13Q13

Genotype-phenotype correlation in 13q13.3-q21.3 deletion.

21 Jun 2011 ... Genotype-phenotype correlation in 13q13.3-q21.3 deletion. Tosca L(1), Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, ...

13q13

Chromosome 13

13 13p 13q 13p13 13p12 13p11 13q11 13q12 13q13 13q14 13q21 13q22 13q31 13q32 13q33 13q34. Leukemias Tumors Kprones External links Genes ...

13q13

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient ...

16 Jan 2014 ... Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation ...

13q13

13q13

chr13:31600000-39500000 (7900 Kb). Chromosomal abnormalities in band 13q13; Genes in band 13q13 (reference hg38); External links; References ...

13q13

Chromosome 12q13.13q13.13 microduplication and microdeletion ...

19 Jun 2019 ... There are only a handful of patients with a copy number variation (CNV) in the 12q13.13 or 12q13.13q13.2 region reported in the literature.

13q13

Mosaic 13q13.2-ter deletion restricted to tissues of ectoder ...

Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins. Melis, Daniela a; Pia Sperandeo, Maria b; Perone, Lucia a; Staiano, ...

13q13

Genotype–phenotype correlation in 13q13.3–q21.3 deletion ...

First patient was a 3-year-old girl with mental retardation and dysmorphy carrying a 13q13.3q21.31 de novo deletion diagnosed post-natally. The second one ...

13q13

Human hg19 13q13.1 UCSC Genome Browser v393

move start, Click on a feature for details. Click or drag in the base position track to zoom in. Click side bars for track options. Drag side bars or labels up or down ...

13q13

Chromosome 13q13–q14 locus overlaps mood and psychotic ...

28 Jan 2009 ... Our data suggest a susceptibility locus in 13q13–q14 that is shared by schizophrenia and mood disorder. That locus would be additional to ...

13q13

13q13.1

13q13

Linkage analysis of genetic loci for kyphoscoliosis on chromosomes ...

4 Apr 2006 ... Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13 .3, and 13q32. Am J Med Genet Part A 140A:1059–1068.

13q13

(PDF) Chromosome 12q13.13q13.13 microduplication and ...

5 Nov 2019 ... Chromosome 12q13.13 or 12q13.13q13.2 duplications and deletions found in our patient and previously reported patients. The top panel ...

13q13

Follow-up of a major psychosis linkage site in 13q13-q14 reveals ...

Abstract: We previously reported a genome-wide significant linkage for major psychosis in chromosome 13q13-q14.An association analysis was conducted in  ...

13q13

13q13-q32 locus | Hereditary Ocular Diseases

This is an autosomal dominant disorder secondary to a mutation located at 13q13-q32. The specific mutation responsible has not been identified but a large  ...

13q13

GWAS Catalog

Location: 13:36859584 Cytogenetic region:13q13.3 Most severe consequence: Intron variant Mapped gene(s): SMAD9. Associations 1 Studies 1 ...

13q13

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at ...

In the article entitled “Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma” (Volume 37, ...

13q13

GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1Rat ...

Variant : CV153965 (GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876) x1) Homo sapiens. Symbol: CV153965. Name: GRCh38/hg38 ...

13q13

An SNP linkage scan identifies significant Crohn's disease loci on ...

An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29. Y. Y. Shugart, M. S. ...

13q13

13q13.1–q13.2 deletion in tetralogy of Fallot: Clinical report and a ...

5 Jul 2010 ... Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other ...

13q13

Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and ...

The '13q-' syndrome shows widely variable manifestations. Investigation of the involvement of different tissues has never been reported in patients with 13q- ...

13q13

Multiple myeloma (MM) with deletion of 13q13 is characterized by ...

Multiple myeloma (MM) with deletion of 13q13 is characterized by increased bone marrow (BM) neovascularization - Implications for treatment of high-risk ...

13q13

Gene Mutation Browser

BRCA2, 600185 · 600185, 13q13.1, 1-BP DEL, 6174T, FS, 0009, BREAST CANCER 2, EARLY-ONSET, 1. BRCA2, 600185 · 600185, 13q13.1, 2-BP DEL, ...

13q13

13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a ...

Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects.

13q13

Chromosome 12q13.13q13.13 microduplication and ... - Altmetric

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review. Overview of attention for article published in Molecular ...

13q13

Chromosome 13 | Cancer Genetics Web

22 Aug 2019 ... LHFP, 13q13.3-q14.11, Somatic. LCP1, 13q14.13, LPL, CP64, PLS2, LC64P, HEL-S-37, L-PLASTIN, Somatic. BRCA2, 13q13.1, FAD, FACD, ...

13q13

Polysomy 13 with concomitant deletion of 13q13-14 involving the ...

Polysomy 13 with concomitant deletion of 13q13-14 involving the retinoblastoma gene and the D13S25 locus in a case of acute myeloid leukemia ...

13q13

Chromosome 12q13.13q13.13 microduplication and microdeletion ...

CASE REPORT Open Access Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review Jie Hu1,2*, Zhishuo Ou1, ...

13q13

A 20.5-MB GERMLINE DELETION OF 13q13.1[arrow right]q14.3 ...

A 20.5-MB GERMLINE DELETION OF 13q13.1[arrow right]q14.3 AND SOMATIC MUTATIONS OF THE RB1 GENE IN AN 8-YEAR-OLD GIRL WITH ...

13q13

Fast-track

SNP, MAF, P, Position, Mapped gene, Mapped trait, OR or Beta, Year, First author, Pubmed. rs1926320. Hg 0.235. T C. Tg 0.234. T C. 1e-8. 13q13.3 · chr13:  ...

13q13

Whole-genome single nucleotide polymorphism-based linkage ...

14 Aug 2019 ... ... single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13.

13q13

BAC 13

RP11-367C11, AL138965, 13q12.3, chr13:30,684,840-30,822,998. RP11-159O9 , ends, 13q13.1, chr13:31,189,033-31,377,689. RP11-237E3, ends, 13q13.1 ...

13q13

Chromosome 12q13. 13q13. 13 microduplication and microdeletion ...

Title: Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review. Author(s): Jie Hu, Zhishuo Ou, Elena Infante, Sally ...

13q13

The portal for rare diseases and orphan drugs

... TAHCCP1; Previous symbols and names : SPG20, spastic paraplegia 20 ( Troyer syndrome); Type : gene with protein product; Chromosomal location : 13q13.

13q13

(PDF) Neurobeachin ( NBEA) is a target of recurrent interstitial ...

2009 February ; 37(2): 234–244. doi:10.1016/j.exphem.2008.10.014. Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with ...

13q13

Genatlas sheet

23 Feb 2004 ... Location, 13q13.2 Physical location : 41.303.432 - 41.345.347. Synonym name, imogen 38. Synonym symbol(s), IMOGN38,MRP-S31 ...

13q13

Table 1. New associations with a second cancer at known single ...

New association with ovarian cancer at a known index SNP for breast cancer ( same direction). 13q13, rs11571833, T/A, Ovarian cancer, 1.57 (1.33–1.85) ...

13q13

TAG for BRCA2

Breast Cancer 2 Tumor Suppressor Breast Cancer Type 2 Susceptibility Protein. Cytogenetic band. NCBI: 13q12.3 Ensembl: 13q13.1. Protein information ...

13q13

CCNA1

8900, 13, 13q13.3, NM_003914. Additional content available in CKB BOOST. © 2019 THE JACKSON LABORATORY Website content is for educational and ...

13q13

orpha:101000

gene (13q13.1), which encodes the protein spartin. Export Associations. HPO Associations. Gene Associations. Inheritance [ 1 annotation ]. Term Identifier Term ...

13q13

Hs1024

Gene Information. Human Gene, Full Name, HGNC, Location, Fly Gene, Chr. MAB21L1, mab-21 like 1, HGNC:6757, 13q13.3, mab-21, X. Construct Information ...

13q13

Comments



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