Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Abnormalities and FMR1[original query] |
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FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation. Genetic testing 2000 4 (3): 283-7. Mulatinho M V, Llerena J C, Pimentel M |
A pilot study of premature ovarian senescence: II. Different genotype and phenotype for genetic and autoimmune etiologies. Fertility and sterility 2009 May 91 (5): 1707-11. Gleicher Norbert, Weghofer Andrea, Barad David |
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 |
Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors. Reproductive biomedicine online 2010 Apr 20 (4): 485-91. Gleicher Norbert, Weghofer Andrea, Barad David |
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 |
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 |
Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clinical genetics 2013 Feb . Au J, Scott Akins R, Berkowitz-Sutherland L, Tang HT, Chen Y, Boyd A, Tassone F, Nguyen DV, Hagerman R |
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 |
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations. BMC medical genetics 2018 7 19 (1): 113. Beke Artur, Piko Henriett, Haltrich Iren, Karcagi Veronika, Rigo Janos, Molnar Maria Judit, Fekete Györ |
Eye Movements in Fragile X-Associated Tremor/Ataxia Syndrome. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 Oct . Hall Deborah A, Leehey Maureen A, Hagerman Randi J, Pelak Victoria |
Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum (London, England) 2021 5 21 (1): 86-98. Abbasi Diana A, Nguyen Thu T A, Hall Deborah A, Robertson-Dick Erin, Berry-Kravis Elizabeth, Cologna Stephanie |
Maternal germline factors associated with aneuploid pregnancy loss: a systematic review. Human reproduction update 2021 . Blyth Ursula, Craciunas Laurentiu, Hudson Gavin, Choudhary Meenaks |
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities. European journal of medical genetics 2022 1 65 (3): 104441. Mangano Giuseppe Donato, Fontana Antonina, Salpietro Vincenzo, Antona Vincenzo, Mangano Giuseppa Renata, Nardello Rosar |
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- Page last updated:Apr 22, 2024
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