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Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.
Hum Mol Genet. 2001 May 15;10(11):1141-53. doi: 10.1093/hmg/10.11.1141.
Hum Mol Genet. 2001.
PMID: 11371507
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB.
Demirci FY, et al. Among authors: radak al.
Am J Hum Genet. 2002 Apr;70(4):1049-53. doi: 10.1086/339620. Epub 2002 Feb 20.
Am J Hum Genet. 2002.
PMID: 11857109
Free PMC article.
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A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.
Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB.
Demirci FY, et al. Among authors: radak al.
Am J Ophthalmol. 2004 Sep;138(3):504-5. doi: 10.1016/j.ajo.2004.04.019.
Am J Ophthalmol. 2004.
PMID: 15364249
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Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.
Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB.
Demirci FY, et al. Among authors: radak al.
Am J Ophthalmol. 2005 Feb;139(2):386-8. doi: 10.1016/j.ajo.2004.08.041.
Am J Ophthalmol. 2005.
PMID: 15734019
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