(Q34200702)

31 July 2017

title

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. (English)

1 reference

31 July 2017

main subject

thanatophoric dysplasia

1 reference

Angela N Barrett

3

0 references

Lyn S Chitty

object named as

Lyn S Chitty

1

0 references

Asma Khalil

2

object named as

Asma Khalil

1 reference

31 July 2017

Eva Pajkrt

4

1 reference

31 July 2017

David R Griffin

5

1 reference

31 July 2017

Tim J Cole

6

1 reference

31 July 2017

publication date

14 February 2013

1 reference

31 July 2017

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31 July 2017

volume

33

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31 July 2017

issue

5

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31 July 2017

page(s)

416-423

1 reference

Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Early prenatal diagnosis of skeletal anomalies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Molecular prenatal diagnosis: the impact of modern technologies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Prenatal sonographic diagnosis of skeletal dysplasias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

SAFE--the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Charts of fetal size: 2. Head measurements

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Bone dysplasias: the prenatal diagnostic challenge.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Smoothing reference centile curves: the LMS method and penalized likelihood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

5 July 2018

1 reference

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

Prenatal diagnosis of the skeletal dysplasias.

21 January 2018

1 reference

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases

21 January 2018

1 reference

First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.

21 January 2018

1 reference

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

21 January 2018

1 reference

Antenatal detection of skeletal dysplasias.

21 January 2018

1 reference

Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias

21 January 2018

1 reference

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

21 January 2018

1 reference

Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Charts of fetal size: 4. Femur length

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Charts of fetal size: 3. Abdominal measurements.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166694

Epigenetic Analysis of RASSF1A Gene in Cell-Free DNA in Amniotic Fluid

28 October 2018

1 reference

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis

21 January 2018

1 reference

12 December 2020

Thanatophoric dysplasia: role of 3-dimensional sonography

1 reference

12 December 2020

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

1 reference

12 December 2020

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia

1 reference

12 December 2020

Antenatal diagnosis of lethal skeletal dysplasias

1 reference

12 December 2020

Identifiers

DOI

10.1002/PD.4066

1 reference

31 July 2017

1 reference

31 July 2017

1 reference