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Page 1
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.
An integrated single-cell analysis of human adrenal cortex development.
Del Valle I, Young MD, Kildisiute G, Ogunbiyi OK, Buonocore F, Simcock IC, Khabirova E, Crespo B, Moreno N, Brooks T, Niola P, Swarbrick K, Suntharalingham JP, McGlacken-Byrne SM, Arthurs OJ, Behjati S, Achermann JC. Del Valle I, et al. Among authors: suntharalingham jp. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177. JCI Insight. 2023. PMID: 37440461 Free PMC article.
Characterization of Turner Syndrome-associated diabetes mellitus.
Cameron-Pimblett A, La Rosa C, Davies MC, Suntharalingham JP, Ishida M, Achermann JC, Conway GS. Cameron-Pimblett A, et al. Among authors: suntharalingham jp. J Clin Endocrinol Metab. 2024 Jul 4:dgae357. doi: 10.1210/clinem/dgae357. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38961758
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.
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC. Guran T, et al. Among authors: suntharalingham jp. J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2. J Clin Endocrinol Metab. 2016. PMID: 26523528 Free PMC article.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Among authors: suntharalingham jp. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378692 Free PMC article.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Among authors: suntharalingham jp. Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390. Hum Mol Genet. 2016. PMID: 28031288 Free PMC article. No abstract available.
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.
20 results