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New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(Pergamon-Elsevier B.V. Ltd, 2009-01-01)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...
New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(Pergamon-Elsevier B.V. Ltd, 2009-01-01)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
(Human Genetics, 2017-10-01)
Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(Elsevier B.V., 2009-09-01)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
Simple fluorescent PCR method for detection of large deletions in the beta-globin gene cluster
(Wiley-lissNew YorkEUA, 2003)
Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
(Sociedade Brasileira de Genética, 2004)