Mechanisms underlying structural variant formation in genomic disorders
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …
implementation of genome-wide assays, our understanding of the molecular basis of …
Copy number variation in human health, disease, and evolution
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …
are being identified with various genome analysis platforms, including array comparative …
Mechanisms for human genomic rearrangements
Genomic rearrangements describe gross DNA changes of the size ranging from a couple of
hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 …
hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 …
Emerging genotype–phenotype relationships in patients with large NF1 deletions
H Kehrer-Sawatzki, VF Mautner, DN Cooper - Human Genetics, 2017 - Springer
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Abstract In 5‐10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions
that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent …
that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent …
Somatic gene mutation and human disease other than cancer: an update
RP Erickson - Mutation Research/Reviews in Mutation Research, 2010 - Elsevier
Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
VF Mautner, L Kluwe, RE Friedrich, AC Roehl… - Journal of medical …, 2010 - jmg.bmj.com
Background Large deletions of the NF1 gene region occur in∼ 5% of patients with
neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of …
neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of …
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
H Kehrer-Sawatzki, DN Cooper - Human genetics, 2021 - Springer
Abstract An estimated 5–11% of patients with neurofibromatosis type-1 (NF1) harbour large
deletions encompassing the NF1 gene and flanking regions. These NF1 microdeletions are …
deletions encompassing the NF1 gene and flanking regions. These NF1 microdeletions are …
Genomic rearrangements in inherited disease and cancer
Genomic rearrangements in inherited disease and cancer involve gross alterations of
chromosomes or large chromosomal regions and can take the form of deletions …
chromosomes or large chromosomal regions and can take the form of deletions …
[HTML][HTML] Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects
Somatic mosaicism has been implicated as a causative mechanism in a number of genetic
and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently …
and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently …