12P12

Haploinsufficiency of SOX5 at 12p12.1 is associated with ...

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic ...

12p12

12p12.1 microdeletion syndrome - Orphanet

12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized ...

12p12

ZFIN Gene: si:ch211-12p12.2

Nomenclature Note: This gene is derived from the zebrafish genome sequencing and annotation project. When more is known about the gene, the current ...

12p12

12p12

chr12:14600000-26300000 (11700 Kb). Chromosomal abnormalities in band 12p12; Genes in band 12p12 (reference hg38); External links; References ...

12p12

Nonrandom involvement of the 12p12 breakpoint in chromosome ...

1 Jul 1986 ... We studied the presenting clinical and biologic features of 23 children with acute lymphoblastic leukemia (ALL) whose leukemic marrow ...

12p12

BCAT1/RECQL (12p12)

BCAT1/RECQL (12p12), Authors: Jean-Loup Huret, Philippe Dessen. Published in: Atlas Genet Cytogenet Oncol Haematol.

12p12

Familial interstitial deletion 11(p11.12p12) associated with parietal ...

1 Mar 1993 ... Abstract Parietal foramina may be an isolated autosomal dominant trait or found in syndromes. We report on two related individuals who have ...

12p12

The human natural killer gene complex is located on chromosome ...

The human natural killer gene complex is located on chromosome 12p12-p13. Authors; Authors and affiliations. Mónica Renedo; Ignacio Arce; Antonio ...

12p12

A Meniere's disease gene linked to chromosome 12p12.3 - Klar ...

1 Jun 2006 ... Abstract Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural ...

12p12

Functional characterization of the 12p12. 1 renal cancer ...

7 Jul 2019 ... Here, we use regional imputation and bioinformatics analysis of the 12p12.1 locus to identify the single-nucleotide polymorphism (SNP) ...

12p12

PBac{CH321-12P12} - FlyBase Recombinant Construct Report

PBac{CH321-12P12}. FlyBase ID. FBtp0053257. Feature type. transgenic_transposon. Component Allele(s). Hnf4. Size. Expression Data. Associated insertion(s).

12p12

12p12.1

12p12

DmelHnf4[tCH321-12P12] - FlyBase Allele Report

DmelHnf4tCH321-12P12. Species. D. melanogaster. Name. FlyBase ID. FBal0243301. Feature type. allele. Associated gene. DmelHnf4. Associated Insertion(s).

12p12

Deletion 12p12 Involving SOX5 in Two Children With ...

28 Oct 2019 ... This article reports on two cases of 12p12.1 deletion involving SOX5 presenting with global developmental delay, intellectual disability, ...

12p12

LOSS OF HETEROZYGOSITY AT 12P12–13 IN PRIMARY AND ...

Purpose. Our laboratory has recently identified a 1 to 2 Mb homozygous deletion at 12p12–13 in a prostate cancer specimen and determined that the p27/kip1 ...

12p12

A Meniere's disease gene linked to chromosome 12p12.3. - Abstract ...

Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The majority of  ...

12p12

si:ch211-12p12.2 | Danio rerio gene | Alliance of Genome Resources

Species: Danio rerio; Symbol: si:ch211-12p12.2; Name: si:ch211-12p12.2; Synonyms: None; Biotype: protein coding gene; Automated Description: Predicted to ...

12p12

GWAS Catalog

G LINC02398. Description: long intergenic non-protein coding RNA 2398. Location: 12:20014780-20098868 Cytogenetic region: 12p12.2 Biotype: lncRNA.

12p12

Si:ch211-12p12.2

si:ch211-12p12.2. Organism. Danio rerio (Zebrafish) (Brachydanio rerio). Status. Unreviewed-Annotation score: Annotation score:1 out of 5. The annotation ...

12p12

Loss of heterozygosity of Kras2 gene on 12p12-13 in Chinese colon ...

21 Feb 2006 ... Loss of heterozygosity of Kras2 gene on 12p12-13 in Chinese colon ... Table 1 Primer sequences on 12p12-13 microsatellite markers ...

12p12

12p12.3

12p12

A Meniere's disease gene linked to chromosome 12p12.3.

20 Feb 2008 ... 2006 (English)In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 141B, no ...

12p12

Haploinsufficiency of SOX5 at 12p12.1 is associated with ...

1 Apr 2012 ... Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild ...

12p12

Deletion 12p12 involving SOX5 in two children with developmental ...

This article reports on two cases of 12p12.1 deletion involving SOX5 presenting with global developmental delay, intellectual disability, expressive language ...

12p12

12p12/CEN12q FISH Probe - (FG0131) - Products - Abnova

Labeled FISH probes for identification of gene amplification using Fluoresecent In Situ Hybridization Technique. (Technology) (FG0131) - Products - Abnova.

12p12

12p12-13 deletion in prostate tumors and quantitative expression of ...

Return to the list. 12p12-13 deletion in prostate tumors and quantitative expression of CDKN1B and ETV6 candidate genes. Latil A, Guérard M, Berthon P, ...

12p12

A novel human processed gene, DAD‐R, maps to 12p12 and is ...

9 May 2000 ... A cDNA of a processed gene of human DAD‐1 (defender against apoptotic cell death) was cloned from the human neuroblastoma cell line ...

12p12

Genetic variants on chromosomes 7p31 and 12p12 are associated ...

Genetic variants on chromosomes 7p31 and 12p12 are associated with abnormal atrial electrical activation in patients with early-onset lone atrial fibrillation.

12p12

Deletion 12p12 Involving SOX5 in Two Children With ...

Deletion 12p12 Involving SOX5 in Two Children With Developmental Delay and Dysmorphic Features. Ryan W.Y. Lee MD a,. *, Joann Bodurtha MD b, Julie ...

12p12

Appendix 4

Detailed Linkage Analysis Results of Three Distinct Loci Identified on Chromosome 7p22.1-7p21.3, 7p12.3- 7p11.2 and 12p13.1-12p12.2, respectively (A-C) for ...

12p12

12p12

RSP information

(COL2A1). 12p12.1-12p12.1. http://www.gdb.org/gdb-bin/genera/accno?GDB: 180743 · 5-hydroxytryptamine (serotonin) receptor 2A. (HTR2A). 13q14-13q21.

12p12

8

KIRC,LAML,LIHC,READ_Multi:12p12.3 · BLCA,COAD,HNSC,KIRC,LGG,SKCM, THCA,UCEC_Multi:12p12.1 · BRCA,CESC,HNSC,KIRP,LIHC,LUAD,THCA ...

12p12

KEGG VARIANT: 1027v1

CDKN1B cyclin dependent kinase inhibitor 1B [KO:K06624]. Organism. hsa_var Human gene variants (Homo sapiens). Variation. Allelic loss on 12p12-13.

12p12

Figure 2 | The Role of Fragile Sites in Sporadic Papillary Thyroid ...

(b) The level of DNA breakage in HTori-3 cells at RET intron 11, FHIT intron 4, 12p12.3, and G6PD with or without APH treatment was detected using LM-PCR.

12p12

TAG for KRAS

K-Ras P21 Protein Oncogene KRAS2 PR310 C-K-Ras Oncogene Transforming Protein P21 Ki-Ras c-K-ras. Cytogenetic band. NCBI: 12p12.1 Ensembl: 12p12.

12p12

(PDF) A Whole-Genome Scan and Fine-Mapping Linkage Study of ...

Suggestive linkage was found to chromo- somes 5q33, 6p12, and 12p12. No support was found for linkage to the X chromosome; furthermore, we have ...

12p12

(PDF) A Sequence-Ready Physical Map of the Region Containing ...

2000 Academic Press part of human chromosome 12p12.3–p13.2 where the natural killer gene complex (NKC) is located. The NKC includes a cluster of genes ...

12p12

Identification of novel suggestive loci for high-grade myopia in ...

22 Jul 2011 ... and rs4763417/rs10842388 on chromosomes 7p22.1–7p21.1, 7p12.3–7p11.2, and 12p12.3–12p12.1, respectively. Myopia, also known as ...

12p12

PIK3C2G (phosphatidylinositol-4-phosphate 3-kinase catalytic ...

The protein encoded by this gene belongs to the phosphoinositide 3-kinase ( PI3K) family. PI3-kinases play roles in signaling pathways involved in cell ...

12p12

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