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Items: 1 to 20 of 60

1.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Ramírez L, Sanguineti N, Scaglia P, Keselman A, Ballerini MG, Karabatas L, Landi E, Castro J, Domené S, Pennisi P, Jasper H, Rey RA, Vázquez M, Domené H, Bergadá I, Gutiérrez M.

Growth Horm IGF Res. 2019 Dec 27;50:61-70. doi: 10.1016/j.ghir.2019.12.005. [Epub ahead of print]

PMID:
31902742
2.

p.R209H GH1 variant challenges short stature assessment.

Sanguineti N, Braslavsky D, Scaglia PA, Keselman A, Ballerini MG, Ropelato MG, Suco S, Vishnopolska S, Berenstein AJ, Jasper H, Domené HM, Rey RA, Pérez Millán MI, Camper SA, Bergadá I.

Growth Horm IGF Res. 2019 Dec 3;50:23-26. doi: 10.1016/j.ghir.2019.11.002. [Epub ahead of print]

PMID:
31835104
3.

Molecular Characterization of XX Maleness.

Grinspon RP, Rey RA.

Int J Mol Sci. 2019 Dec 3;20(23). pii: E6089. doi: 10.3390/ijms20236089. Review.

4.

Safety of standardised treatments for haematologic malignancies as regards to testicular endocrine function in children and teenagers.

Grinspon RP, Arozarena M, Prada S, Bargman G, Sanzone M, Morales Bazurto M, Gutiérrez M, Bedecarrás P, Kannemann A, Elena GO, Gottlieb S, Berenstein AJ, Ropelato MG, Bergadá I, Aversa LA, Rey RA.

Hum Reprod. 2019 Dec 1;34(12):2480-2494. doi: 10.1093/humrep/dez216.

PMID:
31768530
5.

CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis.

Edelsztein NY, Kashimada K, Schteingart HF, Rey RA.

Mol Reprod Dev. 2019 Nov 22. doi: 10.1002/mrd.23302. [Epub ahead of print]

PMID:
31755607
6.

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA.

Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563.

PMID:
31539878
7.

Hypogonadism in Pediatric Health: Adult Medicine Concepts Fail.

Grinspon RP, Freire AV, Rey RA.

Trends Endocrinol Metab. 2019 Dec;30(12):879-890. doi: 10.1016/j.tem.2019.08.002. Epub 2019 Aug 27. Review.

PMID:
31471249
8.

Importance of the Androgen Receptor Signaling in Gene Transactivation and Transrepression for Pubertal Maturation of the Testis.

Edelsztein NY, Rey RA.

Cells. 2019 Aug 9;8(8). pii: E861. doi: 10.3390/cells8080861. Review.

9.

A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.

Schteingart HF, Picard JY, Valeri C, Marshall I, Treton D, di Clemente N, Rey RA, Josso N.

Hum Mol Genet. 2019 Oct 1;28(19):3211-3218. doi: 10.1093/hmg/ddz147.

PMID:
31238341
10.

Paediatric and adult-onset male hypogonadism.

Salonia A, Rastrelli G, Hackett G, Seminara SB, Huhtaniemi IT, Rey RA, Hellstrom WJG, Palmert MR, Corona G, Dohle GR, Khera M, Chan YM, Maggi M.

Nat Rev Dis Primers. 2019 May 30;5(1):38. doi: 10.1038/s41572-019-0087-y. Review.

11.

Comparing the role of anti-Müllerian hormone as a marker of FSH action in male and female fertility.

Urrutia M, Grinspon RP, Rey RA.

Expert Rev Endocrinol Metab. 2019 May;14(3):203-214. doi: 10.1080/17446651.2019.1590197. Epub 2019 Mar 18.

PMID:
30880521
12.

Male Central Hypogonadism in Paediatrics - the Relevance of Follicle-stimulating Hormone and Sertoli Cell Markers.

Grinspon RP, Urrutia M, Rey RA.

Eur Endocrinol. 2018 Sep;14(2):67-71. doi: 10.17925/EE.2018.14.2.67. Epub 2018 Sep 10. Review.

13.

Androgens downregulate anti-Müllerian hormone promoter activity in the Sertoli cell through the androgen receptor and intact steroidogenic factor 1 sites.

Edelsztein NY, Racine C, di Clemente N, Schteingart HF, Rey RA.

Biol Reprod. 2018 Dec 1;99(6):1303-1312. doi: 10.1093/biolre/ioy152.

PMID:
29985989
14.

Anti-Müllerian Hormone and Testicular Function in Prepubertal Boys With Cryptorchidism.

Grinspon RP, Gottlieb S, Bedecarrás P, Rey RA.

Front Endocrinol (Lausanne). 2018 Apr 25;9:182. doi: 10.3389/fendo.2018.00182. eCollection 2018.

15.

Commentary on sperm DNA fragmentation testing clinical guideline.

Rey RA.

Transl Androl Urol. 2017 Sep;6(Suppl 4):S522-S524. doi: 10.21037/tau.2017.03.19. No abstract available.

16.

Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development.

Freire AV, Grinspon RP, Rey RA.

Sex Dev. 2018;12(1-3):30-40. doi: 10.1159/000479572. Epub 2017 Aug 30. Review.

PMID:
28850950
17.

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

Kranenburg LJC, Reerds STH, Cools M, Alderson J, Muscarella M, Magrite E, Kuiper M, Abdelgaffar S, Balsamo A, Brauner R, Chanoine JP, Deeb A, Fechner P, German A, Holterhus PM, Juul A, Mendonca BB, Neville K, Nordenstrom A, Oostdijk W, Rey RA, Rutter MM, Shah N, Luo X, Grijpink K, Drop SLS.

Horm Res Paediatr. 2017;88(2):127-139. doi: 10.1159/000475992. Epub 2017 Jul 7.

PMID:
28689203
18.

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak MS, Rey RA, Jasper HG, Bergadá I, Domené HM.

Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14.

PMID:
28445628
19.

Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.

Edelsztein NY, Grinspon RP, Schteingart HF, Rey RA.

Int J Pediatr Endocrinol. 2016;2016:20. Epub 2016 Oct 28. Review.

20.

Most Cleaved Anti-Müllerian Hormone Binds Its Receptor in Human Follicular Fluid but Little Is Competent in Serum.

Pierre A, Racine C, Rey RA, Fanchin R, Taieb J, Cohen-Tannoudji J, Carmillo P, Pepinsky RB, Cate RL, di Clemente N.

J Clin Endocrinol Metab. 2016 Dec;101(12):4618-4627. Epub 2016 Sep 13.

PMID:
27623067

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