about
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeDonor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityExpression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissuesHDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplicationPrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesDeletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.16p subtelomeric duplication: a clinically recognizable syndrome.The future of prenatal diagnosis: karyotype, microarray or both? Technical and ethical considerations.Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.Human neural stem cell transplantation in ALS: initial results from a phase I trial.Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalanceDandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.FOXP1-related intellectual disability syndrome: a recognisable entity.Resistance to neoplastic transformation of ex-vivo expanded human mesenchymal stromal cells after exposure to supramaximal physical and chemical stress.Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.The clinical utility and indications of chromosomal microarray analysis in prenatal diagnosis.SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.Regulatory variants of FOXG1 in the context of its topological domain organisation.Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review.Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.Spectrum of epilepsy in terminal 1p36 deletion syndrome.Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.
P50
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P50
description
Forscher
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chercheur
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investigador
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onderzoeker
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researcher
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հետազոտող
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研究者
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name
Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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Antonio Novelli
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P106
P1153
7005749853
P21
P31
P496
0000-0002-9037-4297