Chromosome 9p

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Microsatellite alteration and immunohistochemical expression profile of chromosome 9p21 in patients with sporadic renal cell carcinoma following surgical resection

Long-term prognostic significance of loss of heterozygosity on chromosome 9p21 for localized renal cell carcinoma following surgery remains unreported. The study assessed the frequency of deletions of different loci of chromosome 9p along with immunohistochemical profile of proteins in surgically resected renal cancer tissue and correlated this with long-term outcomes.

10p vimale2711 25-08-2020 10 2 Download

Early-onset gonadoblastoma in a 13-month-old infant with 46, XY complete gonadal dysgenesis identified with prenatal testing: A case of chromosome 9P deletion

Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs).

4p caothientrangnguyen 09-05-2020 18 1 Download

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: A case report

Herein, we reported a postnatal case of a newborn who died in early infancy with multiple congenital malformations due to a mosaic de novo tetrasomy 9p detected by Chromosomal Microarray Analysis.

4p vidublin2711 13-01-2020 11 1 Download
JAK2 mutation

Đây là một thử nghiệm máu. Dùng trong việc định bệnh myeloproliferative neoplasm (MPN) (cũng gọi là myeloprolif. disorders) Năm 2005, các investigators tìm thấy V617F mutation ở pseudokinase domain của Janus kinase 2 gene (cho nên viết tắt JAK2). Gene này ở chromosome 9p (Lancet 2005; 365:1054-1061) (NewEnglJnlMed 2005;352:17791790) (Nature 2005;434:1144-1148) Lab sẽ báo cáo như sau : (1) negative for JAK2 mutation (2) Positive for JAK2 mutation (3) below the lab cut off for positivity....

6p sinhtobo111 13-04-2011 45 2 Download
Chapter 103. Polycythemia Vera and Other Myeloproliferative Diseases (Part 2)

The etiology of PV is unknown. Although nonrandom chromosome abnormalities such as 20q, trisomy 8, and especially 9p, have been documented in up to 30% of untreated PV patients, unlike CML no consistent cytogenetic abnormality has been associated with the disorder. However, a mutation in the autoinhibitory, pseudokinase domain of the tyrosine kinase JAK2—which replaces valine with phenylalanine (V617F), causing constitutive activation of the kinase— appears to have a central role in the pathogenesis of PV.

5p thanhongan 07-12-2010 69 3 Download