(Q37269938)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085972%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene (English)

1 reference

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18 January 2020

1 reference

2

1 reference

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18 January 2020

author name string

N Winer

1

1 reference

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18 January 2020

A Paumier

3

1 reference

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18 January 2020

A David

4

1 reference

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18 January 2020

B Isidor

5

1 reference

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18 January 2020

M Quentin

6

1 reference

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18 January 2020

B Jouitteau

7

1 reference

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18 January 2020

P Sanyas

8

1 reference

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18 January 2020

H J Philippe

9

1 reference

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18 January 2020

A Hernandez

10

1 reference

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18 January 2020

D Krakow

11

1 reference

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18 January 2020

C Le Caignec

12

1 reference

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18 January 2020

publication date

1 February 2009

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18 January 2020

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18 January 2020

volume

29

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18 January 2020

issue

2

1 reference

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18 January 2020

page(s)

172-174

1 reference

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Prenatal diagnosis and obstetric management of Larsen syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Mutations in two regions of FLNB result in atelosteogenesis I and III.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2713786

Prenatal sonographic diagnosis of Larsen syndrome

3 September 2018

1 reference

12 December 2020

Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae

1 reference

12 December 2020

Brain dysplasia associated with Larsen-like syndrome

1 reference

12 December 2020

Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant

1 reference

12 December 2020

Identifiers

DOI

10.1002/PD.2164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085972%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

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18 January 2020

PubMed publication ID

19085972

1 reference