Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

51 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I. Braslavsky D, et al. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
Sertoli cell markers in the diagnosis of paediatric male hypogonadism.
Grinspon RP, Loreti N, Braslavsky D, Bedecarrás P, Ambao V, Gottlieb S, Bergadá I, Campo SM, Rey RA. Grinspon RP, et al. Among authors: braslavsky d. J Pediatr Endocrinol Metab. 2012;25(1-2):3-11. doi: 10.1515/jpem-2011-0453. J Pediatr Endocrinol Metab. 2012. PMID: 22570945 Review.
Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys.
Grinspon RP, Loreti N, Braslavsky D, Valeri C, Schteingart H, Ballerini MG, Bedecarrás P, Ambao V, Gottlieb S, Ropelato MG, Bergadá I, Campo SM, Rey RA. Grinspon RP, et al. Among authors: braslavsky d. Front Endocrinol (Lausanne). 2014 May 7;5:51. doi: 10.3389/fendo.2014.00051. eCollection 2014. Front Endocrinol (Lausanne). 2014. PMID: 24847309 Free PMC article. Review.
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Rajagopal A, et al. Among authors: braslavsky d. J Clin Endocrinol Metab. 2014 Nov;99(11):E2451-6. doi: 10.1210/jc.2014-1517. Epub 2014 Jul 22. J Clin Endocrinol Metab. 2014. PMID: 25050900 Free PMC article.
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C, Jullien N, Saveanu A, Caldagues E, Bergada I, Braslavsky D, Pfeifer M, Reynaud R, Herman JP, Barlier A, Brue T, Enjalbert A, Castinetti F. Rochette C, et al. Among authors: braslavsky d. PLoS One. 2015 May 8;10(5):e0126648. doi: 10.1371/journal.pone.0126648. eCollection 2015. PLoS One. 2015. PMID: 25955177 Free PMC article.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Prasad R, et al. Among authors: braslavsky d. J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165343 Free PMC article.
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. Scaglia PA, et al. Among authors: braslavsky d. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
51 results