HuGE Literature Finder
Rare Disease
Records
1
-
30
Glucocorticoid regulation and neuroanatomy in fragile x syndrome. Journal of psychiatric research 2020 Dec 134 81-88. Bruno Jennifer L, Hong David S, Lightbody Amy A, Hosseini S M Hadi, Hallmayer Joachim, Reiss Allan |
Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing? Journal of assisted reproduction and genetics 2020 Jun . Ranisavljevic Noemie, Hess Mathilde, Castelli Christel, Willems Marjolene, Ferrieres-Hoa Alice, Girardet Anne, Anahory T |
Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain and cognition 2019 Dec 139 105511. Klusek Jessica, Hong Jinkuk, Sterling Audra, Berry-Kravis Elizabeth, Mailick Marsha |
Cyfip1 Haploinsufficiency Does Not Alter GABA Receptor d-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV Interneurons and Granule Cells. eNeuro 2019 Jun . Trent Simon, Hall Jeremy, Connelly William M, Errington Adam |
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 |
Dysregulated Ca-Permeable AMPA Receptor Signaling in Neural Progenitors Modeling Fragile X Syndrome. Frontiers in synaptic neuroscience 2019 11 2. Danesi Claudia, Keinänen Kari, Castrén Maija |
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 |
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 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
Low Levels of HDL in Fragile X Syndrome Patients. Lipids 2015 Dec . Lisik Ma?gorzata Z, Gutmajster Ewa, Siero? Aleksander |
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 |
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 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
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 |
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 |
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 |
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 |
- Page last reviewed:Jul 25, 2022
- Page last updated:Jan 26, 2023
- Content source: