9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial...

syndrome 3q29 microdeletion syndrome 49,XXXXY 4D syndrome 8p23.1 duplication syndrome 9q34 deletion syndrome Aagenaes syndrome Aarskog–Scott syndrome...

telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood...

7-dehydrocholesterol reductase deficiency 8p23.1 duplication syndrome 9q34 deletion syndrome "Archived copy". Archived from the original on 2010-04-09....

Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...

(December 1994). "Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome". Nature Genetics...

associated with Leigh syndrome. These mutations, which comprise at least 10 missense or nonsense, 8 splice site, and 12 insertion or deletion mutations, are...

euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome". American Journal of Human Genetics. 79 (2): 370–7. doi:10...

White I, Lendahl U (1994). "The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated...

For example, dystonia musculorum deformans (Oppenheim, Flatau-Sterling syndrome): Normal birth history and milestones Autosomal dominant Childhood onset...

of which may be lost together by a single deletional mutation thereby causing development of the 5q-syndrome. Other genetic abnormalities in PDGFRB lead...

respectively. The TSC1 gene is located on the long arm of chromosome 9 (9q34) and the TSC2 gene is located on the short arm of chromosome 16 (16p13)....

cell and B cell lymphocytes. The ABL1 gene is located on human chromosome 9q34.12; translocations between it and the BCR gene on human chromosome 22q11...

family have all been connected to over-expression, epigentic splicing, deletion, or mutations in various types of cancer. PRDM12 in particular has been...

chromosome 9q34 is also associated with the M2 subtype. The t(6;9) causes the formation of a fusion oncogene made of DEK (6p23) and CAN/NUP214 (9q34). This...

Ridder DA, Herschman HR, Schwaninger M, Blomqvist A, Engblom D (Aug 2014). "Deletion of prostaglandin E2 synthesizing enzymes in brain endothelial cells attenuates...

1997). "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34". Science. 277 (5327): 805–8. doi:10.1126/science.277.5327.805. PMID 9242607...

and circumvallate papillae. The results demonstrated that the genetic deletion of Entpd2 successfully eradicated the expression of NTPDase2 mRNA in taste...

with non-ADHD, replicated in a subsequent study of 2500 more patients. Deletions and duplications affected GRM1, GRM5, GRM7 and GRM8. The study concluded...

Mitelman F, Höglund M (June 1997). "Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p...

tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34". Genomics. 33 (3): 421–9. doi:10.1006/geno.1996.0217. PMID 8661001. Koshizuka T,...