Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Counseling and FMR1[original query] |
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| Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. American journal of human genetics 2001 Aug 69 (2): 351-60. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern G J, Ginott N, Shohat |
| Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. American journal of human genetics 2003 Feb 72 (2): 454-64. Nolin Sarah L, Brown W Ted, Glicksman Anne, Houck 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure. Annales d'endocrinologie 2015 Nov . Bouali Nouha, Hmida Dorra, Mougou Soumaya, Bouligand Jérôme, Lakhal Besma, Dimessi Sarra, Francou Bruno, Saad Ghada, Trabelsi Saoussen, Zaouali Monia, Gribaa Moez, Chaieb Molka, Bibi Mouhamed, Guiochon-Mantel Anne, Saad A |
| Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency. The Journal of clinical endocrinology and metabolism 2016 Mar jc20161291. Hyon C, Mansour-Hendili L, Chantot-Bastaraud S, Donadille B, Kerlan V, Dodé C, Jonard S, Delemer B, Gompel A, Reznik Y, Touraine P, Siffroi Jp, Christin-Maitre |
| 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 |
| [Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 4 36 (4): 340-343. Jiang Chen, Pan Nan, Lyu Weigang, Peng Ying, Liu Jing, Guo Ruolan, Chang Jiazhen, Liang Desheng, Wu Lingqi |
| What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome? Human reproduction (Oxford, England) 2021 9 36 (11): 3003-3013. Sonigo C, Mayeur A, Sadoun M, Pinto M, Benguigui J, Frydman N, Monnot S, Benachi A, Steffann J, Grynberg |
| [Significance and case analysis of FMR1 mutation screening during early and middle pregnancy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 May 38 (5): 450-453. Cao Qinying, Mu Weihong, Sun Donglan, Zhu Junzhen, Ge Jun, Peng Yuanyuan, Zhang Ji |
| Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
| Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency. Journal of assisted reproduction and genetics 2022 1 39 (3): 695-710. Turkyilmaz Ayberk, Alavanda Ceren, Ates Esra Arslan, Geckinli Bilgen Bilge, Polat Hamza, Gokcu Mehmet, Karakaya Taner, Cebi Alper Han, Soylemez Mehmet Ali, Guney Ahmet ?lter, Ata Pinar, Arman Ahm |
| Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families. Fertility and sterility 2022 Jan . Rouen Alexandre, Rogers Eli, Kerlan Véronique, Delemer Brigitte, Catteau-Jonard Sophie, Reznik Yves, Gompel Anne, Cedrin Isabelle, Guedj Anne-Marie, Grouthier Virginie, Brue Thierry, Pienkowski Catherine, Bachelot Anne, Chantot-Bastaraud Sandra, Rousseau Alexandra, Simon Tabassome, Kott Esther, Siffroi Jean-Pierre, Touraine Philippe, Christin-Maitre Soph |
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