(Q35710253)

9 August 2017

0 references

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup (English)

1 reference

Giovanna Stefania Colafati

9 August 2017

0 references

1 reference

Vincenzo Alfano

5

0 references

Giovanna Stefania Colafati

7

0 references

Agnese Po

Agnese Po

3

0 references

Evelina Miele

Evelina Miele

1

0 references

Angela Mastronuzzi

Angela Mastronuzzi

2

0 references

Elisabetta Ferretti

Elisabetta Ferretti

19

0 references

Franco Locatelli

18

Franco Locatelli

1 reference

9 August 2017

4

Andrea Carai

1 reference

Francesca Romana Buttarelli

9 August 2017

10

Francesca Romana Buttarelli

1 reference

9 August 2017

16

Felice Giangaspero

1 reference

9 August 2017

Annalisa Serra

6

1 reference

9 August 2017

Luisa Strocchio

8

1 reference

9 August 2017

Manila Antonelli

9

1 reference

9 August 2017

Massimo Zani

11

1 reference

9 August 2017

Sergio Ferraro

12

1 reference

9 August 2017

Amelia Buffone

13

1 reference

9 August 2017

Alessandra Vacca

14

1 reference

9 August 2017

Isabella Screpanti

15

1 reference

9 August 2017

Giuseppe Giannini

17

1 reference

9 August 2017

6 June 2015

1 reference

9 August 2017

1 reference

9 August 2017

3

1 reference

9 August 2017

13

1 reference

Creative Commons Attribution 4.0 International

9 August 2017

start time

6 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s40364-015-0038-z

0 references

cites work

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Medulloblastoma subgroups remain stable across primary and metastatic compartments

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Gli1/DNA interaction is a druggable target for Hedgehog-dependent tumors.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Targeted treatment for sonic hedgehog-dependent medulloblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

MRI surrogates for molecular subgroups of medulloblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Large cell anaplastic medulloblastoma metastatic to the scalp: tumor and derived stem-like cells features

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

mTOR pathway as a potential target in a subset of human medulloblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

High-throughput microRNA profiling of pediatric high-grade gliomas.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

BCCIP suppresses tumor initiation but is required for tumor progression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Implications of tumor location on subtypes of medulloblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

OTX2 sustains a bivalent-like state of OTX2-bound promoters in medulloblastoma by maintaining their H3K27me3 levels

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Medulloblastomics: the end of the beginning

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Molecular pathogenesis and clinical management of Fanconi anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

PARP inhibition sensitizes childhood high grade glioma, medulloblastoma and ependymoma to radiation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

DNA interstrand crosslink repair and cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Subtypes of medulloblastoma have distinct developmental origins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Expanded roles of the Fanconi anemia pathway in preserving genomic stability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Bone marrow transplantation for inherited bone marrow failure syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

The Hedgehog pathway as a drug target in cancer therapy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Hedgehog checkpoints in medulloblastoma: the chromosome 17p deletion paradigm.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Medulloblastoma as a first presentation of fanconi anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Biallelic inactivation of BRCA2 in Fanconi anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Microcephalus, medulloblastoma and excessive toxicity from chemotherapy: an unusual presentation of Fanconi anaemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

The emerging genetic and molecular basis of Fanconi anaemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Brain tumors in patients with Fanconi's anemia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Histological subtype of medulloblastoma frequently changes upon recurrence.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

SnapShot: Fanconi anemia and associated proteins.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

EZH2 and KDM6A act as an epigenetic switch to regulate mesenchymal stem cell lineage specification.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Intrathecal liposomal cytarabine and leptomeningeal medulloblastoma relapse: a valuable therapeutic option.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Sequential development of Wilms tumor and medulloblastoma in a child: an unusual presentation of fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Wilms tumor, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Genotype-phenotype correlations in Fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

MicroRNA profiling in human medulloblastoma.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Cancer in Fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Cancer incidence in persons with Fanconi anemia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Revised International Society of Paediatric Oncology (SIOP) working classification of renal tumors of childhood.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4462002

Should chromosome breakage studies be performed in patients with VACTERL association?

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS40364-015-0038-Z

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS40364-015-0038-Z

Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26064523

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S40364-015-0038-Z

1 reference

release_4zwhtdlzdbdxhiaeogxgqd7xie

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4zwhtdlzdbdxhiaeogxgqd7xie

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4462002

1 reference

9 August 2017

1 reference