29 results

... the only known cause of Sotos syndrome.[ 42 ] 9q22.3 microdeletion syndrome. This syndrome is characterized by ... most patients whose tumors have TRIM28 variants.[ 128 ] 9q22.3 microdeletion syndrome. Patients with 9q22.3 microdeletion ...

... most patients whose tumors have TRIM28 variants.[ 77 ] 9q22.3 microdeletion syndrome. Patients with 9q22.3 microdeletion syndrome have an increased risk of ...

... neoplastic transformation. Demonstration of allelic loss on chromosome 9q22 in both sporadic and familial BCCs suggested the ... BCNS pathogenic variant has been localized to chromosome 9q22.3-q31, with a maximum logarithm of the ...

... A non-recurrent contiguous gene deletion at chromosome 9q22.3 encompassing a 352-kb critical region including ... for Wilms tumor. The clinical spectrum of the 9q22.3 deletion is variable, and the clinical findings ...

... 50K SNV array United States 2009 [ 29 ] FOXE1 9q22.33 PTC/FTC 60 families 300K SNV array ... controls.[ 30 ] Two loci had high statistical significance, 9q22.33 and 14q13.3, which are near the ...

... Locus Protein Locus-Specific Databases HGMD ClinVar FBP1 9q22 ​.32 Fructose-1,6-bisphosphatase 1 FBP1 database ... FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects ...

... colorectal neoplasia was found to link to chromosome 9q22.2-31.2.[ 578 ] A more recent study ... of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2. Proc Natl Acad Sci U ...

... Wilms tumor. A non-recurrent deletion at chromosome 9q22.3 encompassing a 352-kb critical region including ... M, Heloury Y. Wilms tumor associated with the 9q22.3 microdeletion syndrome: 2 new case reports and ...