Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family. (Q53749111)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Iñigo Landa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

Cristina Rodríguez-Antona

10 February 2020

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Mercedes Robledo

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

IÑAKI COMINO-MENDEZ

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Carlos Vázquez Huarte-Mendicoa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

L Javier Leandro-García

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Rocío Letón

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Javier Suela

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alfredo Santana

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Mauro Boronat Costa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Lydia Sánchez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Juan C Cigudosa

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

publication date

11 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

Genes, Chromosomes and Cancer

10 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

page(s)

922-929

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

10 February 2020

cites work

1 reference

Gross Rearrangement Breakpoint Database (GRaBD).

21 January 2018

1 reference

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

21 January 2018

1 reference

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

21 January 2018

1 reference

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

21 January 2018

1 reference

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

21 January 2018

1 reference

Genotype-phenotype correlation in von Hippel-Lindau syndrome

21 January 2018

1 reference

A novel proteasome interacting protein recruits the deubiquitinating enzyme UCH37 to 26S proteasomes

21 January 2018

1 reference

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

21 January 2018

1 reference

Overexpression of glutaredoxin-2 reduces myocardial cell death by preventing both apoptosis and necrosis.

21 January 2018

1 reference

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

21 January 2018

1 reference

Ro 60 functions as a receptor for beta(2)-glycoprotein I on apoptotic cells.

21 January 2018

1 reference

Activity profiling of deubiquitinating enzymes in cervical carcinoma biopsies and cell lines.

21 January 2018

1 reference

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

21 January 2018

1 reference

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

21 January 2018

1 reference

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome

21 January 2018

1 reference

7 January 2021

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

1 reference

7 January 2021

Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias

1 reference

7 January 2021

HRPT2 gene alterations in ossifying fibroma of the jaws

1 reference

7 January 2021

Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinoma

1 reference

7 January 2021

Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.20911

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837707%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference