(Q42517615)

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High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome

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Europe PubMed Central

PubMed publication ID

1 November 2017

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome (English)

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Europe PubMed Central

PubMed publication ID

1 November 2017

4

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1 November 2017

Hiroyuki Aburatani

14

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Hiroyuki Aburatani

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1 November 2017

author name string

Katsunori Fujii

1

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1 November 2017

Shumpei Ishikawa

2

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1 November 2017

Hideki Uchikawa

3

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Europe PubMed Central

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1 November 2017

Michael H Shapero

5

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Europe PubMed Central

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1 November 2017

Fan Shen

6

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1 November 2017

Jing Hung

7

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1 November 2017

Hiroshi Arai

8

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1 November 2017

Yoko Tanaka

9

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1 November 2017

Kimio Sasaki

10

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1 November 2017

Yoichi Kohno

11

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1 November 2017

Masao Yamada

12

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1 November 2017

Keith W Jones

13

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1 November 2017

Toshiyuki Miyashita

15

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1 November 2017

publication date

17 August 2007

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1 November 2017

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Europe PubMed Central

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1 November 2017

122

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1 November 2017

5

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1 November 2017

459-466

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1 November 2017

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-007-0419-Y

21 January 2018

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural variation in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array comparative genomic hybridization and its applications in cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Probe selection for high-density oligonucleotide arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome structural variation and sporadic disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy number variation: new insights in genome diversity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A nevoid basal cell carcinoma syndrome with chromosomal aberration]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PTCH mutations: distribution and analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic dosage analysis with genotyping microarrays.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Global variation in copy number in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hedgehog signaling network

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of disease genes by whole genome CGH arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution analysis of DNA copy number using oligonucleotide microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu repeats and human genomic diversity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NBCCS secondary to an interstitial chromosome 9q deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17703323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-007-0419-Y

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

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