(Q34049839)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

review article

1 reference

title

Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure (English)

1 reference

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31 October 2019

0 references

1

1 reference

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31 October 2019

author name string

S Pearce

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

P Kendall-Taylor

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

published in

Clinical Endocrinology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

403-418

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11012564%20AND%20SRC:MED&resulttype=core&format=json

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

31 October 2019

cites work

1 reference

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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

21 January 2018

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

21 January 2018

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Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

21 January 2018

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Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome

21 January 2018

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Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease

21 January 2018

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Type 2 polyglandular autoimmune disease (Schmidt's syndrome).

21 January 2018

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Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

21 January 2018

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The HLA-DQ beta non-Asp-57 allele: a predictor of future insulin-dependent diabetes mellitus in patients with autoimmune Addison's disease

21 January 2018

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Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein

21 January 2018

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

21 January 2018

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Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome

21 January 2018

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Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

21 January 2018

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CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus.

21 January 2018

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The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder

21 January 2018

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The Polyglandular Failure Syndrome: Disease Inheritance, HLA Type, and Immune Function

21 January 2018

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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

21 January 2018

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Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene

21 January 2018

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Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

21 January 2018

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Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

21 January 2018

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Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

21 January 2018

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Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

21 January 2018

1 reference

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SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

21 January 2018

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Endocrine dysfunction in Kearns-Sayre syndrome

21 January 2018

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Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years.

21 January 2018

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Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure

21 January 2018

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Addison's disease in identical twins.

21 January 2018

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Mutation analyses of North American APS-1 patients

21 January 2018

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Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity

21 January 2018

1 reference

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Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.

21 January 2018

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Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

21 January 2018

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Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism

21 January 2018

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Eighty-six cases of Addison's disease

21 January 2018

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Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.

21 January 2018

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A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism.

21 January 2018

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Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase

21 January 2018

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Genetic dissection of complex traits

21 January 2018

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Etiological diagnosis of primary adrenal insufficiency using an original flowchart of immune and biochemical markers.

21 January 2018

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X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients

21 January 2018

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Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

21 January 2018

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A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

21 January 2018

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Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.

21 January 2018

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Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

21 January 2018

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Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

21 January 2018

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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

21 January 2018

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The cloning of a family of genes that encode the melanocortin receptors

21 January 2018

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

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Positional cloning of the APECED gene

21 January 2018

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Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess

21 January 2018

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A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1

21 January 2018

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Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies

21 January 2018

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Dietary erucic acid therapy for X-linked adrenoleukodystrophy

21 January 2018

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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

21 January 2018

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Autoimmune Addison's disease and thyrotoxic thyroiditis presenting as encephalopathy in twins

21 January 2018

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Adrenomyeloneuropathy presenting as Addison's disease in childhood

21 January 2018

1 reference

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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

21 January 2018

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Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.

21 January 2018

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Auto-immune Addison's disease in identical twins

21 January 2018

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ANALGESIC DRUGS FOR RHEUMATISM.

21 January 2018

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X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

21 January 2018

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

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Clinical and Genetic Heterogeneity in Idiopathic Addison's Disease and Hypoparathyroidism

21 January 2018

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The role of the StAR protein in steroidogenesis: challenges for the future

21 January 2018

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Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13

21 January 2018

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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

21 January 2018

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Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis

21 January 2018

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Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

21 January 2018

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A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

21 January 2018

1 reference

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

21 January 2018

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Genetic analysis of autoimmune disease

21 January 2018

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Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

21 January 2018

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Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4

21 January 2018

1 reference

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Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster

21 January 2018

1 reference

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Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment

21 January 2018

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Disorders of steroid 11 beta-hydroxylase isozymes

21 January 2018

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Congenital adrenal hyperplasia. (1).

21 January 2018

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Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease

21 January 2018

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21-Hydroxylase, a major autoantigen in idiopathic Addison's disease

21 January 2018

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17 alpha-Hydroxylase/17,20-lyase defects.

21 January 2018

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Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

21 January 2018

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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

21 January 2018

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Polyglandular autoimmune syndrome type I among Iranian Jews

21 January 2018

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The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry

21 January 2018

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