about
X-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?New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.Dosage-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.A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR.High apolipoprotein E4 allele frequency in FXTAS patients.MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.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.Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.Evidence of depressive symptoms in fragile-X syndrome premutated females.Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.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.Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements.A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.Deletion of the OPHN1 gene detected by aCGH.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor.Paternal transmission of a FMR1 full mutation allele.A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.Reply to He et al.Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemiaSubtelomeric MLPA: is it really useful in prenatal diagnosis?Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocationDuplication/deletion mosaicism of the 7q(21.1 → 31.3) regionTrisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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I Madrigal
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P106
P1153
8525645800
P31
P496
0000-0002-7229-1199