A molecular and clinical study of Larsen syndrome caused by mutations in FLNB (Q34568647)

3 August 2017

title

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

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3 August 2017

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14

John G Pappas

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Helen Firth

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David L Rimoin

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Ralph S Lachman

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Louise S Bicknell

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3 August 2017

Thomy de Ravel

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ORCID Public Data File 2021

Sheila Unger

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object named as

Sheila Unger

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Chong Ae Kim

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Jean-Pierre Fryns

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3 August 2017

author name string

Claire Farrington-Rock

2

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3 August 2017

Yousef Shafeghati

3

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3 August 2017

Patrick Rump

4

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3 August 2017

Yasemin Alanay

5

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3 August 2017

Yves Alembik

6

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3 August 2017

Navid Al-Madani

7

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3 August 2017

Mohammad Hassan Karimi-Nejad

9

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3 August 2017

Kathryn Leask

11

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3 August 2017

Melissa Maisenbacher

12

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3 August 2017

Ellen Moran

13

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Paolo Prontera

15

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3 August 2017

Elizabeth Sweeney

18

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3 August 2017

Alan Fryer

19

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L C Wilson

21

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Daniel H Cohn

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3 August 2017

Deborah Krakow

25

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3 August 2017

Stephen P Robertson

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3 August 2017

language of work or name

English

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publication date

26 June 2006

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Journal of Medical Genetics

3 August 2017

published in

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3 August 2017

volume

44

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3 August 2017

issue

2

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3 August 2017

page(s)

89-98

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Filamin is essential for shedding of the transmembrane serine protease, epithin

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Mutations in FLNB cause boomerang dysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Multiple congenital dislocations associated with characteristic facial abnormality

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

The limits of promiscuity: isoform-specific dimerization of filamins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

A new member of the LIM protein family binds to filamin B and localizes at stress fibers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Filamins as integrators of cell mechanics and signalling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Interaction of presenilins with the filamin family of actin-binding proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Atelosteogenesis syndromes: a review, with comments on their pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Prenatal diagnosis and obstetric management of Larsen syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Larsen's syndrome: review of the literature and analysis of thirty-eight cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Severe cardiac anomalies in sibs with Larsen syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

[Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate]

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Mixed hearing loss in Larsen syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

A further patient with the lethal type of Larsen syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Ossicular abnormality in Larsen's syndrome: a case report

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Atelosteogenesis I and boomerang dysplasia: a question of nosology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

IBM-PC compatible software for establishing metacarpophalangeal pattern profiles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Sevoflurane for general anaesthetic management in a patient with Larsen syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

General Anaesthesia in a Child with Larsen Syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Larsen syndrome in siblings with consanguineous parents

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

The association of a hearing deficit with Larsen's syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598053

Striking aortic root dilation in a patient with the Larsen syndrome

27 October 2018

1 reference

12 December 2020

Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation

1 reference

12 December 2020

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

1 reference

12 December 2020

The Larsen syndrome. The diagnostic contribution of the analysis of the metacarpophalangeal pattern profile

1 reference

12 December 2020

Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism

1 reference

12 December 2020

Glaucoma with a Larsen-like syndrome

1 reference

12 December 2020

Cervical kyphosis in patients who have Larsen syndrome

1 reference

12 December 2020

Brain dysplasia associated with Larsen-like syndrome

1 reference

12 December 2020

Malformation and stenosis of the cricoid cartilage in association with Larsen's syndrome

1 reference

12 December 2020

Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission

1 reference

12 December 2020

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

1 reference

12 December 2020

Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome

1 reference

12 December 2020

Larsen's syndrome: a heritable disorder

1 reference

12 December 2020

Spinal instability in Larsen's syndrome: report of three cases

1 reference

12 December 2020

Clinical features and treatment of joint dislocations in Larsen's syndrome. Report of three cases in one family

1 reference

12 December 2020

Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome

1 reference

12 December 2020

A lethal, Larsen-like multiple joint dislocation syndrome

1 reference

12 December 2020

Cardiovascular manifestations in the Larsen syndrome

1 reference

12 December 2020

A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age

1 reference

12 December 2020

Applications of the pattern variability index (sigma z) to the quantification of dysmorphogenesis in the hand

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

1 reference

12 December 2020

Autosomal dominant inheritance in Larsen's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.043687

1 reference

release_gqvaa4uftjcabfenvc63vh5fky

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gqvaa4uftjcabfenvc63vh5fky

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2598053

1 reference

3 August 2017

1 reference