(Q24533389)

4 July 2017

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family (English)

1 reference

chronic mucocutaneous candidiasis

4 July 2017

1 reference

0 references

author name string

T P Atkinson

1

1 reference

4 July 2017

A A Schäffer

2

1 reference

4 July 2017

B Grimbacher

3

1 reference

4 July 2017

H W Schroeder

4

1 reference

4 July 2017

C Woellner

5

1 reference

4 July 2017

C S Zerbe

6

1 reference

4 July 2017

J M Puck

7

1 reference

4 July 2017

language of work or name

English

0 references

publication date

21 August 2001

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

69

1 reference

4 July 2017

4

1 reference

4 July 2017

791-803

1 reference

Initial sequencing and analysis of the human genome

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Positional cloning of the APECED gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Gene defect behind APECED: a new clue to autoimmunity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Comprehensive human genetic maps: individual and sex-specific variation in recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Easy calculations of lod scores and genetic risks on small computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Chronic mucocutaneous candidiasis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Evidence for a new Graves disease susceptibility locus at chromosome 18q21.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Genetic linkage of hyper-IgE syndrome to chromosome 4.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

A new Graves disease-susceptibility locus maps to chromosome 20q11.2. International Consortium for the Genetics of Autoimmune Thyroid Disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Familial chronic muco-cutaneous candidiasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Sensitivity of lod scores to changes in diagnostic status

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Specific inhibition of in vitro Candida-induced lymphocyte proliferation by polysaccharidic antigens present in the serum of patients with chronic mucocutaneous candidiasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Integrating parallelization strategies for linkage analysis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Mucocutaneous candidiasis, anergy and a plasma inhibitor of cellular immunity: reversal after amphotericin B therapy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Mucocutaneous Candidiasis in a Mother and Son

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

An unusual combination of immunologic abnormalities in a patient with chronic mucocutaneous candidiasis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

IgG2/IgG4 subclass deficiency in a patient with chronic mucocutaneous candidiasis and bronchiectases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Familial Neutrophil Chemotaxis Defect, Recurrent Bacterial Infections, Mucocutaneous Candidiasis, and Hyperimmunoglobulinemia E

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

The development of Graves' disease and the CTLA-4 gene on chromosome 2q33

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Linkage analysis of candidate genes in autoimmune thyroid disease. III. Detailed analysis of chromosome 14 localizes Graves' disease-1 (GD-1) close to multinodular goiter-1 (MNG-1). International Consortium for the Genetics of Autoimmune Thyroid Dis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Automatic selection of loop breakers for genetic linkage analysis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Avoiding recomputation in linkage analysis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Chronic mucocutaneous candidiasis in childhood and complications of non-Candida infection: a report of the Pediatric Immunodeficiency Collaborative Study Group

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226065

Chronic Mucocutaneous Candidiasis: Immunologic and Antibiotic Therapy

29 November 2018

1 reference

12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

1 reference

12 December 2020

Serum levels of immune globulins in health and disease: a survey

1 reference

12 December 2020

Immunological observations in chronic mucocutaneous candidiasis

1 reference

12 December 2020

Prolonged Oral Treatment of Chronic Mucocutaneous Candidiasis With Amphotericin B

1 reference

12 December 2020

The syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis

1 reference

12 December 2020

Autoimmune hemolytic anemia in a patient with autosomal dominant chronic mucocutaneous candidiasis

1 reference

12 December 2020

Defective handling of mannan by monocytes in patients with chronic mucocutaneous candidiasis resulting in a specific cellular unresponsiveness

1 reference

12 December 2020

Monilial granuloma with hypothyroidism: report of a case treated with amphotericin B

1 reference

12 December 2020

Cimetidine as an immunomodulator: chronic mucocutaneous candidiasis as a model

1 reference

12 December 2020

Mannan-specific and mannan-induced T-cell suppressive activity in patients with chronic mucocutaneous candidiasis

1 reference

12 December 2020

Chronic mucocutaneous candidiasis. II. Class and subclass of specific antibody responses in vivo and in vitro

1 reference

12 December 2020

Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves' disease: replication using a population case control and family-based study

1 reference

12 December 2020

Chronic mucocutaneous candidiasis as a surface expression of deep-seated abnormalities. Report of a syndrome of superficial candidiasis, absence of delayed hypersensitivity and aminoaciduria

1 reference

12 December 2020

Riedel's thyroiditis: an autoimmune or primary fibrotic disease?

1 reference

12 December 2020

Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions

1 reference

12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

Five Cases (Three in Siblings) of Idiopathic Hypoparathyroidism Associated with Moniliasis1

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F323611

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/323611

1 reference

4 July 2017

1 reference

4 July 2017

1 reference