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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
TLDR
It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
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Rothmund-Thomson syndrome
TLDR
The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes, and the differential diagnosis should include other causes of childhood poikiloderma, other rare genodermatoses with prominent telangiectasias, which also share some clinical features.
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Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.
TLDR
Findings indicate that c-KIT TKD(816) mutation has a negative impact on the outcome of AML with t(8;21), which is associated with a high white blood cell count at diagnosis and a higher incidence of extramedullary leukemia during the course of the disease.
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
TLDR
The hypotheses that trans-acting factors affect the somatic maintenance of imprinting at multiple maternally methylated loci are supported and that the clinical presentation of these complex cases may reflect the loci and tissues affected with the epigenetic abnormalities.
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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
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C-kit mutations in core binding factor leukemias.
TLDR
Positivity for CD117(c-kit) expression is present in 80% of acute myeloblastic leukemia (AML) cases and has been associated with the expression of CD33, a marker of myeloid precursors, and CD13, a myeloids-associated antigen.
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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
TLDR
This first systematic molecular characterisation of de novo 13q deletions offers a karyotype–phenotype correlation based on detailed clinical studies and molecular determinations of the deleted regions, and confirms that patients lacking the 13q32 band are the most seriously affected.
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KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication.
TLDR
The results underline that the KIT gene is activated in AML characterized by distinct cytogenetic and molecular genetic patterns and represents the most frequently mutated target in adult CBFL.
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Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
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