(Q84572597)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

Familial hyperaldosteronism

7 February 2020

main subject

1 reference

1

1 reference

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7 February 2020

Pablo Alberto Gonzalez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Alexis M Kalergis

7

1 reference

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7 February 2020

author name string

C B Stehr

2

1 reference

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7 February 2020

E M Riquelme

4

1 reference

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7 February 2020

T Montero

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

M J Santos

6

1 reference

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7 February 2020

C E Fardella

8

1 reference

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7 February 2020

publication date

13 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

Journal of Endocrinological Investigation

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

34

1 reference

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7 February 2020

issue

2

1 reference

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7 February 2020

page(s)

140-144

1 reference

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Germline mosaicism in a female who seemed to be a carrier by sequence analysis

7 February 2020

cites work

1 reference

12 December 2020

Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects

1 reference

12 December 2020

Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism

1 reference

12 December 2020

The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex

1 reference

12 December 2020

Aldosterone biosynthesis and action in vascular cells

1 reference

12 December 2020

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1 reference

12 December 2020

Aldosterone biosynthesis in the rat brain

1 reference

12 December 2020

Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology

1 reference

12 December 2020

Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit.

1 reference

12 December 2020

Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene

1 reference

12 December 2020

A common sequence motif associated with recombination hot spots and genome instability in humans

1 reference

12 December 2020

Genetic variation in P450c11AS in Chilean patients with low renin hypertension

1 reference

12 December 2020

Value of renin measurement, saralasin test, and acebutolol treatment in hypertension

1 reference

12 December 2020

A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension

1 reference

12 December 2020

Sodium-induced cardiac aldosterone synthesis causes cardiac hypertrophy

1 reference

12 December 2020

Haplotype analysis of CYP11B2

1 reference

12 December 2020

Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene.

1 reference

12 December 2020

NORMOKALEMIC PRIMARY ALDOSTERONISM. A DETECTABLE CAUSE OF CURABLE "ESSENTIAL" HYPERTENSION

1 reference

12 December 2020

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

1 reference

12 December 2020

New genetic insights in familial hyperaldosteronism

1 reference

12 December 2020

Measured haplotype analysis of the aldosterone synthase gene and heart size.

1 reference

12 December 2020

Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression

1 reference

12 December 2020

Cardiac aldosterone production in genetically hypertensive rats

1 reference

12 December 2020

Primary aldosteronism and hypertensive disease

1 reference

12 December 2020

Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism

1 reference

12 December 2020

Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2

1 reference

12 December 2020

Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency

1 reference

12 December 2020

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia

1 reference

12 December 2020

Activation of cardiac aldosterone production in rat myocardial infarction: effect of angiotensin II receptor blockade and role in cardiac fibrosis

1 reference

12 December 2020

Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2

1 reference

12 December 2020

Glucocorticoid-remediable aldosteronism

1 reference

12 December 2020

Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta

1 reference

12 December 2020

Contribution of gene conversion in the evolution of the human beta-like globin gene family

1 reference

12 December 2020

CLUSTAL V: multiple alignment of DNA and protein sequences.

1 reference

12 December 2020

Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone

1 reference

12 December 2020

Purification, identification and characterisation of seprase from bovine serum

1 reference

12 December 2020

Detection of germinal mosaicism in a DMD family

1 reference

12 December 2020

Recent human germ-line mutation: inferences from patients with hemophilia B.

1 reference

12 December 2020

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

12 December 2020

Identifiers

DOI

10.3275/7171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20634641%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference