Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency - Wikidata - thesis-toulmin - TriplyDB

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

http://www.wikidata.org/entity/Q24619813

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Management of adolescents with congenital adrenal hyperplasia Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.Treatment and health outcomes in adults with congenital adrenal hyperplasia.Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.Newborn screening for congenital adrenal hyperplasia in New York State.Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.Genetics of congenital adrenal hyperplasia.Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.Non-Classical Congenital Adrenal Hyperplasia in Childhood.17-Hydroxyprogesterone in children, adolescents and adults.Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.High frequency of splice site mutation in 21-hydroxylase deficiency children.A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer.Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

http://www.wikidata.org/entity/Q24619813

description

2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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name

Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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PNAS.1300057110

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

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Genotype-phenotype correlation ...... g to 21-hydroxylase deficiency

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Brian Gonzalez

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David Chitayat

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Li Sun

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Maria I New

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Maryam Razzaghy-Azar

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Miroslav Dumic

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Mone Zaidi

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Moolamannil Abraham

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Robert C Wilson

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Tony Yuen

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

Extensive clinical experience: nonclassical 21-hydroxylase deficiency.

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

Mutation analysis of the CYP21A2 gene in the Iranian population.

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.

Abundant adrenal-specific transcription of the human P450c21A "pseudogene".

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