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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 1
2012 2
2014 2
2015 2
2016 1
2017 6
2018 1
2019 2
2020 3
2021 3
2022 1
2023 4
2024 4

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28 results

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Page 1
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.
Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, Charmandari E, Chernausek SD, Cutfield WS, Dauber A, Deeb A, Goedegebuure WJ, Hofman PL, Isganatis E, Jorge AA, Kanaka-Gantenbein C, Kashimada K, Khadilkar V, Luo XP, Mathai S, Nakano Y, Yau M. Hokken-Koelega ACS, et al. Among authors: braslavsky d. Endocr Rev. 2023 May 8;44(3):539-565. doi: 10.1210/endrev/bnad002. Endocr Rev. 2023. PMID: 36635911 Free PMC article.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: braslavsky dg. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
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. Sanguineti N, et al. Among authors: braslavsky d. Growth Horm IGF Res. 2020 Feb;50:23-26. doi: 10.1016/j.ghir.2019.11.002. Epub 2019 Dec 3. Growth Horm IGF Res. 2020. PMID: 31835104 Free PMC article.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Garcia LI, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Garrido NP, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Nuñez AP, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: braslavsky d. J Clin Endocrinol Metab. 2024 May 8:dgae320. doi: 10.1210/clinem/dgae320. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38717911
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. Maharaj A, et al. Among authors: braslavsky d. Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. Endocr Connect. 2022. PMID: 35904228 Free PMC article. 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.
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.
[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.
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez Garrido N, Patiño Mejia H, Ciaccio M, Di Palma MI, Belgorosky A, Martí MA, Kitzman JO, Camper SA, Pérez-Millán MI. Vishnopolska SA, et al. Among authors: braslavsky d. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1956-1976. doi: 10.1210/clinem/dgab177. J Clin Endocrinol Metab. 2021. PMID: 33729509 Free PMC article.
28 results