Listado de Publicaciones Científicas del año 2016

List of Scientific Publications 2016


Jasper H.

Past, Present, and Future in the Relationship between Growth

Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting.

Horm Res Paediatr. 2016; 86(5):291-299. doi: 10.1159/000449287.

Epub 2016 Nov 8.


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.

Treatment with Recombinant Human Insulin-Like Growth Factor-1 Improves

Growth in Patients With PAPP-A2 Deficiency.

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


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

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

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


Camberos MD, Pérez AA, Passicot GA, Martucci LC, Wanderley MI, Udrisar DP,Cresto JC.

II - Insulin processing in mitochondria.

J Bioenerg Biomembr. 2016 Oct; 48(5):469-482.


Mathó C, Sansó G, Diez B, Barontini M, Pennisi PA.

VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.

Genet  Test  Mol  Biomarkers. 2016 Dec; 20(12):771-776.

doi: 10.1089/gtmb.2016.0204.


Arcari AJ, Gryngarten MG, Freire AV, Ballerini MG, Ropelato MG, Bergadá I, Escobar ME.

Body mass index in girls with idiopathic central precocious puberty

during and after treatment with GnRH analogues.

Int J Pediatr Endocrinol.2016; 2016: 15. doi: 10.1186/s13633-016-0033-7.


Ballerini MG, Bergadá I, Rodríguez ME, Keselman A, Bengolea VS, Pipman V,Domené HM, Jasper HG, Ropelato MG.

Insulin level  and  insulin  sensitivity  indices  among healthy children and adolescents.

Arch   Argent  Pediatr. 2016 Aug 1; 114(4):329-36. doi: 10.5546/aap.2016.329.



Grinspon RP, Nevado J, Mori Alvarez Mde L, Del Rey G, Castera R, Venara M,Chiesa A, Podestá M, Lapunzina P, Rey RA.

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

Clin Endocrinol (Oxf). 2016 Oct; 85(4):673-5. doi: 10.1111/cen.13126.


Grinspon RP, Rey RA. Disorders of Sex Development with Testicular

Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

Sex Dev. 2016; 10(1):1-11. doi: 10.1159/000445088.


Linck RW, Chemes H, Albertini DF.

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility.

J   Assist  Reprod  Genet. 2016 Feb; 33(2):141-56. doi: 10.1007/s10815-016-0652-


Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, Prasad ML, Ocal IT, Rao S, Aronin N, Barontini M, Bruder J, Reddick RL, Chen Y, Aguiar RC, Dahia PL.

Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in

Pheochromocytomas and Paragangliomas.

Clin Cancer Res. 2016 May 1; 22(9):2301-10. doi: 10.1158/1078-0432.CCR-15-1841.


Freire AV, Gryngarten MG, Ballerini MG, Arcari AJ, Escobar ME, Bergadá I,

Ropelato MG.

Assessment of Estradiol Response  after Depot Triptorelin Administration in Girls with Central Precocious Puberty.

Horm Res Paediatr.2016; 85(1):58-64. doi: 10.1159/000442523.


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

Compensatory function of the remaining testis is dissociated in boys and adolescents with monorchidism.

Eur J Endocrinol. 2016 Mar; 174(3):399-407. doi: 10.1530/EJE-15-0938.


Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO,

Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz  NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group  (Aisenberg J.;  Van Den Akker E.L.;  Bergadá, I;  Bocca G.;  Braslavsky D;  Callewaert B.;  Cummings E.A.;  Cuppen M.P.;  Dattani M.;  Domene h m;  Van Der Heyden J.C.;  Van Hulle S.;  Jacobs M.A.;  ¨Links T.P.;  Lunshof L.;  Mul D.;  Neijens F.S.;  Pedro H.F.;  Salerno M.;  De Schepper J.;  Voorhoeve p.g.;  zidell a.s.;  Van Der  Zwaag P.A.;  Zwaveling-Soonawala N).

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.

J Clin  Endocrinol Metab. 2016 Apr; 101(4):1627-36. doi: 10.1210/jc.2015-3880




Rey, R.  .

Investigación traslacional en Medicina.

Revista del Hospital de Niños (Buenos Aires). 2016   58(262):142


Pierre A, Racine C, Rey RA, Fanchin R, Taieb J, Cohen-Tannoudji J, Carmillo P,

Pepinsky RB, Cate RL, di Clemente N.

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

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


Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Cunha-Silva M,Silveira LG, Hummel T, Bergadá I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. High Frequency of MKRN3 Mutations in  Male  Central  Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology. 2017; 105(1):17-25. doi: 10.1159/000446963.


del Rey  G

The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation.

Current Trends in Endocrinology, 2016  8:65


Freire AV, Gryngarten MG, Ballerini MG, Arcari AJ, Escobar ME, Bergadá I,

Ropelato MG.

Assessment  of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty.

Horm Res Paediatr.2016; 85(1):58-64. doi: 10.1159/000442523.


Martucci LC, Gutiérrez ML, Karabatas LM, Scaglia PA, Rey RA, Domené HM, Jasper  HG, Domené S.

Assessment of pathogenicity of natural IGFALS gene variants by in

silico bioinformatics tools and in vitro functional studies.

Mol  Cell  Endocrinol. 2016 Jul 5; 429:19-28. doi: 10.1016/j.mce.2016.03.031


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.

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

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


Freire AV;  Rubino C;  Arcari a;  Ballerini MG;  Escobar de Lazzari  ME;  Gryngarten M;  Ropelato MG  .

Alta frecuencia de insulinorresistencia en adolescentes con síndrome de ovario poliquístico (SOP) independientemente del peso corporal.

Rev. soc. arg. ginecol. inf. juv. 23(3). 135-47, 2016