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Page 1
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations.
Genes (Basel). 2016 Nov 30;7(12):110. doi: 10.3390/genes7120110.
Genes (Basel). 2016.
PMID: 27916885
Free PMC article.
Review.
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.
Bunyan DJ, Saran M, Hobbs JI, Anderson DJ, Duncan-Flavell PJ, Howarth RJ, Callaway JLA, MacPherson JN.
Bunyan DJ, et al. Among authors: macpherson jn.
J Reprod Infertil. 2022 Oct-Dec;23(4):296-302. doi: 10.18502/jri.v23i4.10816.
J Reprod Infertil. 2022.
PMID: 36452190
Free PMC article.
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Trevino CE, Rounds JC, Charen K, Shubeck L, Hipp HS, Spencer JB, Johnston HR, Cutler DJ, Zwick ME, Epstein MP, Murray A, Macpherson JN, Mila M, Rodriguez-Revenga L, Berry-Kravis E, Hall DA, Leehey MA, Liu Y, Welt C, Warren ST, Sherman SL, Jin P, Allen EG.
Trevino CE, et al. Among authors: macpherson jn.
Fertil Steril. 2021 Sep;116(3):843-854. doi: 10.1016/j.fertnstert.2021.04.021. Epub 2021 May 18.
Fertil Steril. 2021.
PMID: 34016428
Free PMC article.
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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.
Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF.
Afawi Z, et al. Among authors: macpherson jn.
Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22.
Neurology. 2016.
PMID: 26802095
Free PMC article.
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Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A.
Bennett CE, et al. Among authors: macpherson jn.
Hum Reprod. 2010 May;25(5):1335-8. doi: 10.1093/humrep/deq058. Epub 2010 Mar 13.
Hum Reprod. 2010.
PMID: 20228389
Free PMC article.
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Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.
Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, Morris DH, Orr N, Ashworth A, Jacobs PA, Swerdlow AJ.
Murray A, et al. Among authors: macpherson jn.
Genet Med. 2014 Jan;16(1):19-24. doi: 10.1038/gim.2013.64. Epub 2013 May 23.
Genet Med. 2014.
PMID: 23703681
Free PMC article.
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