(Q36068963)

12 August 2017

CD45-deficient severe combined immunodeficiency caused by uniparental disomy (English)

1 reference

severe combined immunodeficiency

12 August 2017

1 reference

5

Alla Lapidus

0 references

Roland Dunbrack

10

object named as

Roland L Dunbrack

1 reference

12 August 2017

Joseph L Roberts

1

1 reference

12 August 2017

Rebecca H Buckley

2

1 reference

12 August 2017

Biao Luo

3

1 reference

12 August 2017

Jianming Pei

4

1 reference

12 August 2017

Suraj Peri

6

1 reference

12 August 2017

Qiong Wei

7

1 reference

12 August 2017

Jinwook Shin

8

1 reference

12 August 2017

Roberta E Parrott

9

1 reference

12 August 2017

Joseph R Testa

11

1 reference

12 August 2017

Xiao-Ping Zhong

12

1 reference

12 August 2017

David L Wiest

13

1 reference

12 August 2017

language of work or name

English

0 references

publication date

11 June 2012

1 reference

Proceedings of the National Academy of Sciences of the United States of America

12 August 2017

1 reference

12 August 2017

109

1 reference

12 August 2017

26

1 reference

12 August 2017

10456-10461

1 reference

describes a project that uses

12 August 2017

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC3387083

inferred from PubMed Central ID database lookup

cites work

Pathogenesis and consequences of uniparental disomy in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Galectin-8-N-domain Recognition Mechanism for Sialylated and Sulfated Glycans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

A map of human genome variation from population-scale sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Uniparental disomy and human disease: an overview.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The Pfam protein families database

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The Sequence Alignment/Map format and SAMtools

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Genomic imprinting and imprinting defects in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Peptidoglycan recognition proteins are a new class of human bactericidal proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The Universal Protein Resource (UniProt)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The DISOPRED server for the prediction of protein disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

MUSCLE: multiple sequence alignment with high accuracy and high throughput

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

AL2CO: calculation of positional conservation in a protein sequence alignment.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

A deletion in the gene encoding the CD45 antigen in a patient with SCID.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

The imprinted gene and parent-of-origin effect database

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Mechanisms leading to uniparental disomy and their clinical consequences

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Uniparental disomy in cartilage-hair hypoplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Normal B lymphocyte development but impaired T cell maturation in CD45-exon6 protein tyrosine phosphatase-deficient mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Uniparental disomy as a mechanism for human genetic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Scoring profile-to-profile sequence alignments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

11 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

Further evidence of association of OPRD1 & HTR1D polymorphisms with susceptibility to anorexia nervosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

A highly sensitive selection method for directed evolution of homing endonucleases

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387083

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

21 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

Tyrosine phosphatase CD45 is essential for coupling T-cell antigen receptor to the phosphatidyl inositol pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1202249109

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22689986

12 December 2020

inferred from PubMed ID database lookup

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22689986

12 December 2020

inferred from PubMed ID database lookup

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22689986

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.1202249109

1 reference

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

22689986

1 reference