(Q35673470)

9 August 2017

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population (English)

1 reference

9 August 2017

0 references

8

Lucio Luzzatto

1 reference

9 August 2017

Roberta Russo

1

1 reference

9 August 2017

Antonella Gambale

2

1 reference

9 August 2017

Maria Rosaria Esposito

3

1 reference

9 August 2017

Maria Luisa Serra

4

1 reference

9 August 2017

Annaelena Troiano

5

1 reference

9 August 2017

Ilaria De Maggio

6

1 reference

9 August 2017

Mario Capasso

7

1 reference

9 August 2017

Jean Delaunay

9

1 reference

9 August 2017

Hannah Tamary

10

1 reference

9 August 2017

Achille Iolascon

11

1 reference

9 August 2017

language of work or name

1 reference

1 September 2011

1 reference

American Journal of Hematology

9 August 2017

1 reference

9 August 2017

86

1 reference

9 August 2017

9

1 reference

9 August 2017

727-732

1 reference

E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Coordination of COPII vesicle trafficking by Sec23.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

A second generation human haplotype map of over 3.1 million SNPs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Haploview: analysis and visualization of LD and haplotype maps

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

12 July 2018

1 reference

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.

21 January 2018

1 reference

Frequency of congenital dyserythropoietic anemias in Europe

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258542

What makes a good genetic association study?

25 September 2018

1 reference

Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850656

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850656

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850656

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJH.22096

1 reference

9 August 2017

1 reference

9 August 2017

1 reference