Debora Braslavsky

Debora Braslavsky

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Debora Braslavsky

Debora Braslavsky

Publications by authors named "Debora Braslavsky"

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p.R209H GH1 variant challenges short stature assessment.

Growth Horm IGF Res 2019 Dec 3;50:23-26. Epub 2019 Dec 3.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2019.11.002DOI Listing
December 2019

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

Neuroendocrinology 2017 26;105(1):17-25. Epub 2016 May 26.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000446963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5195904PMC
March 2018

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

Clin Endocrinol (Oxf) 2017 Sep 14;87(3):300-311. Epub 2017 Jun 14.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET -FEI - División de Endocrinología, Hospital de Niños "Ricardo Gutiérrez", Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/cen.13361DOI Listing
September 2017

Meeting Reports: 2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights.

Pediatr Endocrinol Rev 2017 Jun;14(4):390-401

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) - CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.17458/per.vol14.2017.GBC.MR.SLEPDOI Listing
June 2017

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.

Horm Res Paediatr 2015 11;84(5):289-97. Epub 2015 Sep 11.

Centro de Investigaciones Endocrinolx00F3;gicas x2018;Dr. Cx00E9;sar Bergadx00E1;' (CEDIE), Divisix00F3;n de Endocrinologx00ED;a, Hospital de Nix00F1;os Ricardo Gutix00E9;rrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.1159/000439051DOI Listing
August 2016

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.

PLoS One 2015 8;10(5):e0126648. Epub 2015 May 8.

Aix Marseille University, CNRS UMR7286, CRN2M, Faculté de médecine, Marseille, France and Reference Center for Rare Pituitary Diseases DEFHY, La Timone Hospital, Marseille, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126648PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425544PMC
February 2016

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

J Clin Endocrinol Metab 2014 Nov 22;99(11):E2451-6. Epub 2014 Jul 22.

Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-1517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223446PMC
November 2014

Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys.

Front Endocrinol (Lausanne) 2014 7;5:51. Epub 2014 May 7.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez , Buenos Aires , Argentina.

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http://dx.doi.org/10.3389/fendo.2014.00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019849PMC
June 2014

Sertoli cell markers in the diagnosis of paediatric male hypogonadism.

J Pediatr Endocrinol Metab 2012 ;25(1-2):3-11

Centro de Investigaciones Endocrinológicas (CEDIE, CONICET), Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.1515/jpem-2011-0453DOI Listing
May 2012

Neonatal cholestasis in congenital pituitary hormone deficiency and isolated hypocortisolism: characterization of liver dysfunction and follow-up.

Arq Bras Endocrinol Metabol 2011 Nov;55(8):622-7

División de Endocrinología, Centro de Investigaciones Endocrinológicas, Buenos Aires, Argentina.

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http://dx.doi.org/10.1590/s0004-27302011000800017DOI Listing
November 2011

Spontaneous ovarian hyperstimulation syndrome caused by a follicle-stimulating hormone-secreting pituitary macroadenoma in an early pubertal girl.

Horm Res Paediatr 2010 9;73(4):293-8. Epub 2010 Mar 9.

División de Endocrinología Hospital de Niños Dr Ricardo Gutiérrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.1159/000284395DOI Listing
June 2010