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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292.
Hum Mutat. 2010.
PMID: 20506337
Free PMC article.
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Guegan K, Stals K, Day M, Turnpenny P, Ellard S.
Guegan K, et al.
Clin Genet. 2012 Jul;82(1):33-40. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31.
Clin Genet. 2012.
PMID: 21752016
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Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, Bockenhauer D, Hoff WV, Waters AM.
Quinlan C, et al. Among authors: guegan k.
Pediatr Nephrol. 2012 Apr;27(4):581-8. doi: 10.1007/s00467-011-2046-z. Epub 2011 Nov 20.
Pediatr Nephrol. 2012.
PMID: 22101457
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V.
Angelozzi M, et al. Among authors: guegan k.
J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1.
J Med Genet. 2022.
PMID: 35232796
Free PMC article.
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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G.
MacPherson MJ, et al. Among authors: guegan k.
Cell Rep. 2021 Jun 8;35(10):109226. doi: 10.1016/j.celrep.2021.109226.
Cell Rep. 2021.
PMID: 34107259
Free article.
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