Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Anne Glicksman"'
Autor:
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carrie
Externí odkaz:
https://doaj.org/article/3377385c90104102a02fb3c4967bb34b
Autor:
Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Introduction: Fragile X syndrome (FXS) is a common form of X-linked intellectual and developmental disability with a prevalence of 1/4000–5000 in males and 1/6000–8000 in females. Most cases of the syndrome result from expansion of a premutation
Externí odkaz:
https://doaj.org/article/85f39036183544a09bd54f90a3ea85fe
Autor:
Emily G. Allen, Anne Glicksman, Nicole Tortora, Krista Charen, Weiya He, Ashima Amin, Heather Hipp, Lisa Shubeck, Sarah L. Nolin, Stephanie L. Sherman
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linea
Externí odkaz:
https://doaj.org/article/429d4b79ba8848cc8da417e13b63f334
Autor:
Jessica Klusek, Anna Porter, Leonard Abbeduto, Tatyana Adayev, Flora Tassone, Marsha R. Mailick, Anne Glicksman, Bridgette L. Tonnsen, Jane E. Roberts
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Historically, investigations of FMR1 have focused almost exclusively on the clinical effects of CGG expansion within the categories of the premutation (55–200 CGG repeats) and fragile X syndrome (>200 CGG repeats). However, emerging evidence sugges
Externí odkaz:
https://doaj.org/article/b865b905c0204a2a9811d769a4d0c20d
Autor:
Weiya He, Sarah L. Nolin, Krista Charen, Katharine E. Shelly, Nicole Tortora, Lisa Shubeck, Stephanie L. Sherman, Heather S. Hipp, Bonnie McKinnon, Emily G. Allen, Anne Glicksman, Ashima Amin
Publikováno v:
Genetics in Medicine
Purpose Approximately 20–30% of women with an FMR1 premutation experience fragile X–associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at t
Autor:
Emily G. Allen, Stephanie L. Sherman, Gary J. Latham, James N. Macpherson, Andrew Hadd, Nicole Tortora, Carl Dobkin, Anne Glicksman, Angela Maria Vianna-Morgante, Sarah L. Nolin, Montserrat Milà
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a
Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in u
Autor:
Sarah L. Nolin, Stephanie L. Sherman, Emily G. Allen, Lisa Shubeck, Krista Charen, Heather S. Hipp, Weiya He, Nicole Tortora, Ashima Amin, Anne Glicksman
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Frontiers in Genetics
Frontiers in Genetics
Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linea
Autor:
Sachin Sah, W. Ted Brown, Nicole Ersalesi, Sarah L. Nolin, Anne Glicksman, Ru Cao, Andrew Hadd, Eliot Blatt, Gary J. Latham, Carl Dobkin
Publikováno v:
Genetics in Medicine. 17:358-364
Fragile X CGG repeat alleles often contain one or more AGG interruptions that influence allele stability and risk of a full mutation transmission from parent to child. We have examined transmissions of maternal and paternal alleles with 45–90 repea
Autor:
Anne Glicksman, Stephanie L. Sherman, W. Ted Brown, Nicole Ersalesi, Sarah L. Nolin, Xiaohua Ding, Carl Dobkin
Publikováno v:
Prenatal Diagnosis. 31:925-931
Objective To determine risks of expansion for normal, intermediate, and premutation FMR1 CGG repeats. Methods PCR was used to compare the FMR1 alleles in prenatal (chorionic villi and amniocytes) and parental samples collected from 1991 to 2010. Pren
Autor:
Edmund C. Jenkins, Carl Dobkin, Sarah L. Nolin, George E. Houck, Nan Zhong, Shuyun Li, W. Ted Brown, Anne Glicksman, Xiaohua Ding
Publikováno v:
American Journal of Medical Genetics. 83:338-341
Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification