HuGE Literature Finder
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Records 1-100
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Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Biological psychiatry 2019 Apr 85 (7): 563-572. Silva Ana I, Ulfarsson Magnus O, Stefansson Hreinn, Gustafsson Omar, Walters G Bragi, Linden David E J, Wilkinson Lawrence S, Drakesmith Mark, Owen Michael J, Hall Jeremy, Stefansson Ka |
Common-variant associations with fragile X syndrome.
Molecular psychiatry 2019 Mar 24 (3): 338-344. Crowley James J, Szatkiewicz Jin, Kähler Anna K, Giusti-Rodriguez Paola, Ancalade NaEshia, Booker Jessica K, Carr Jennifer L, Crawford Greg E, Losh Molly, Stockmeier Craig A, Taylor Annette K, Piven Joseph, Sullivan Patrick |
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Dysregulated Ca
Frontiers in synaptic neuroscience 2019 11 2. Danesi Claudia, Keinänen Kari, Castrén Maija |
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Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome.
Iranian journal of child neurology 2018 12 (1): 36-46. Aleyasin Seyed Ahmad, Salamat Fatemeh, Mirakhori Mojg |
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Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
American journal of medical genetics. Part A 2017 Sep . Albizua Igor, Rambo-Martin Benjamin L, Allen Emily G, He Weiya, Amin Ashima S, Sherman Stephanie |
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Gene-set analysis shows association between FMRP targets and autism spectrum disorder.
European journal of human genetics : EJHG 2017 Apr . Jansen Arija, Dieleman Gwen C, Smit August B, Verhage Matthijs, Verhulst Frank C, Polderman Tinca J C, Posthuma Daniel |
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Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.
Brain & development 2017 Feb . AlOlaby Reem Rafik, Sweha Stefan R, Silva Marisol, Durbin-Johnson Blythe, Yrigollen Carolyn M, Pretto Dalyir, Hagerman Randi J, Tassone Flo |
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Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.
Prenatal diagnosis 2017 Jan 37 (1): 37-42. Finucane Brenda, Lincoln Sharyn, Bailey Lindsay, Martin Christa Le |
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Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.
JBRA assisted reproduction 2017 12 21 (4): 327-329. Peyser Alexandra, Singer Tomer, Mullin Christine, Hershlag Avn |
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Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study).
Fertility and sterility 2016 Nov . Pastore Lisa M, Young Steven L, Manichaikul Ani, Baker Valerie L, Wang Xin Q, Finkelstein Joel |
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Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
Journal of human genetics 2016 Oct . Maia Nuno, Loureiro Joana R, Oliveira Bárbara, Marques Isabel, Santos Rosário, Jorge Paula, Martins Sand |
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[SNP array and cytogenetic analysis of a patient with unexplained mental retardation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Jun 33 (3): 332-4. Bai Nan, Mei Shiyue, Zhao Zhenhua, Kong Xiangdo |
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?-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.
Scientific reports 2016 6 29366. Kraan C M, Cornish K M, Bui Q M, Li X, Slater H R, Godler D |
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The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Scientific reports 2016 6 19372. Wenger Tara L, Kao Charlly, McDonald-McGinn Donna M, Zackai Elaine H, Bailey Alice, Schultz Robert T, Morrow Bernice E, Emanuel Beverly S, Hakonarson Hak |
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Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.
Genetics research international 2016 2016 8319287. Limprasert Pornprot, Thanakitgosate Janpen, Jaruthamsophon Kanoot, Sripo Than |
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Low Levels of HDL in Fragile X Syndrome Patients.
Lipids 2015 Dec . Lisik Ma?gorzata Z, Gutmajster Ewa, Siero? Aleksander |
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Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
EMBO molecular medicine 2015 Nov . Stepniak Beata, Kästner Anne, Poggi Giulia, Mitjans Marina, Begemann Martin, Hartmann Annette, Van der Auwera Sandra, Sananbenesi Farahnaz, Krueger-Burg Dilja, Matuszko Gabriela, Brosi Cornelia, Homuth Georg, Völzke Henry, Benseler Fritz, Bagni Claudia, Fischer Utz, Dityatev Alexander, Grabe Hans-Jörgen, Rujescu Dan, Fischer Andre, Ehrenreich Hannelo |
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Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.
Neuro-degenerative diseases 2015 Nov . Alvarez-Mora Maria Isabel, Rodriguez-Revenga Laia, Feliu Aina, Badenas Celia, Madrigal Irene, Milà Montserr |
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DXS998-DXS548-FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population.
Gene 2015 Oct 570 (2): 180-4. Shirani Mahsa, Vallian Sad |
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Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.
Intractable & rare diseases research 2015 Aug 4 (3): 123-30. Cordeiro Lisa, Abucayan Floridette, Hagerman Randi, Tassone Flora, Hessl Dav |
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A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Jul . Lorefice L, Tranquilli S, Fenu G, Murru M R, Frau J, Rolesu M, Coghe G C, Marrosu F, Marrosu M G, Cocco |
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Protein expression of targets of the FMRP regulon is altered in brains of subjects with schizophrenia and mood disorders.
Schizophrenia research 2015 Jul 165 (2-3): 201-11. Folsom Timothy D, Thuras Paul D, Fatemi S Hosse |
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Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.
Molecular genetics & genomic medicine 2015 May 3 (3): 172-81. Huang Wen, Xia Qiuping, Luo Shiyu, He Hua, Zhu Ting, Du Qian, Duan Ranh |
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Cerebellum (London, England) 2015 Mar . O'Keefe Joan A, Robertson-Dick Erin, Dunn Emily J, Li Yan, Deng Youping, Fiutko Amber N, Berry-Kravis Elizabeth, Hall Deborah |
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FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2015 Mar 31 (3): 191-5. Tural Sengul, Tekcan Ak?n, Kara Nurten, Elbistan Mehmet, Güven Davut, Ali Tasdemir Hayd |
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[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 11-5. Tang Lifang, Xiao Bing, Xu Yan, Ji Xing, Jiang Wenting, Liu Xiaoqing, Tao Jio |
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Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2014 Dec 165B (8): 705-11. Mailick Marsha R, Hong Jinkuk, Greenberg Jan, Smith Leann, Sherman Stephan |
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Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.
Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 940-4. Weiss Karin, Orr-Urtreger Avi, Kaplan Ber Idit, Naiman Tova, Shomrat Ruth, Bardugu Eyal, Yaron Yuval, Ben-Shachar Sh |
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AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
Journal of assisted reproduction and genetics 2014 Oct 31 (10): 1295-301. Pastore Lisa M, McMurry Timothy L, Williams Christopher D, Baker Valerie L, Young Steven |
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Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.
Neurobiology of aging 2014 Aug 35 (8): 1939-46. Hippolyte Loyse, Battistella Giovanni, Perrin Aline G, Fornari Eleonora, Cornish Kim M, Beckmann Jacques S, Niederhauser Julien, Vingerhoets François J G, Draganski Bogdan, Maeder Philippe, Jacquemont Sébasti |
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Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
American journal of medical genetics. Part A 2014 Jul 164A (7): 1648-58. Hunter Jessica, Rivero-Arias Oliver, Angelov Angel, Kim Edward, Fotheringham Iain, Leal Jo |
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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
American journal of human genetics 2014 May 94 (5): 677-94. Pinto Dalila, Delaby Elsa, Merico Daniele, Barbosa Mafalda, Merikangas Alison, Klei Lambertus, Thiruvahindrapuram Bhooma, Xu Xiao, Ziman Robert, Wang Zhuozhi, Vorstman Jacob A S, Thompson Ann, Regan Regina, Pilorge Marion, Pellecchia Giovanna, Pagnamenta Alistair T, Oliveira Bárbara, Marshall Christian R, Magalhaes Tiago R, Lowe Jennifer K, Howe Jennifer L, Griswold Anthony J, Gilbert John, Duketis Eftichia, Dombroski Beth A, De Jonge Maretha V, Cuccaro Michael, Crawford Emily L, Correia Catarina T, Conroy Judith, Conceição Inês C, Chiocchetti Andreas G, Casey Jillian P, Cai Guiqing, Cabrol Christelle, Bolshakova Nadia, Bacchelli Elena, Anney Richard, Gallinger Steven, Cotterchio Michelle, Casey Graham, Zwaigenbaum Lonnie, Wittemeyer Kerstin, Wing Kirsty, Wallace Simon, van Engeland Herman, Tryfon Ana, Thomson Susanne, Soorya Latha, Rogé Bernadette, Roberts Wendy, Poustka Fritz, Mouga Susana, Minshew Nancy, McInnes L Alison, McGrew Susan G, Lord Catherine, Leboyer Marion, Le Couteur Ann S, Kolevzon Alexander, Jiménez González Patricia, Jacob Suma, Holt Richard, Guter Stephen, Green Jonathan, Green Andrew, Gillberg Christopher, Fernandez Bridget A, Duque Frederico, Delorme Richard, Dawson Geraldine, Chaste Pauline, Café Cátia, Brennan Sean, Bourgeron Thomas, Bolton Patrick F, Bölte Sven, Bernier Raphael, Baird Gillian, Bailey Anthony J, Anagnostou Evdokia, Almeida Joana, Wijsman Ellen M, Vieland Veronica J, Vicente Astrid M, Schellenberg Gerard D, Pericak-Vance Margaret, Paterson Andrew D, Parr Jeremy R, Oliveira Guiomar, Nurnberger John I, Monaco Anthony P, Maestrini Elena, Klauck Sabine M, Hakonarson Hakon, Haines Jonathan L, Geschwind Daniel H, Freitag Christine M, Folstein Susan E, Ennis Sean, Coon Hilary, Battaglia Agatino, Szatmari Peter, Sutcliffe James S, Hallmayer Joachim, Gill Michael, Cook Edwin H, Buxbaum Joseph D, Devlin Bernie, Gallagher Louise, Betancur Catalina, Scherer Stephen |
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.
American journal of medical genetics. Part A 2014 May 164A (5): 1151-61. Fatima Tasneem, Zaidi Syed Aley Hasan, Sarfraz Noorjehan, Perween Siddiqa, Khurshid Faraz, Imtiaz Fauz |
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Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.
Clinical genetics 2014 May 85 (5): 441-5. Jang J-H, Lee K, Cho E-H, Lee E-H, Kim J-W, Ki C |
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Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.
Neurobiology of aging 2014 May 35 (5): 1189-97. Pretto Dalyir I, Kumar Madhur, Cao Zhengyu, Cunningham Christopher L, Durbin-Johnson Blythe, Qi Lihong, Berman Robert, Noctor Stephen C, Hagerman Randi J, Pessah Isaac N, Tassone Flo |
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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Journal of neurodevelopmental disorders 2014 6 (1): 24. Yrigollen Carolyn M, Martorell Loreto, Durbin-Johnson Blythe, Naudo Montserrat, Genoves Jordi, Murgia Alessandra, Polli Roberta, Zhou Lili, Barbouth Deborah, Rupchock Abigail, Finucane Brenda, Latham Gary J, Hadd Andrew, Berry-Kravis Elizabeth, Tassone Flo |
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FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
Genetics research 2014 96 e11. Laitman Yael, Ries-Levavi Liat, Berkensdadt Michal, Korach Jacob, Perri Tamar, Pras Elon, Friedman Eit |
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Low-normal FMR1 CGG repeat length: phenotypic associations.
Frontiers in genetics 2014 5 309. Mailick Marsha R, Hong Jinkuk, Rathouz Paul, Baker Mei W, Greenberg Jan S, Smith Leann, Maenner Matth |
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Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome.
Journal of neurodevelopmental disorders 2014 6 (1): 6. Wassink Thomas H, Hazlett Heather C, Davis Lea K, Reiss Allan L, Piven Jose |
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Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.
Journal of psychiatric research 2013 Dec 47 (12): 1909-16. Kim So-Yeon, Hashimoto Ryu-ichiro, Tassone Flora, Simon Tony J, Rivera Susan |
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Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.
JAMA neurology 2013 Aug 70 (8): 1022-9. Wang Jun Yi, Hessl David, Schneider Andrea, Tassone Flora, Hagerman Randi J, Rivera Susan |
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High apolipoprotein E4 allele frequency in FXTAS patients.
Genetics in medicine : official journal of the American College of Medical Genetics 2013 Aug 15 (8): 639-42. Silva Francisca, Rodriguez-Revenga Laia, Madrigal Irene, Alvarez-Mora Maria Isabel, Oliva Rafael, Milà Montserr |
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
American journal of medical genetics. Part A 2013 Apr 161A (4): 771-8. Nolin Sarah L, Sah Sachin, Glicksman Anne, Sherman Stephanie L, Allen Emily, Berry-Kravis Elizabeth, Tassone Flora, Yrigollen Carolyn, Cronister Amy, Jodah Marcia, Ersalesi Nicole, Dobkin Carl, Brown W Ted, Shroff Raghav, Latham Gary J, Hadd Andrew |
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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.
Genetics in medicine : official journal of the American College of Medical Genetics 2013 Apr 15 (4): 290-8. 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 |
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Fragile X carrier screening in Korean women of reproductive age.
Journal of medical screening 2013 Mar 20 (1): 15-20. Kim Mi Jin, Kim Do Jin, Kim Shin Young, Yang Jae Hyug, Kim Min Hyoung, Lee Si Won, Jeong Sin Ok, Park So Yeon, Ryu Hyun M |
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Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.
Journal of neurophysiology 2012 Dec . Conde V, Palomar FJ, Lama MJ, Martínez R, Carrillo F, Pintado E, Mir P |
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FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
Genome medicine 2012 Dec 4 (12): 12. Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ |
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Newborn screening and cascade testing for FMR1 mutations.
American journal of medical genetics. Part A 2012 Dec . Sorensen PL, Gane LW, Yarborough M, Hagerman RJ, Tassone F |
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Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.
Clinical rheumatology 2012 Nov 31 (11): 1611-5. Martorell Loreto, Tondo Mireia, Garcia-Fructuoso Ferrán, Naudo Montserrat, Alegre Cayetano, Gamez Josep, Genovés Jordi, Poo Pil |
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FXTAS: New insights and the need for revised diagnostic criteria.
Neurology 2012 Oct . Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Tran Thanh H, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M |
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Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus.
Human reproduction (Oxford, England) 2012 Jul 27 (7): 2224-32. Kline J, Kinney A, Brown S, Levin B, Oppenheimer K, Warburton |
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Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.
Neuropsychology 2012 Mar 26 (2): 156-64. Hunter Jessica Ezzell, Sherman Stephanie, Grigsby Jim, Kogan Cary, Cornish K |
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Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.
Annals of human genetics 2012 Mar 76 (2): 110-20. Barasoain Maitane, Barrenetxea Gorka, Ortiz-Lastra Eduardo, González Javier, Huerta Iratxe, Télez Mercedes, Ramírez Juan Manuel, Domínguez Amaia, Gurtubay Paula, Criado Begoña, Arrieta Isab |
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Intermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response.
Human reproduction (Oxford, England) 2012 Feb 27 (2): 609-14. Lledo B, Guerrero J, Ortiz J A, Morales R, Ten J, Llacer J, Gimenez J, Bernabeu |
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Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.
Journal of neuroinflammation 2012 9 (1): 238. Marek Diana, Papin Stephanie, Ellefsen Kim, Niederhauser Julien, Isidor Nathalie, Ransijn Adriana, Poupon Lucienne, Spertini Francois, Pantaleo Giuseppe, Bergmann Sven, Beckmann Jacques S, Jacquemont Sebastien, Tanackovic Goran |
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Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?
Epilepsy & behavior : E&B 2011 Nov 22 (3): 581-3. Tondo Mireia, Poo Pilar, Naudó Montserrat, Ferrando Teresa, Genovés Jordi, Molero Marta, Martorell Lore |
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Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
Prenatal diagnosis 2011 Oct 31 (10): 925-31. Nolin Sarah L, Glicksman Anne, Ding Xiaohua, Ersalesi Nicole, Brown W Ted, Sherman Stephanie L, Dobkin Ca |
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Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.
Human reproduction (Oxford, England) 2011 Aug 26 (8): 2077-83. Karimov C B, Moragianni V A, Cronister A, Srouji S, Petrozza J, Racowsky C, Ginsburg E, Thornton K L, Welt C |
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Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
European journal of human genetics : EJHG 2011 Aug 19 (8): 921-3. Madrigal Irene, Xunclà Mar, Tejada Maria Isabel, Martínez Francisco, Fernández-Carvajal Isabel, Pérez-Jurado Luís Alberto, Rodriguez-Revenga Laia, Milà Montserr |
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Predictors and risk model development for menopausal age in fragile X premutation carriers.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Jul 13 (7): 643-50. Spath Marian A, Feuth Ton B, Smits Arie P T, Yntema Helger G, Braat Didi D M, Thomas Chris M G, van Kessel Ad Geurts, Sherman Stephanie L, Allen Emily |
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Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.
Parkinsonism & related disorders 2011 May 17 (4): 281-4. Costa Alzenira, Gao Lin, Carrillo Fátima, Cáceres-Redondo María Teresa, Carballo Manuel, Díaz-Martín Juan, Gómez-Garre Pilar, Sobrino Francisco, Lucas Miguel, López-Barneo José, Mir Pablo, Pintado Elizabe |
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Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.
Neuropsychology 2011 May 25 (3): 404-11. Allen Emily Graves, Hunter Jessica E, Rusin Michele, Juncos Jorge, Novak Gloria, Hamilton Debra, Shubeck Lisa, Charen Krista, Sherman Stephanie |
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Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
Genetic testing and molecular biomarkers 2011 Apr 15 (4): 281-4. Katikala Lavanya, Guruju Mallikarjuna R, Madireddi Sujatha, Vallamkonda Omsairamesh, Vallamkonda Nagaratna, Persha Amarjyothi, Spurgeon Anandaraj M P |
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Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.
Brain and cognition 2011 Apr 75 (3): 255-60. Goodrich-Hunsaker Naomi J, Wong Ling M, McLennan Yingratana, Srivastava Siddharth, Tassone Flora, Harvey Danielle, Rivera Susan M, Simon Tony |
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Large-scale population screening for spinal muscular atrophy: clinical implications.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Feb 13 (2): 110-4. Ben-Shachar Shay, Orr-Urtreger Avi, Bardugo Eyal, Shomrat Ruth, Yaron Yuv |
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An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
Journal of psychiatric research 2011 Jan 45 (1): 36-43. Hashimoto Ryu-ichiro, Backer Kristina C, Tassone Flora, Hagerman Randi J, Rivera Susan |
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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Jan 13 (1): 39-45. Hantash Feras M, Goos Dana M, Crossley Beryl, Anderson Ben, Zhang Ke, Sun Weimin, Strom Charles |
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FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
Behavioral and brain functions : BBF 2011 7 (1): 19. Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isab |
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An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.
The Journal of molecular diagnostics : JMD 2010 Sep 12 (5): 589-600. Chen Liangjing, Hadd Andrew, Sah Sachin, Filipovic-Sadic Stela, Krosting Julie, Sekinger Edward, Pan Ruiqin, Hagerman Paul J, Stenzel Timothy T, Tassone Flora, Latham Gary |
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A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.
The Journal of molecular diagnostics : JMD 2010 Jul 12 (4): 505-11. Lyon Elaine, Laver Thomas, Yu Ping, Jama Mohamed, Young Keith, Zoccoli Michael, Marlowe Natal |
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Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.
Annals of human genetics 2010 Jul 74 (4): 316-25. Peprah Emmanuel K, Allen Emily G, Williams Scott M, Woodard Laresa M, Sherman Stephanie |
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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Genetics in medicine : official journal of the American College of Medical Genetics 2010 Mar 12 (3): 162-73. Hantash Feras M, Goos Dana G, Tsao David, Quan Franklin, Buller-Burckle Arlene, Peng Mei, Jarvis Michael, Sun Weimin, Strom Charles |
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Fragile X carrier screening and FMR1 allele distribution in the Japanese population.
Brain & development 2010 Feb 32 (2): 110-4. Otsuka Susumu, Sakamoto Yumiko, Siomi Haruhiko, Itakura Mituo, Yamamoto Kenji, Matumoto Hideo, Sasaki Tsukasa, Kato Nobumasa, Nanba Ei |
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High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique.
Genetic testing and molecular biomarkers 2009 Dec 13 (6): 855-9. Yuhas Jennifer, Walichiewicz Paulina, Pan Ruiqin, Zhang Wenting, Casillas E Melina, Hagerman Randi J, Tassone Flo |
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Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.
Clinical genetics 2009 Dec 76 (6): 511-23. Lévesque S, Dombrowski C, Morel M-L, Rehel R, Côté J-S, Bussières J, Morgan K, Rousseau |
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Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.
The Journal of molecular diagnostics : JMD 2009 Jul 11 (4): 324-9. Fernandez-Carvajal Isabel, Walichiewicz Paulina, Xiaosen Xie, Pan Ruiqin, Hagerman Paul J, Tassone Flo |
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The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome.
Epilepsy research 2009 Jul 85 (1): 114-7. Louhivuori Verna, Arvio Maria, Soronen Pia, Oksanen Virpi, Paunio Tiina, Castrén Maija |
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The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation.
Journal of medical genetics 2009 Jun . Sevin M, Kutalik Z, Bergmann S, Vercelletto M, Renou P, Lamy E, Vingerhoets F, Di-Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann J, Damier P, Jacquemont S |
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Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
Parkinsonism & related disorders 2009 Feb 15 (2): 156-9. Hall Deborah A, Howard Katherine, Hagerman Randi, Leehey Maureen |
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Screening for the presence of FMR1 premutation alleles in women with parkinsonism.
Archives of neurology 2009 Feb 66 (2): 244-9. Cilia Roberto, Kraff Jeremy, Canesi Margherita, Pezzoli Gianni, Goldwurm Stefano, Amiri Khalid, Tang Hiu-Tung, Pan Ruiqin, Hagerman Paul J, Tassone Flo |
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No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
American journal of human genetics 2008 Dec 83 (6): 692-702. Hunter Jessica Ezzell, Allen Emily Graves, Abramowitz Ann, Rusin Michele, Leslie Mary, Novak Gloria, Hamilton Debra, Shubeck Lisa, Charen Krista, Sherman Stephanie |
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Haplotype and AGG interspersion analysis of FMR1 alleles in a Croatian population: no founder effect detected in patients with fragile X syndrome.
Human biology 2008 Oct 80 (5): 581-7. Doki? H, Barisi? I, Culi? V, Lozi? B, He?imovi? |
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Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 Sep 147B (6): 859-72. Kogan Cary S, Turk Jeremy, Hagerman Randi J, Cornish Kim |
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Haplotype analysis at the FRAXA locus in an Indian population.
American journal of medical genetics. Part A 2008 Aug 146A (15): 1980-5. Chakraborty S Saha, Mondal Bama Charan, Das S, Das K, Dasgupta U |
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Age-dependent cognitive changes in carriers of the fragile X syndrome.
Cortex; a journal devoted to the study of the nervous system and behavior 2008 Jun 44 (6): 628-36. Cornish Kim M, Li Lexin, Kogan Cary S, Jacquemont Sebastien, Turk Jeremy, Dalton Ann, Hagerman Randi J, Hagerman Paul |
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Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles.
Current genomics 2008 May 9 (3): 191-9. Arrieta M I, Ramírez J M, Télez M, Flores P, Criado B, Barasoain M, Huerta I, González A |
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Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.
Human reproduction (Oxford, England) 2008 May 23 (5): 1220-5. Rohr J, Allen E G, Charen K, Giles J, He W, Dominguez C, Sherman S |
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Abnormal nerve conduction features in fragile X premutation carriers.
Archives of neurology 2008 Apr 65 (4): 495-8. Soontarapornchai Kultida, Maselli Ricardo, Fenton-Farrell Grace, Tassone Flora, Hagerman Paul J, Hessl Davis, Hagerman Randi |
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Neurology 2008 Apr 70 (16 Pt 2): 1397-402. Leehey M A, Berry-Kravis E, Goetz C G, Zhang L, Hall D A, Li L, Rice C D, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman R J, Hagerman P |
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Screening for FXTAS in 95 Spanish patients negative for Huntington disease.
Genetic testing 2008 Mar 12 (1): 135-8. Rodriguez-Revenga Laia, Santos M Mònica, Sánchez Aurora, Pujol Montserrat, Gómez-Anson Beatriz, Badenas Celia, Jiménez Dolores, Madrigal Irene, Milà Montserr |
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Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder.
Journal of autism and developmental disorders 2008 Jan 38 (1): 184-9. Hessl David, Tassone Flora, Cordeiro Lisa, Koldewyn Kami, McCormick Carolyn, Green Cherie, Wegelin Jacob, Yuhas Jennifer, Hagerman Randi |
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An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).
Molecular cytogenetics 2008 1 (1): 5. Khaniani Mahmoud S, Kalitsis Paul, Burgess Trent, Slater Howard |
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Screen for excess FMR1 premutation alleles among males with parkinsonism.
Archives of neurology 2007 Jul 64 (7): 1002-6. Kraff Jeremy, Tang Hiu-Tung, Cilia Roberto, Canesi Margherita, Pezzoli Gianni, Goldwurm Stefano, Hagerman Paul J, Tassone Flo |
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FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.
Molecular neurobiology 2007 Jun 35 (3): 324-8. Rodriguez-Revenga Laia, Gómez-Anson Beatriz, Muñoz Esteban, Jiménez Dolores, Santos Monica, Tintoré Mar, Martín Gisela, Brieva Luis, Milà Montserr |
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HOXA1 gene variants influence head growth rates in humans.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Apr 144B (3): 388-90. Muscarella Lucia Anna, Guarnieri Vito, Sacco Roberto, Militerni Roberto, Bravaccio Carmela, Trillo Simona, Schneider Cindy, Melmed Raun, Elia Maurizio, Mascia Maria Lucia, Rucci Emanuela, Piemontese Maria Rosaria, D'Agruma Leonardo, Persico Antonio |
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[Polymorphism of CGG repeats in the FRAXE fragile site in the Qinba Mountain area children and its association with intelligence].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2006 Oct 28 (10): 1219-23. Niu Yin-Bo, Nan Ya-Ping, Shu Qing, Zhang Ke-Jin, Gao Xiao-Cai, Zhang Fu-Cha |
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Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?
Annals of human genetics 2006 Sep 70 (Pt 5): 555-65. Loat C S, Craig G, Plomin R, Craig I |
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Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.
Menopause (New York, N.Y.) 0 15 (5): 945-9. Tejada Maria-Isabel, García-Alegría Eva, Bilbao Amaia, Martínez-Bouzas Cristina, Beristain Elena, Poch Marisa, Ramos-Arroyo Maria A, López Blanca, Fernandez Carvajal Isabel, Ribate Maria-Pilar, Ramos Felicia |
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Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
European journal of medical genetics 0 50 (3): 200-8. Lesca Gaëtan, Bernard Virginie, Bozon Muriel, Touraine Renaud, Gérard Daniel, Edery Patrick, Calender Ala |
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Mutations in GDI1 and X-linked non-specific mental retardation.
Annali di igiene : medicina preventiva e di comunità 0 23 (1): 71-9. Dell'Amico M C, Vivani P, Miccoli M, Cecconi M, Baggiani |
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