(Q28284385)

Brage Storstein Andresen

14

0 references

Robert D. Steiner

Robert D Steiner

7

0 references

Adrian Robert Krainer

5

Adrian R Krainer

0 references

Ronald J A Wanders

11

Ronald J A Wanders

0 references

author name string

Pia Pinholt Madsen

1

0 references

Maria Kibaek

2

0 references

Ravi Sachidanandam

4

0 references

Ernst Christensen

6

0 references

K Michael Gibson

8

0 references

Thomas J Corydon

9

0 references

Inga Knudsen

10

0 references

Jos P N Ruiter

12

0 references

Niels Gregersen

https://scigraph.springernature.com/pub.10.1007/s00439-005-0070-4

13

0 references

language of work or name

English

0 references

publication date

February 2006

0 references

published in

Human Genetics

0 references

volume

118

0 references

page(s)

680-90

0 references

issue

6

0 references

exact match

0 references

cites work

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0070-4

Are snRNPs involved in splicing?

21 January 2018

1 reference

12 December 2020

Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.

1 reference

12 December 2020

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

1 reference

12 December 2020

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

12 December 2020

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...]

1 reference

12 December 2020

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

1 reference

12 December 2020

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

1 reference

12 December 2020

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

1 reference

12 December 2020

A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

12 December 2020

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

1 reference

12 December 2020

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

1 reference

12 December 2020

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

12 December 2020

Molecular diagnosis of bilateral coronal synostosis

1 reference

12 December 2020

Nonsense-mediated mRNA decay in health and disease

1 reference

12 December 2020

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1 reference

12 December 2020

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

12 December 2020

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene

1 reference

12 December 2020

Temperature-dependent splicing of beta-globin pre-mRNA.

1 reference

12 December 2020

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

1 reference

12 December 2020

Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure

1 reference

12 December 2020

Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)

1 reference

12 December 2020

Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

1 reference

12 December 2020

RNA surveillance by nuclear scanning?

1 reference

12 December 2020

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome

1 reference

12 December 2020

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

1 reference

12 December 2020

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

1 reference

12 December 2020

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

1 reference

12 December 2020

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

1 reference

12 December 2020

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

12 December 2020

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

1 reference

12 December 2020

Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH

1 reference

12 December 2020

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

1 reference

12 December 2020

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Analysis of canonical and non-canonical splice sites in mammalian genomes

1 reference

12 December 2020

Finding signals that regulate alternative splicing in the post-genomic era

1 reference

12 December 2020

Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia

1 reference

12 December 2020

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

12 December 2020

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

1 reference

12 December 2020

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

12 December 2020

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

1 reference

12 December 2020

Determinants of the inherent strength of human 5' splice sites

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

Pseudouridine residues in the 5′-terminus of uridine-rich nuclear RNA I (U1 RNA)

1 reference

12 December 2020

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

12 December 2020

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome

1 reference

12 December 2020

A mechanism for RNA splicing

1 reference

12 December 2020

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

1 reference

12 December 2020

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

1 reference

12 December 2020

Jagged-1 mutation analysis in Italian Alagille syndrome patients

1 reference

12 December 2020

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

12 December 2020

Hematologically important mutations: red cell pyruvate kinase (2nd update).

1 reference

12 December 2020

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

1 reference

12 December 2020

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

1 reference

12 December 2020

Branch site haplotypes that control alternative splicing

1 reference

12 December 2020

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

1 reference

12 December 2020

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

1 reference

12 December 2020

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

12 December 2020

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

1 reference

12 December 2020

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

12 December 2020

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

12 December 2020