(Q56982423)

1

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L Baldazzi

3

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M Barbaro

4

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A Nicoletti

5

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V Conti

6

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P Pirazzoli

7

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A Wedell

8

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A Cicognani

Journal of Endocrinological Investigation

9

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language of work or name

English

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publication date

March 2012

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published in

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volume

35

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issue

3

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page(s)

298-305

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exact match

https://scigraph.springernature.com/pub.10.3275/7680

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cites work

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Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

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Impact of molecular genetics on congenital adrenal hyperplasia management

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

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Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

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mRNAs have greater negative folding free energies than shuffled or codon choice randomized sequences

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Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

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A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

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High frequency of nonclassical steroid 21-hydroxylase deficiency

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Late-Onset Steroid 21-Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia*

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Extensive clinical experience: nonclassical 21-hydroxylase deficiency

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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

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A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

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Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

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Prediction of mammalian microRNA targets

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Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia

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Combinatorial microRNA target predictions

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The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level

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Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

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Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

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Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests

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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

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Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.

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Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

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An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity

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Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.

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Structure of human steroid 21-hydroxylase genes

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Human MicroRNA targets

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Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

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CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

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Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency

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Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.

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A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

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miRBase: microRNA sequences, targets and gene nomenclature

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CYP21 mutations and congenital adrenal hyperplasia

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A combined computational-experimental approach predicts human microRNA targets

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CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

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Genetics of congenital adrenal hyperplasia

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