Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Syndrome and FRAXA[original query] |
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[Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain]. Anales españoles de pediatría 2001 Apr 54 (4): 331-9. Durán Domínguez M, Molina Carrillo M, Fernández Toral J, Martínez Merino T, López Arístegui MA, Alvarez Retuerto AI, Onaindía Urquijo ML, Tejada Mínguez MI |
Haplotype analysis at the FRAXA locus in Thai subjects. American journal of medical genetics 2001 Jan 98 (3): 224-9. Limprasert P, Saechan V, Ruangdaraganon N, Sura T, Vasiknanote P, Jaruratanasirikul S, Brown W |
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 |
[Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk]. Genetika 2002 Feb 38 (2): 268-73. Tolmacheva E N, Nazarenko S |
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? Psychiatric genetics 2001 Dec 11 (4): 201-5. Savi? D, Topisirovi? I, Keckarevi? M, Keckarevi? D, Major T, Culjkovi? B, Stojkovi? O, Rakocevi?-Stojanovi? V, Mladenovi? J, Todorovi? S, Apostolski S, Romac |
Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arquivos de neuro-psiquiatria 2003 Jun 61 (2A): 176-80. Steiner Carlos Eduardo, Guerreiro Marilisa Mantovani, Marques-de-Faria Antonia Pau |
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2003 7 (1): 3-7. Bourdon Violaine, Philippe Christophe, Martin Dominique, Verloès Alain, Grandemenge Agnès, Jonveaux Philip |
Genetic diversity at the FMR1 locus in Mexican population. Archives of medical research 0 36 (4): 412-7. Rosales-Reynoso Mónica Alejandra, Mendoza-Carrera Francisco, Troyo-Sanromán Rogelio, Medina Claudina, Barros-Núñez Patric |
Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-?i???yah li-sharq al-mutawassi? 0 10 (1-2): 116-24. Bastaki L A, Hegazy F, Al-Heneidi M M, Turki N, Azab A S, Naguib K |
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC medical genetics 2005 1 6 3. Reddy Kavita |
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Annals of human genetics 2006 Mar 70 (Pt 2): 170-80. Ennis S, Murray A, Youings S, Brightwell G, Herrick D, Ring S, Pembrey M, Morton N E, Jacobs P |
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 |
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 |
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? |
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 |
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 |
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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