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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene,Expand
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Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.
Distinct forms of tyrosine kinase domain (TKD), juxtamembrane domain, exon 8, and internal tandem duplication (ITD) mutations of c-KIT, were observed in about 46% of core binding factor leukemiaExpand
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, andExpand
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Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/orExpand
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C-kit mutations in core binding factor leukemias.
To the editor: C-kit mutations in core binding factor leukemias Positivity for CD117(c-kit) expression is present in 80% of acute myeloblastic leukemia (AML) cases,[1][1] and has been associatedExpand
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KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication.
BACKGROUND AND OBJECTIVES Mutations of KIT receptor tyrosine kinase are involved in the constitutive activation and development of human hematologic malignancies. Gain-of-function mutations in theExpand
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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
Background: Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13qExpand
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Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
Neurofibromatosis type 1 ( NF1 [MIM 162200]) is a common autosomal dominant disorder that affects 1/3500 individuals and is caused by deletion or point mutations of NF1 , a tumour suppressor geneExpand
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected toExpand
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Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian familyExpand
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