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Page 1
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12.
N Engl J Med. 2023.
PMID: 37043637
Free PMC article.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST, Chatzikyriakou P, Carroll PV, McGowan BM, Velusamy A, White G, Obholzer R, Akker S, Tufton N, Casey RT, Maher ER, Park SM, Porteous M, Dyer R, Tan T, Wernig F, Brady AF, Kosicka-Slawinska M, Whitelaw BC, Dorkins H, Lalloo F, Brennan P, Carlow J, Martin R, Mitchell AL, Harrison R, Hawkes L, Newell-Price J, Kelsall A, Igbokwe R, Adlard J, Schirwani S, Davidson R, Morrison PJ, Chung TT, Bowles C, Izatt L.
Williams ST, et al. Among authors: igbokwe r.
Clin Endocrinol (Oxf). 2022 Apr;96(4):499-512. doi: 10.1111/cen.14594. Epub 2021 Sep 24.
Clin Endocrinol (Oxf). 2022.
PMID: 34558728
Free article.
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Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.
Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, Bertherat J, Blankenstein O, Bonomi M, Bouvattier C, Brac de la Perrière A, Brucker S, Cappa M, Chanson P, Claahsen-van der Grinten HL, Colao A, Cools M, Davies JH, Dörr HG, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Léger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtková J, Yeste D, Lajic S, Reisch N.
Nowotny H, et al. Among authors: igbokwe r.
Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554.
Eur J Endocrinol. 2022.
PMID: 35235536
Free PMC article.
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Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial.
Mullen M, Jin XY, Child A, Stuart AG, Dodd M, Aragon-Martin JA, Gaze D, Kiotsekoglou A, Yuan L, Hu J, Foley C, Van Dyck L, Knight R, Clayton T, Swan L, Thomson JDR, Erdem G, Crossman D, Flather M; AIMS Investigators.
Mullen M, et al.
Lancet. 2019 Dec 21;394(10216):2263-2270. doi: 10.1016/S0140-6736(19)32518-8. Epub 2019 Dec 10.
Lancet. 2019.
PMID: 31836196
Free PMC article.
Clinical Trial.
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Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L.
Foster A, et al. Among authors: igbokwe r.
Clin Genet. 2020 Jul;98(1):19-31. doi: 10.1111/cge.13752. Epub 2020 May 4.
Clin Genet. 2020.
PMID: 32291752
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