Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family (Q38901898)

7 September 2017

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family (English)

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congenital adrenal hyperplasia

7 September 2017

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author

Paul-Martin Holterhus

11

object named as

Paul-Martin Holterhus

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Ilhem Ben Charfeddine

1

object named as

Ilhem Ben Charfeddine

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author name string

Felix G Riepe

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7 September 2017

Najoua Kahloul

3

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7 September 2017

Alexandra E Kulle

4

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7 September 2017

Labiba Adala

5

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7 September 2017

Ons Mamaï

6

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7 September 2017

Abdelbasset Amara

7

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7 September 2017

Amira Mili

8

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7 September 2017

Fathi Amri

9

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7 September 2017

Ali Saad

10

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7 September 2017

Moez Gribaa

12

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7 September 2017

22 December 2011

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General and Comparative Endocrinology

7 September 2017

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7 September 2017

175

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7 September 2017

514-518

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7 September 2017

3

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Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population

7 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Genetics of congenital adrenal hyperplasia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Construction of 3D models of the CYP11B family as a tool to predict ligand binding characteristics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Congenital adrenal hyperplasia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

7 January 2021

The meaning of nonsense

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https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

Human Gene Mutation Database: towards a comprehensive central mutation database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGCEN.2011.12.017

10.1016/J.YGCEN.2011.12.017

7 January 2021

Identifiers

DOI

1 reference

7 September 2017

1 reference