Search Results - "Herlihy, Amy S."

The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison by Herlihy, Amy S, Halliday, Jane L, Cock, Megan L, McLachlan, Robert I

“…Objective: To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international…”
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Expression of the O -Glycosylation Enzyme GalNAc-T3 in the Equatorial Segment Correlates with the Quality of Spermatozoa by Nygaard, Marie B, Herlihy, Amy S, Jeanneau, Charlotte, Nielsen, John E, Bennett, Eric Paul, Jørgensen, Niels, Clausen, Henrik, Mandel, Ulla, Rajpert-De Meyts, Ewa, Almstrup, Kristian

“…We question whether the expression of GalNAc-T3, the only known -GalNAc-transferase present in germ cells, is correlated with qualitative and functional…”
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Screening for Klinefelter syndrome by Herlihy, Amy S., McLachlan, Robert I.

“…To examine recently published evidence that may inform the need for population screening of Klinefelter syndrome; by far the most common chromosomal disorder…”
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The psychosocial impact of Klinefelter syndrome and factors influencing quality of life by Herlihy, Amy S., McLachlan, Robert I., Gillam, Lynn, Cock, Megan L., Collins, Veronica, Halliday, Jane L.

“…There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact…”
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Postnatal screening for Klinefelter syndrome: is there a rationale? by Herlihy, Amy S, Gillam, Lynn, Halliday, Jane L, McLachlan, Robert I

“…Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low…”
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis by Godler, David E, Inaba, Yoshimi, Schwartz, Charles E, Bui, Quang M, Shi, Elva Z, Li, Xin, Herlihy, Amy S, Skinner, Cindy, Hagerman, Randi J, Francis, David, Amor, David J, Metcalfe, Sylvia A, Hopper, John L, Slater, Howard R

“…Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed…”
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Is paternal age playing a role in the changing prevalence of Klinefelter syndrome? by Herlihy, Amy S, Halliday, Jane

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Identity of M2A (D2-40) antigen and gp36 (Aggrus, T1A-2, podoplanin) in human developing testis, testicular carcinoma in situ and germ-cell tumours by SI BRASK SONNE, HERLIHY, Amy S, HOEI-HANSEN, Christina E, NIELSEN, John E, ALMSTRUP, Kristian, SKAKKEBAEK, Niels E, MARKS, Alexander, LEFFERS, Henrik, RAJPERT-DE MEYTS, Ewa

“…Testicular germ-cell tumours of young adults are derived from a pre-invasive intratubular lesion, carcinoma in situ (CIS). In a recent genome-wide gene…”
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Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study by Inaba, Yoshimi, Herlihy, Amy S., Schwartz, Charles E., Skinner, Cindy, Bui, Quang M., Cobb, Joanna, Shi, Elva Z., Francis, David, Arvaj, Alison, Amor, David J., Pope, Kate, Wotton, Tiffany, Cohen, Jonathan, Hewitt, Jacqueline K., Hagerman, Randi J., Metcalfe, Sylvia A., Hopper, John L., Loesch, Danuta Z., Slater, Howard R., Godler, David E.

“…Purpose: We show that a novel fragile X–related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y ( SRY )…”
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CDH1 (E-cadherin) in testicular germ cell neoplasia: suppressed translation of mRNA in pre-invasive carcinoma in situ but increased protein levels in advanced tumours by SONNE, SI B., HOEI-HANSEN, CHRISTINA E., NIELSEN, JOHN E., HERLIHY, AMY S., ANDERSSON, ANNA-MARIA, ALMSTRUP, KRISTIAN, DAUGAARD, GEDSKE, SKAKKEBAEK, NIELS E., LEFFERS, HENRIK, RAJPERT-DE MEYTS, EWA

“…E‐cadherin (CDH1) is a transmembrane glycoprotein involved in cellular adhesion. In our recent microarray studies of testicular germ cell tumours (TGCTs) and…”
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Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4 by Kile, Benjamin T., Viney, Elizabeth M., Willson, Tracy A., Brodnicki, Thomas C., Cancilla, Michael R., Herlihy, Amy S., Croker, Ben A., Baca, Manuel, Nicola, Nicos A., Hilton, Douglas J., Alexander, Warren S.

“…Members of the suppressor of cytokine signalling (SOCS) family of proteins have been shown to inhibit cytokine signalling via direct interactions with JAK…”
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