Search Results - "RINALDI, Maria Michela"
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
Published in European journal of human genetics : EJHG (01-05-2009)“…Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical…”
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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour
Published in Human molecular genetics (15-05-2008)“…The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive…”
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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
Published in American journal of medical genetics. Part A (15-09-2006)“…Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q…”
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Expansion to full mutation of a FMR1 intermediate allele over two generations
Published in European journal of human genetics : EJHG (01-04-2004)“…Fragile X syndrome is due to an expanded CGG repeat in the 5' UTR of the FMR1 gene. According to repeat size, we distinguish four allele categories: normal…”
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Pharmacological inhibition of N-Acylethanolamine acid amidase (NAAA) mitigates intestinal fibrosis through modulation of macrophage activity
Published in Journal of Crohn's and colitis (30-08-2024)“…Intestinal fibrosis, a frequent complication of inflammatory bowel disease, is characterized by stricture formation with no pharmacological treatment to date…”
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The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Published in Journal of human genetics (01-02-1998)Get full text
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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
Published in European journal of human genetics : EJHG (01-01-2004)“…Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to…”
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A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)
Published in FEBS letters (04-08-2000)“…Aarskog–Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities. A gene, FGD1, altered…”
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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
Published in Clinical genetics (01-10-1998)“…Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported…”
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Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
Published in American journal of medical genetics. Part A (30-04-2003)“…X‐linked nonspecific mental retardation (MRX) accounts for ∼25% of mental retardation in males. A number of MRX loci have been mapped on the X chromosome,…”
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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
Published in Journal of pediatric ophthalmology and strabismus (01-09-2002)“…We studied an Italian family affected by the autosomal dominant form of microcephaly and chorioretinal degeneration that was characterized by various degrees…”
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Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings
Published in Pediatric nephrology (Berlin, West) (01-02-1995)“…The association of a spondyloepiphyseal dysplasia tarda (SED-T) with the nephrotic syndrome (NS) was found in three siblings. They have counsaguineous (first…”
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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)
Published in American journal of medical genetics (01-12-1983)“…A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae,…”
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