Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy (Q34513151)

7 October 2017

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title

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy (English)

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7 October 2017

2

Peter N Robinson

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Luitgard Graul-Neumann

series ordinal

3

object named as

Luitgard M Graul-Neumann

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7 October 2017

Eberhard Passarge

1

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7 October 2017

10 February 2016

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European Journal of Human Genetics

7 October 2017

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7 October 2017

24

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7 October 2017

9

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7 October 2017

1244-1247

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https://scigraph.springernature.com/pub.10.1038/ejhg.2016.6

7 October 2017

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cites work

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

1 reference

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Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.

7 July 2018

1 reference

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The evolution of extracellular fibrillins and their functional domains

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989216

Dissecting the fibrillin microfibril: structural insights into organization and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989216

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

7 July 2018

1 reference

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The molecular genetics of Marfan syndrome and related disorders

7 July 2018

1 reference

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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989216

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

7 July 2018

1 reference

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Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4

7 July 2018

1 reference

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Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix

7 July 2018

1 reference

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Revised diagnostic criteria for the Marfan syndrome

7 July 2018

1 reference

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Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

7 July 2018

1 reference

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Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

7 July 2018

1 reference

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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.6

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

21 January 2018

1 reference

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De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.6

One more piece in the fibrillin puzzle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.6

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.6

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26860060

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.6

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2016.6

1 reference

7 October 2017

1 reference

7 October 2017

1 reference

PMCID

4989216