(Q33765177)

29 July 2017

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa (English)

1 reference

29 July 2017

4

1 reference

29 July 2017

Livia Garavelli

11

0 references

Han G. Brunner

17

object named as

Han Brunner

1 reference

29 July 2017

Björn Fischer-Zirnsak

1 reference

ORCID Public Data File 2021

author name string

Thatjana Gardeitchik

1

1 reference

29 July 2017

Miski Mohamed

2

1 reference

29 July 2017

Björn Fischer

3

1 reference

29 July 2017

Dirk Lefeber

5

1 reference

29 July 2017

Baiba Lace

6

1 reference

29 July 2017

Michael Parker

7

1 reference

29 July 2017

Ki-Joong Kim

8

1 reference

29 July 2017

Bing C Lim

9

1 reference

29 July 2017

Johannes Häberle

10

1 reference

29 July 2017

Sujatha Jagadeesh

12

1 reference

29 July 2017

Ariana Kariminejad

13

1 reference

29 July 2017

Deanna Guerra

14

1 reference

29 July 2017

Michel Leão

15

1 reference

29 July 2017

Riikka Keski-Filppula

16

1 reference

29 July 2017

Leo Nijtmans

18

1 reference

29 July 2017

Bert van den Heuvel

19

1 reference

29 July 2017

Ron Wevers

20

1 reference

29 July 2017

Uwe Kornak

21

1 reference

29 July 2017

Eva Morava

22

1 reference

29 July 2017

language of work or name

1 reference

21 August 2013

1 reference

European Journal of Human Genetics

29 July 2017

1 reference

29 July 2017

22

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29 July 2017

7

1 reference

29 July 2017

888-895

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.154

29 July 2017

0 references

cites work

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Metabolic cutis laxa syndromes

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Mutations in PYCR1 cause cutis laxa with progeroid features

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Autosomal recessive cutis laxa syndrome revisited

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

De Barsy syndrome: a review of the phenotype

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

A simple salting out procedure for extracting DNA from human nucleated cells

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060105

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

22 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.154

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

21 January 2018

1 reference

12 December 2020

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

1 reference

12 December 2020

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

1 reference

12 December 2020

Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?

1 reference

12 December 2020

The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity

1 reference

12 December 2020

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

1 reference

12 December 2020

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

1 reference

12 December 2020

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

1 reference

12 December 2020

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.154

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference