(Q36475070)

14 August 2017

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 (English)

1 reference

14 August 2017

1 reference

1 reference

Peter Conner

10

0 references

Emma Tham

Emma Tham

1

0 references

Anna Lindstrand

Anna Lindstrand

12

0 references

Daniel Nilsson

Daniel Nilsson

8

0 references

Giedre Grigelioniene

Giedre Grigelioniene

19

0 references

Ann Nordgren

Ann Nordgren

16

0 references

Gen Nishimura

18

Gen Nishimura

1 reference

14 August 2017

Erik A Eklund

2

1 reference

14 August 2017

Anna Hammarsjö

3

1 reference

14 August 2017

Per Bengtson

4

1 reference

14 August 2017

Stefan Geiberger

5

1 reference

14 August 2017

Kristina Lagerstedt-Robinson

6

1 reference

14 August 2017

Helena Malmgren

7

1 reference

14 August 2017

Gintautas Grigelionis

9

1 reference

14 August 2017

Peter Lindgren

11

1 reference

14 August 2017

Anna Wedell

13

1 reference

14 August 2017

Margareta Albåge

14

1 reference

14 August 2017

Katarzyna Zielinska

15

1 reference

14 August 2017

Nikos Papadogiannakis

17

1 reference

14 August 2017

13 May 2015

1 reference

European Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

24

1 reference

14 August 2017

2

1 reference

14 August 2017

198-207

1 reference

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Neurology of inherited glycosylation disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

The skeletal manifestations of the congenital disorders of glycosylation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Continuous growth reference from 24th week of gestation to 24 months by gender

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Precision mapping of an in vivo N-glycoproteome reveals rigid topological and sequence constraints.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717212

Expression of N-linked sialyl Le(x) determinants and O-glycans in the carbohydrate moiety of human amniotic fluid transferrin during pregnancy

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25966638

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25966638

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.91

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

25966638

1 reference