(Q38301206)

1 September 2017

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor (English)

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single-nucleotide polymorphism

1 September 2017

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3

Sridharan Gururangan

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1 September 2017

Eric M Jackson

1

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1 September 2017

Tamim H Shaikh

2

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1 September 2017

Marilyn C Jones

4

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1 September 2017

David Malkin

5

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1 September 2017

Sarah M Nikkel

6

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1 September 2017

Craig W Zuppan

7

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1 September 2017

Luanne M Wainwright

8

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1 September 2017

Fan Zhang

9

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1 September 2017

Jaclyn A Biegel

10

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1 September 2017

31 May 2007

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1 September 2017

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1 September 2017

122

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1 September 2017

117-127

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1 September 2017

2

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0386-3

1 September 2017

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cites work

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

12 December 2020

The mammalian SWI/SNF complex and the control of cell growth

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12 December 2020

High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines

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12 December 2020

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

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12 December 2020

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

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12 December 2020

Recent segmental duplications in the human genome

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12 December 2020

hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities

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12 December 2020

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats

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12 December 2020

Continuous and widespread roles for the Swi-Snf complex in transcription

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12 December 2020

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

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12 December 2020

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

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12 December 2020

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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12 December 2020

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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12 December 2020

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors

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12 December 2020

Monosomy 22 in rhabdoid or atypical tumors of the brain.

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12 December 2020

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

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12 December 2020

Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults.

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12 December 2020

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

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12 December 2020

Fine-scale structural variation of the human genome

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12 December 2020

Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor.

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12 December 2020

A novel 22q11.2 microdeletion in DiGeorge syndrome

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12 December 2020

A high-resolution survey of deletion polymorphism in the human genome

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12 December 2020

High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications

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12 December 2020

Large-scale copy number polymorphism in the human genome

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12 December 2020

Molecular genetics of atypical teratoid/rhabdoid tumor

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12 December 2020

Segmental duplications and copy-number variation in the human genome

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12 December 2020

Combined genome-wide allelotyping and copy number analysis identify frequent genetic losses without copy number reduction in medulloblastoma

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12 December 2020

Isochromosome breakpoints on 17p in medulloblastoma are flanked by different classes of DNA sequence repeats

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12 December 2020

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

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12 December 2020

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

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12 December 2020

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

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12 December 2020

Common deletion polymorphisms in the human genome.

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12 December 2020

Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform

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12 December 2020

Common deletions and SNPs are in linkage disequilibrium in the human genome

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12 December 2020

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

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12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

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12 December 2020

Cytogenetics and molecular genetics of childhood brain tumors

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12 December 2020

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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12 December 2020

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors

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12 December 2020

High-resolution analysis of DNA copy number using oligonucleotide microarrays

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12 December 2020

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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12 December 2020

A survey of homozygous deletions in human cancer genomes

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12 December 2020

Initial sequencing and analysis of the human genome

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12 December 2020

10.1007/S00439-007-0386-3

Identifiers

DOI

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Dimensions Publication ID

1 September 2017

1011169544

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Fatcat ID

release_4fp3jadwxbhupepq4cxf4ffb2m

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Fatcat

https://api.fatcat.wiki/v0/release/4fp3jadwxbhupepq4cxf4ffb2m

24 November 2022

mapped directly with Wikidata item

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