Listado de Publicaciones Científicas del año 2012

List of Scientific Articles 2012

• Alvarez Sedo C, Rawe VY, Chemes HE. Acrosomal biogenesis in humanglobozoospermia:immunocytochemical,ultrastructural and proteomic studies. Hum Reprod. 2012 Jul; 27(7):1912-21. doi: 10.1093/humrep/des126.

• Peluffo MC, Ting AY, Zamah AM, Conti M, Stouffer RL, Zelinski MB, Hennebold JD. Amphiregulin promotes the maturation of oocytes isolated from the small antral follicles of the rhesus macaque. Hum Reprod. 2012 Aug; 27(8):2430-7. doi:10.1093/humrep/des158.

• Olivares JL, Olivi GI, Verdasco C, Ortiz VA, Mayer MA, Cresto JC. Low iodine intake during pregnancy: relationship to placental development and head circumference in newborn. Endocrinol Nutr. 2012 May; 59(5):326-30. doi:10.1016/j.endonu.2011.12.005.

• Fernandez IC, Camberos M C, Passicot GA, Martucci LC, Cresto JC. Children at risk of diabetes type 1. Treatment with acetyl-L-carnitine plus nicotinamide - case reports. J Pediatr Endocrinol Metab. 2013;26(3-4):347-55.doi: 10.1515/jpem-2012-0128.

• Scaglia PA,Chiesa A,Bastida G, Pacin M,Domené HM,Gruñeiro-Papendieck L. Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene. Arq Bras Endocrinol Metabol.2012 Nov; 56(8):513-8, doi: 10.1590/S0004-27302012 000800009. 

• Keselman A, Scaglia PA, Rodríguez Prieto MS, Ballerini MG, Rodríguez ME, Ropelato MG, Bergadá I, Jasper HG, Domené HM.Type IA isolated growth growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus. Arq Bras Endocrinol Metabol. 2012 Nov; 56(8):558-63. doi:10.1590/S0004-27302012000 800016.

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

• Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo PR, Stewart Usher J,Rey RA,Martínez MP,Aszpis S. Clinical Presentation of Klinefelter`s Syndrome: Differences According to Age. Int J Endocrinol. 2012; 2012: 324835. doi: 10.1155/2012/324835.

• Heinrich JJ Terapeútica con hormona de crecimiento. Arch Argent Pediatr 2012 Dec; 110(6):462-3. doi: 10.1590/S0325-00752012000600002.

• Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L,Gruñeiro- Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene. Clin Endocrinol (Oxf). 2012 Apr; 76(4):568-76. doi:10.1111/j. 1365-2265.2011.04249.x.

• Braslavsky D, Keselman A, Chiesa A, Bergadá I. Diagnóstico de endocrinopatía congénita en neonatos con ictericia prolongada e hipoglucemia.An Pediatr (Barc). 2012 Mar; 76(3):120-6. doi:10.1016 / j.anpedi.2011.08.011.

• Grinspon RP, Loreti N, Braslavsky D, Bedecarrás  P, Ambao V, Gottlieb S, Bergadá I, Campo SM, Rey RA. Sertoli cell markers in the diagnosis of paediatric male hypogonadism. J Pediatr Endocrinol Metab. 2012; 25(1-2):3-11.

• Riera MF, Regueira M, Galardo MN, Pellizzari EH, Meroni SB, Cigorraga SB.Signal transduction pathways in FSH regulation of rat Sertoli cell proliferation.Am J Physiol Endocrinol Metab. 2012 Apr 15; 302(8):E914-23. doi:10.1152/ajpendo.00477.2011.

• Chemes HE, Alvarez Sedo C. Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail. Asian J Androl. 2012 Jan; 14(1):14-23. doi: 10.1038/aja.2011.168.

• Fernández MC, Venara M, Nowicki S, Chemes HE, Barontini M, Pennisi PA. Igf-I regulates pheochromocytoma cell proliferation and survival in vitro and in vivo. Endocrinology 2012 Aug; 153(8):3724-34. doi: 10.1210/en.2012-1107.

• Rey RA. Early orchiopexy to prevent germ cell loss during infancy in congenital cryptorchidism. J Clin Endocrinol Metab. 2012 Dec; 97(12):4358-61. doi:10.1210/jc.2012-3662.

• Grinspon R, Chemes H, Rey RA. Decline in serum antimüllerian hormone due to androgen action in early puberty in les. Fertil Steril. 2012 Sep; 98(3):e23.doi: 10.1016/j.fertnstert.2012.06.003.

• Josso N, Rey R, Picard JY. Testicular anti-Müllerian hormone: clinical  applications in DSD. Semin Reprod Med. 2012 Oct; 30(5):364-73. doi:10.1055/s-0032-1324719.

• Grinspon RP, Ropelato MG, Bedecarrás P, Loreti N, Ballerini MG, Gottlieb S,Campo SM, Rey RA.Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age: pathophysiological aspects and diagnostic usefulness.Clin Endocrinol (Oxf). 2012 May; 76(5):698-705.doi: 10.1111/j. 1365-2265.2011.04297.x.

• Grynberg M, Pierre A, Rey R, Leclerc A, Arouche N, Hesters L, Catteau-JonardS, Frydman R, Picard JY, Fanchin R, Veitia R, di Clemente N, Taieb J.Differential regulation of ovarian anti-müllerian hormone (AMH) by estradiol through α- and β-estrogen receptors.J Clin Endocrinol Metab. 2012 Sep; 97(9):E1649-57. doi: 10.1210/jc.2011-3133.

• Guerra-Junior G, Latronico AC, Hiort O, Rey R. Disorders of sex development and hypogonadism: genetics, mechanism, and therapies. Int J Endocrinol. 2012; 2012:820373. doi: 10.1155/2012/820373.

• Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, AbermilN,Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J,Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD,Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB,Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.Clin Cancer Res. 2012 May 15; 18(10):2828-37 doi: 10.1158/1078-0432.CCR-12-0160

• Matzkin ME, Pellizzari EH, Rossi SP, Calandra RS, Cigorraga SB, Frungieri MB. Exploring the cyclooxygenase 2 (COX2)/15d-Δ(12,14)PGJ(2) system in hamster Sertoli cells: regulation by FSH/testosterone and relevance to glucose uptake.Gen Comp Endocrinol. 2012 Nov 1;179(2):254-64.doi: 10.1016/j.ygcen.2012.08.020.

• Matzkin ME, Ambao V, Carino MH, Rossi SP, González L, Turyn D, Campo S, Calandra RS, Frungieri MB. Prolactin (PRL) induction of cyclooxygenase 2 (COX2) expression and Acta pediatrica de Mexicoprostaglandin (PG) production in hamster Leydig cells. Mol Cell Endocrinol. 2012 Jan 2; 348(1):33-46. doi: 10.1016/j.mce.2011.07.029.

• Pérez CV, Sobarzo CM,Jacobo PV, Pellizzari EH, Cigorraga SB, Denduchis B, Lustig L. Loss of occludin expression and impairment of blood-testis barrier permeability in rats with autoimmune orchitis: effect of interleukin 6 on Sertoli cell tight junctions. Biol Reprod. 2012 Nov 29; 87(5):122. doi:10.1095/biolreprod.112.101709.

• Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L,Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Genetic analysis of short children with apparent growth hormone insensitivity. Horm Res Paediatr. 2012; 77(5):320-33. doi: 10.1159/000338462.

• Fernández MM, González D, Williams JM, Roman RJ, Nowicki S. Inhibitors of 20-hydroxyeicosatetraenoic acid (20-HETE) formation attenuate the natriuretic effect of dopamine. Eur J Pharmacol. 2012 Jul 5; 686(1-3):97-103. doi:10.1016/j.ejphar.2012.04.039.

• Chiesa A, Fraga C, Prieto L, Pardo ML. Modelo de atención de pacientes con fenilcetonuria (PKU) en Argentina. Acta pediátrica de México 33(6); 398-10, 2012.

• Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B,Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. doi: 10.1038/ng.2275.

• Genovese G, Regueira M, Piazza Y, Towle DW, Maggese MC, Lo Nostro F.Time-course recovery of estrogen-responsive genes of a cichlid fish exposed to waterborne octylphenol. Aquat Toxicol. 2012 Jun 15; 114-115:1-13. doi: 10.1016/j.aquatox.2012.02.005.

• Chiesa A, Olcese MC, Papendieck P, Martinez A, Vieites A, Bengolea S,Targovnik HM, Rivolta CM, Gruñeiro-Papendieck L. Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH). Endocrine. 2012 Feb; 41(1):130-7. doi: 10.1007/s12020-011-9518-6.

• Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1037-49. doi: 10.1007/s10545-012-9477-y.

• Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38.doi: 10.1210/jc.2012-2102