Search Results - "Nolin, SL"

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles by Nolin, Sarah L., Brown, W. Ted, Glicksman, Anne, Houck, Jr, George E., Gargano, Alice D., Sullivan, Amy, Biancalana, Valérie, Bröndum-Nielsen, Karen, Hjalgrim, Helle, Holinski-Feder, Elke, Kooy, Frank, Longshore, John, Macpherson, James, Mandel, Jean-Louis, Matthijs, Gert, Rousseau, Francois, Steinbach, Peter, Väisänen, Marja-Leena, von Koskull, Harriet, Sherman, Stephanie L.

“…The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers…”
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The Fragile X Mental Retardation Protein FMRP Binds Elongation Factor 1A mRNA and Negatively Regulates Its Translation in Vivo by Sung, Ying Ju, Dolzhanskaya, Natalia, Nolin, Sarah L., Brown, Ted, Currie, Julia R., Denman, Robert B.

“…Loss of the RNA-binding protein FMRP (fragile X mental retardation protein) leads to fragile X syndrome, the most common form of inherited mental retardation…”
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Familial transmission of the FMR1 CGG repeat by NOLIN, S. L, LEWIS, F. A, SHERMAN, S. L, BROWN, W. T, LING LING YE, HOUCK, G. E, GLICKSMAN, A. E, LIMPRASERT, P, SHU YUN LI, ZHONG, N, ASHLEY, A. E, FEINGOLD, E

“…To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats…”
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Examination of Factors Associated with Instability of the FMR1 CGG Repeat by Ashley-Koch, Allison E., Robinson, Hazel, Glicksman, Anne E., Nolin, Sarah L., Schwartz, Charles E., Brown, W. Ted, Turner, Gillian, Sherman, Stephanie L.

“…We examined premutation-female transmissions and premutation-male transmissions of the FMR1 CGG repeat to carrier offspring, to identify factors associated…”
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Neutrophil interaction with influenza-infected epithelial cells by Ratcliffe, DR, Nolin, SL, Cramer, EB

“…An in vitro model system was used to study the early neutrophil response to influenza-infected epithelia. In the absence of serum, neutrophil adherence to…”
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Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study-preliminary data by Allingham-Hawkins, Diane J., Babul-Hirji, Riyana, Chitayat, David, Holden, Jeanette J.A., Yang, Kathy T., Lee, C., Hudson, R., Gorwill, H., Nolin, Sarah L., Glicksman, Anne, Jenkins, Edmund C., Brown, W. Ted, Howard-Peebles, Patricia N., Becchi, Cindy, Cummings, Emilie, Fallon, Lee, Seitz, Suzanne, Black, Susan H., Vianna-Morgante, Angela M., Costa, Silvia S., Otto, Paulo A., Mingroni-Netto, Regina C., Murray, Anna, Webb, J., MacSwinney, F., Dennis, N., Jacobs, Patricia A., Syrrou, Maria, Georgiou, Ioannis, Patsalis, Phillipos C., Giovannucci Uzielli, Maria L., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., Vieri, F.

“…The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from…”
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Neutrophil Interaction With Influenza-Infected Epithelial Cells by Ratcliffe, D.R., Nolin, S.L., Cramer, E.B.

“…An in vitro model system was used to study the early neutrophil response to influenza-infected epithelia. In the absence of serum, neutrophil adherence to…”
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Mosaicism in fragile X affected males by Nolin, S L, Glicksman, A, Houck, Jr, G E, Brown, W T, Dobkin, C S

“…Fragile X affected males have an expansion of a CGG repeat and a hypermethylated CpG island 5' to the FMR-1 gene. Mosaic males with both a premutation and full…”
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Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin by Dobkin, Carl S., Nolin, Sarah L., Cohen, Ira, Sudhalter, Vicki, Bialer, Martin G., Ding, Xiao-Hua, Jenkins, E. C., Zhong, Nan, Brown, W. Ted

“…The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both…”
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Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection by Dobkin, Carl, Ding, Xiao-Hua, Li, Shu-Yun, Houck Jr, George, Nolin, Sarah L., Glicksman, Anne, Zhong, Nan, Jenkins, Edmund C., Brown, W. Ted

“…Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of…”
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Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies by Jenkins, Edmund C., Wen, Guang Y., Kim, Kwang S., Zhong, Nan, Sapienza, V.J., Hong, H., Chen, James, Li, Shu-Yun, Houck Jr, George E., Ding, Xiaohua, Nolin, Sarah L., Dobkin, Carl S., Brown, W. Ted

“…We have been carrying out studies aimed at improving prenatal detection of the fragile X chromosome/mutation. Our current protocol requires a turnaround time…”
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Cloning the ends of size selected Sfi I fragments by Nolin, S L, Dobkin, C S

“…As an initial step in the physical mapping of the fragile X region a library of Sfi I ends was constructed from the size class of human Sfi I DNA fragments,…”
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Fragile X screening program in New York State by Nolin, S L, Snider, D A, Jenkins, E C, Brown, W T, Krawczun, M, Stetka, D, Houck, Jr, G, Dobkin, C S, Strong, G, Smith-Dobransky, G

“…Most fragile X [fra(X)] males in New York State have not been identified. Hence, a large number of female relatives are unaware of their risks for having an…”
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New York State screening program for fragile X syndrome: a progress report by Nolin, S L, Snider, D A, Jenkins, E C, Dobkin, C S, Patchell, K, Krawczun, M, Strong, G, Colwell, M, Victor, A, Payyapilli, T

“…New York State has established a program to screen post-pubertal mentally retarded males for the fragile X [fra(X)] syndrome. The goal of the program is to…”
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Low frequencies of apparently fragile X chromosomes in normal control cultures: a possible explanation by Jenkins, E C, Brown, W T, Brooks, J, Duncan, C J, Sanz, M M, Silverman, W P, Lele, K P, Masia, A, Katz, E, Lubin, R A

“…Low frequencies of apparently fragile X [fra(X)] chromosomes have been reported in normal control, short-term, whole blood cultures, and they have been noted…”
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