Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma (Q33682367)

28 July 2017

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma (English)

1 reference

congenital adrenal hyperplasia

28 July 2017

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1 reference

Maria I New

1

1 reference

28 July 2017

Yu K Tong

2

1 reference

28 July 2017

Tony Yuen

3

1 reference

28 July 2017

Peiyong Jiang

4

1 reference

28 July 2017

Christian Pina

5

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28 July 2017

K C Allen Chan

6

1 reference

28 July 2017

Ahmed Khattab

7

1 reference

28 July 2017

Gary J W Liao

8

1 reference

28 July 2017

Mabel Yau

9

1 reference

28 July 2017

Se-Min Kim

10

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28 July 2017

Rossa W K Chiu

11

1 reference

28 July 2017

Li Sun

12

1 reference

28 July 2017

Mone Zaidi

13

1 reference

28 July 2017

Y M Dennis Lo

14

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28 July 2017

language of work or name

English

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publication date

28 February 2014

1 reference

The Journal of Clinical Endocrinology and Metabolism

28 July 2017

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28 July 2017

99

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28 July 2017

E1022-30

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28 July 2017

6

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Where the crossovers are: recombination distributions in mammals.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Counting alleles reveals a connection between chromosome 18q loss and vascular invasion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Meiotic recombinations within major histocompatibility complex of human embryos

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4037720

First-trimester fetal sex determination in maternal serum using real-time PCR

30 October 2018

1 reference

12 December 2020

Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis

1 reference

12 December 2020

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Hemangioma in the newborn: increased incidence after chorionic villus sampling

1 reference

12 December 2020

Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2014-1118

1 reference

28 July 2017

1 reference

28 July 2017

1 reference