Genética, Fisiología y Microbiología
Department
Julián
Nevado Blanco
Publications by the researcher in collaboration with Julián Nevado Blanco (23)
2022
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics, Vol. 13
2021
2018
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CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889
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In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype
Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552
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mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review
Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775
2017
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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants
Clinical Genetics
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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
PLoS ONE, Vol. 12, Núm. 2
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39
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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways
Scientific Reports, Vol. 7
2016
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Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749
2015
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Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626
2014
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A new overgrowth syndrome is due to mutations in RNF125
Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441
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Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
BMC Medical Genetics, Vol. 15, Núm. 1
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New microdeletion and microduplication syndromes: A comprehensive review
Genetics and Molecular Biology, Vol. 37, Núm. 1 SUPPL. 1, pp. 210-219
2013
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A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability
Gene, Vol. 521, Núm. 1, pp. 82-86
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Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples
American Journal of Medical Genetics, Part A, Vol. 161, Núm. 8, pp. 1950-1960
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PLP1 gene analysis in 88 patients with leukodystrophy
Clinical Genetics, Vol. 84, Núm. 6, pp. 566-571
2012
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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes
American Journal of Medical Genetics, Part A, Vol. 158 A, Núm. 11, pp. 2963-2968
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Prenatal diagnosis and comparative genomic hybridization (CGH) -array (I). High risk pregnancies
Diagnostico Prenatal