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Year Number of Results
2015 2
2016 3
2017 2
2018 3
2019 3
2020 1
2021 2
2022 2
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14 results
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Page 1
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Solanky N, Demetriou C, Regan L, Moore GE, Achermann JC. Suntharalingham JP, et al. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC. Suntharalingham JP, et al. Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19. doi: 10.1016/j.beem.2015.07.004. Epub 2015 Jul 14. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26303087 Free PMC article. Review.
Defective Vagal Innervation in Murine Tbx1 Mutant Hearts.
Calmont A, Anderson N, Suntharalingham JP, Ang R, Tinker A, Scambler PJ. Calmont A, et al. Among authors: suntharalingham jp. J Cardiovasc Dev Dis. 2018 Sep 23;5(4):49. doi: 10.3390/jcdd5040049. J Cardiovasc Dev Dis. 2018. PMID: 30249045 Free PMC article.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: suntharalingham jp. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Buonocore F, et al. Among authors: suntharalingham jp. J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27. J Clin Invest. 2017. PMID: 28346228 Free PMC article.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. Among authors: suntharalingham jp. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Çetinkaya S, Güran T, Kurnaz E, Keskin M, Sağsak E, Savaş Erdeve S, Suntharalingham JP, Buonocore F, Achermann JC, Aycan Z. Çetinkaya S, et al. Among authors: suntharalingham jp. J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):68-73. doi: 10.4274/jcrpe.4638. Epub 2017 Jul 24. J Clin Res Pediatr Endocrinol. 2018. PMID: 28739551 Free PMC article.
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC. Buonocore F, et al. Among authors: suntharalingham jp. J Endocr Soc. 2019 Oct 10;3(12):2341-2360. doi: 10.1210/js.2019-00306. eCollection 2019 Dec 1. J Endocr Soc. 2019. PMID: 31745530 Free PMC article.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT. Akin L, et al. Among authors: suntharalingham jp. Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906446 Free PMC article.
14 results