about
Connexin-26 mutations in sporadic and inherited sensorineural deafnessX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Associated features in females with an FMR1 premutationPenetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertensionDosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.Fragile X syndrome: an overview and update of the FMR1 gene.Role of the CDKN2A locus in patients with multiple primary melanomas.A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.Isolation and characterisation of a CDw50 negative Jurkat T-cell line variant (PPL.1).Common genetic background in anorexia nervosa and obsessive compulsive disorder: preliminary results from an association study.Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.High apolipoprotein E4 allele frequency in FXTAS patients.Tetrahydrobiopterin responsiveness in patients with phenylketonuria.MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.[Recommendations of good practices for molecular diagnosis of Huntington disease].Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.Brain-derived neurotrophic factor modulates the severity of cognitive alterations induced by mutant huntingtin: involvement of phospholipaseCgamma activity and glutamate receptor expression.Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.FMR1 Premutation: Basic Mechanisms and Clinical Involvement.Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Incidence of fragile X in 5,000 consecutive newborn males.Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease.Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.Evidence of depressive symptoms in fragile-X syndrome premutated females.Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.Motor and mental dysfunction in mother-daughter transmitted FXTAS.Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
P50
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hulumtuese
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հետազոտող
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M Milà
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M Milà
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M Milà
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M Milà
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M Milà
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M Milà
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Montserrat Milà
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M Milà
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M Milà
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