Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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Christian Gilissen | Alexander Hoischen | Ron A Wevers | Eva Morava | A. Hoischen | J. Veltman | R. Rodenburg | C. Gilissen | E. Jamroz | R. Wevers | L. P. Van den Heuvel | C. Thiel | E. Morava | D. Lefeber | Ilse Eidhof | J. Paprocka | M. Adamowicz | Richard J Rodenburg | C. Körner | Christian Thiel | L. Lehle | S. Timal | K. Huijben | J. Sykut-Cegielska | F. V. van Spronsen | Dirk J Lefeber | Ludwig Lehle | Christian Körner | Joris Veltman | Sharita Timal | Karin Huijben | Maciej Adamowicz | Jolanta Sykut-Cegielska | Justyna Paprocka | Ewa Jamroz | Francjan J van Spronsen | Ilse Eidhof | Lambert Van den Heuvel | Karin Huijben
[1] G. Matthijs,et al. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip , 2012, Human mutation.
[2] J. Schuurs-Hoeijmakers,et al. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation , 2011, PLoS genetics.
[3] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[4] Madhuri R Hegde,et al. Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation , 2011, Genetics in Medicine.
[5] Andrew B Singleton,et al. Exome sequencing: a transformative technology , 2011, The Lancet Neurology.
[6] Christian Gilissen,et al. Unlocking Mendelian disease using exome sequencing , 2011, Genome Biology.
[7] E. Morava,et al. How to find and diagnose a CDG due to defective N-glycosylation , 2011, Journal of Inherited Metabolic Disease.
[8] Barbara Imperiali,et al. The expanding horizons of asparagine-linked glycosylation. , 2011, Biochemistry.
[9] S. Robertson,et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss , 2011, Nature Genetics.
[10] L. Braiterman,et al. Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking. , 2011, American journal of physiology. Gastrointestinal and liver physiology.
[11] Stephan Züchner,et al. Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family , 2011, Annals of neurology.
[12] G. Kuhlenbäumer,et al. Novel genomic techniques open new avenues in the analysis of monogenic disorders , 2011, Human mutation.
[13] J. Jaeken,et al. Congenital disorders of glycosylation , 2010, Annals of the New York Academy of Sciences.
[14] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[15] J. van Reeuwijk,et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. , 2010, Brain : a journal of neurology.
[16] Christian Gilissen,et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. , 2010, American journal of human genetics.
[17] T. Walsh,et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. , 2010, American journal of human genetics.
[18] A. Afenjar,et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations , 2010, Journal of Medical Genetics.
[19] H. Freeze,et al. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder , 2010, Cell.
[20] Christian Gilissen,et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.
[21] A. Hoischen,et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. , 2010, American journal of human genetics.
[22] K. Claeys,et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. , 2009, The New England journal of medicine.
[23] Thierry Hennet,et al. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol‐linked oligosaccharides , 2009, Human mutation.
[24] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[25] J. Hofsteenge,et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. , 2009, American journal of human genetics.
[26] J. Prestegard,et al. Solution structure of Alg13: the sugar donor subunit of a yeast N-acetylglucosamine transferase. , 2008, Structure.
[27] R. Wevers,et al. Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps , 2008, Journal of Inherited Metabolic Disease.
[28] M. Zaffanello,et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. , 2005, Glycobiology.
[29] W. Tanner,et al. Solubilization and Characterization of the Initial Enzymes of the Dolichol Pathway from Yeast , 2005 .
[30] K. von Figura,et al. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. , 2004, American journal of human genetics.
[31] H. Freeze,et al. Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij , 2003, Human mutation.
[32] K. von Figura,et al. A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis* , 2003, Journal of Biological Chemistry.
[33] F. Hanefeld,et al. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. , 2002, The Biochemical journal.
[34] M. Lehrman,et al. Conserved sequences in enzymes of the UDP-GlcNAc/MurNAc family are essential in hamster UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase. , 1998, Glycobiology.
[35] E. Schaftingen,et al. Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I , 1995, FEBS letters.
[36] P. Orlean,et al. A 13-amino acid peptide in three yeast glycosyltransferases may be involved in dolichol recognition. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[37] Yigong Shi,et al. The 1.9 Å crystal structure of Escherichia coli MurG, a membrane‐associated glycosyltransferase involved in peptidoglycan biosynthesis , 2000, Protein science : a publication of the Protein Society.
[38] H. G. Eijk,et al. Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition. , 1994 .