance of growth hormone therapy.

Rosenfeld RG, Cohen P, Robison LL, Bercu BB, Clayton P, Hoffman AR, Radovick S, Saenger P, Savage MO, Wit JM.

J Clin Endocrinol Metab. 2012 Jan;97(1):68-72. doi: 10.1210/jc.2011-2294. Epub 2011 Dec 15. Review. No abstract available.


Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship.

Guevara-Aguirre J, Guevara-Aguirre M, Hwa V, Prócel P, Saavedra J, Ostrer H, Fang P, Rosenfeld RG, Kerns S, Rosenbloom AL.

Eur J Endocrinol. 2012 Mar;166(3):521-9. doi: 10.1530/EJE-11-0769. Epub 2011 Dec 14.


Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT.

J Clin Endocrinol Metab. 2012 Feb;97(2):E243-7. doi: 10.1210/jc.2011-2142. Epub 2011 Nov 30.


The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

Derr MA, Aisenberg J, Fang P, Tenenbaum-Rakover Y, Rosenfeld RG, Hwa V.

J Clin Endocrinol Metab. 2011 Nov;96(11):E1896-904. doi: 10.1210/jc.2011-1597. Epub 2011 Sep 7.


Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJ, Rosenfeld RG, Savage MO.

Endocr Rev. 2011 Aug;32(4):472-97. doi: 10.1210/er.2010-0023. Epub 2011 Apr 27. Review.


STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease.

Nadeau K, Hwa V, Rosenfeld RG.

J Pediatr. 2011 May;158(5):701-8. doi: 10.1016/j.jpeds.2010.12.042. Epub 2011 Mar 17. Review. No abstract available. Erratum in: J Pediatr. 2011 Aug;159(2):356.


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