ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
暂无分享,去创建一个
T. Honzík | P. Lišková | H. Hansíková | N. Ondrušková | A. Čechová | B. Kousal | J. Zídková | Martina Farolfi | Jana Zídková
[1] J. Rosenfeld,et al. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG , 2021, Journal of inherited metabolic disease.
[2] E. Morava,et al. Fetal glycosylation defect due to ALG3 and GOG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. , 2020, Molecular genetics and metabolism.
[3] C. Qiao,et al. ALG3-CDG: lethal phenotype and novel variants in Chinese siblings , 2020, Journal of Human Genetics.
[4] R. Horvath,et al. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG , 2020, Brain and Development.
[5] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[6] A. Ziegler,et al. Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus , 2019, Human mutation.
[7] Gregory M. Cooper,et al. CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..
[8] F. Alkuraya,et al. Congenital disorders of glycosylation: The Saudi experience , 2017, American journal of medical genetics. Part A.
[9] K. Stehlikova,et al. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic , 2017, Clinical genetics.
[10] Gill Bejerano,et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity , 2016, Nature Genetics.
[11] C. Barba,et al. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy , 2016, Developmental medicine and child neurology.
[12] G. Matthijs,et al. ALG3‐CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation , 2015, American journal of medical genetics. Part A.
[13] H. Rehm,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[14] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[15] G. Matthijs,et al. ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. , 2013, Molecular genetics and metabolism.
[16] T. Hennet. Diseases of glycosylation beyond classical congenital disorders of glycosylation. , 2012, Biochimica et biophysica acta.
[17] Jing Hu,et al. SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..
[18] Machiko Kadoya,et al. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I , 2011, Journal of Inherited Metabolic Disease.
[19] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[20] A. Superti-Furga,et al. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient , 2008, Journal of Inherited Metabolic Disease.
[21] H. Freeze,et al. CDG‐Id in two siblings with partially different phenotypes , 2007, American journal of medical genetics. Part A.
[22] J. Denecke,et al. Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins , 2005, Pediatric Research.
[23] W. Chung,et al. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. , 2005, The Journal of clinical endocrinology and metabolism.
[24] G. Matthijs,et al. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). , 2005, European journal of medical genetics.
[25] J. Denecke,et al. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense‐mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG‐Id) , 2004, Human mutation.
[26] U. Stephani,et al. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl‐P‐Man:Man5 GlcNAc2‐PP‐dolichyl mannosyltransferase , 1999, The EMBO journal.
[27] P. Striano,et al. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). , 2016, JIMD reports.
[28] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..