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CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Saiqa Yasmeen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Intronic splicing mutations in PTCH1 cause Gorlin syndrome
Zaynab Bholah et al.
FAMILIAL CANCER (2014)
An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?
Elisabeth Gillis et al.
HUMAN MUTATION (2014)
Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene
Martin de Boer et al.
HUMAN MUTATION (2014)
When a mid-intronic variation of DMD gene creates an ESE site
Madiha Trabelsi et al.
NEUROMUSCULAR DISORDERS (2014)
A comprehensive survey of non-canonical splice sites in the human transcriptome
Guillermo E. Parada et al.
NUCLEIC ACIDS RESEARCH (2014)
RBPmap: a web server for mapping binding sites of RNA-binding proteins
Inbal Paz et al.
NUCLEIC ACIDS RESEARCH (2014)
De Novo Prediction of PTBP1 Binding and Splicing Targets Reveals Unexpected Features of Its RNA Recognition and Function
Areum Han et al.
PLOS COMPUTATIONAL BIOLOGY (2014)
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
Janice A. Dominov et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2014)
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Sarah E. Flanagan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts
Faer S. Morrison et al.
BMC GENOMICS (2013)
Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria
Sharon D. Whatley et al.
CLINICAL CHEMISTRY (2013)
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
P. Kannu et al.
CLINICAL GENETICS (2013)
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
Simona Cavalieri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2
Elisabeth Castellanos et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome
Anne Schneider et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A
H. Inaba et al.
HAEMOPHILIA (2013)
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Terry A. Braun et al.
HUMAN MOLECULAR GENETICS (2013)
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Audrey Sabbagh et al.
HUMAN MUTATION (2013)
Cloning of a novel insulin-regulated ghrelin transcript in prostate cancer
Inge Seim et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2013)
Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA
B. Pezeshkpoor et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2013)
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
Laura M. McDonell et al.
NATURE GENETICS (2013)
Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
Jonas Juan-Mateu et al.
PLOS ONE (2013)
The significant other: splicing by the minor spliceosome
Janne J. Turunen et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes
Jun-ya Kaimori et al.
CEN CASE REPORTS (2013)
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Nuria Garcia Segarra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers
Rusdy Ghazali Malueka et al.
BMC GENETICS (2012)
BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy
Olga Anczukow et al.
CLINICAL CANCER RESEARCH (2012)
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations
N. A. Akawi et al.
CLINICAL GENETICS (2012)
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
Aliya Ishmukhametova et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas
Jenny Welander et al.
HUMAN MOLECULAR GENETICS (2012)
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb et al.
HUMAN MOLECULAR GENETICS (2012)
Functional Characterization and Targeted Correction of ATM Mutations Identified in Japanese Patients with Ataxia-Telangiectasia
Kotoka Nakamura et al.
HUMAN MUTATION (2012)
SpliceAid 2: A Database of Human Splicing Factors Expression Data and RNA Target Motifs
Francesco Piva et al.
HUMAN MUTATION (2012)
Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
Christel Vache et al.
HUMAN MUTATION (2012)
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis
Isabel Spier et al.
HUMAN MUTATION (2012)
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome
Heleen M. van der Klift et al.
HUMAN MUTATION (2012)
A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib
Nicolas Richard et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
Yen-Hui Chiu et al.
JOURNAL OF HUMAN GENETICS (2012)
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez et al.
JOURNAL OF MEDICAL GENETICS (2012)
The Genomic Signature of Splicing-Coupled Selection Differs between Long and Short Introns
Ashley Farlow et al.
MOLECULAR BIOLOGY AND EVOLUTION (2012)
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1
Mathieu Milh et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia
Nithiwat Vatanavicharn et al.
MOLECULAR GENETICS AND METABOLISM (2012)
An intronic ABCA3 mutation that is responsible for respiratory disease
Amit Agrawal et al.
PEDIATRIC RESEARCH (2012)
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions
Shinsuke Ishigaki et al.
SCIENTIFIC REPORTS (2012)
RHOA Is a Modulator of the Cholesterol-Lowering Effects of Statin
Marisa W. Medina et al.
PLOS GENETICS (2012)
The Function of Introns
Michal Chorev et al.
Frontiers in Genetics (2012)
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
Francesca Magri et al.
BMC MEDICAL GENETICS (2011)
Recurrent Deep lntronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome
Yi-Fen Lo et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
Mutation deep within an intron of MSH2 causes Lynch syndrome
Mark Clendenning et al.
FAMILIAL CANCER (2011)
Quantitative evaluation of all hexamers as exonic splicing elements
Shengdong Ke et al.
GENOME RESEARCH (2011)
Pure Intronic Rearrangements Leading to Aberrant Pseudoexon Inclusion in Dystrophinopathy: A New Class of Mutations?
Mouna Messaoud Khelifi et al.
HUMAN MUTATION (2011)
A Mild Neurofibromatosis Type 1 Phenotype Produced by the Combination of the Benign Nature of a Leaky NF1-Splice Mutation and the Presence of a Complex Mosaicism
Juana Fernandez-Rodriguez et al.
HUMAN MUTATION (2011)
Pseudoexon Exclusion by Antisense Therapy in 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Sandra Brasil et al.
HUMAN MUTATION (2011)
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
Maria Carmen Valero et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Deep intronic variations may cause mild hemophilia A
G. Castaman et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2011)
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma
E. Castoldi et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2011)
Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4
Berivan Baskin et al.
NEUROMUSCULAR DISORDERS (2011)
Compensatory signals associated with the activation of human GC 5' splice sites
Jana Kralovicova et al.
NUCLEIC ACIDS RESEARCH (2011)
HPRT DEFICIENCY: IDENTIFICATION OF TWENTY-FOUR NOVEL VARIANTS INCLUDING AN UNUSUAL DEEP INTRONIC MUTATION
A. Corrigan et al.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS (2011)
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Katharina Wimmer et al.
PLOS GENETICS (2011)
Aberrant splicing of the milk fat globule-EGF factor 8 (MFG-E8) gene in human systemic lupus erythematosus
Hiroshi Yamaguchi et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2010)
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies
Ashish Dhir et al.
FEBS JOURNAL (2010)
Antisense Modulation of Both Exonic and Intronic Splicing Motifs Induces Skipping of a DMD Pseudo-Exon Responsible for X-Linked Dilated Cardiomyopathy
Paola Rimessi et al.
HUMAN GENE THERAPY (2010)
Transposable elements in disease-associated cryptic exons
Igor Vorechovsky
HUMAN GENETICS (2010)
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
Katrin Friedrich et al.
HUMAN GENETICS (2010)
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity
Andre B. P. van Kuilenburg et al.
HUMAN GENETICS (2010)
The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria
Katerina Homolova et al.
HUMAN MUTATION (2010)
Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome
V. Laugel et al.
HUMAN MUTATION (2010)
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients
Lucy Costantino et al.
JOURNAL OF CYSTIC FIBROSIS (2010)
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
Yasuhiro Takeshima et al.
JOURNAL OF HUMAN GENETICS (2010)
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
Bung Chan Lim et al.
NEUROMUSCULAR DISORDERS (2010)
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
Valerie Tosch et al.
NEUROMUSCULAR DISORDERS (2010)
Characteristics of Transposable Element Exonization within Human and Mouse
Noa Sela et al.
PLOS ONE (2010)
Genome-Wide Association between Branch Point Properties and Alternative Splicing
Andre Corvelo et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
A Case of Brooke-Spiegler Syndrome With a Novel Germline Deep Intronic Mutation in the CYLD Gene Leading to Intronic Exonization, Diverse Somatic Mutations, and Unusual Histology
Dmitry V. Kazakov et al.
AMERICAN JOURNAL OF DERMATOPATHOLOGY (2009)
A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS
Paul N. Valdmanis et al.
ANNALS OF HUMAN GENETICS (2009)
Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy
Gittan Kollberg et al.
BRAIN (2009)
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease
L. Michel-Calemard et al.
CLINICAL GENETICS (2009)
Antisense Therapeutics for Neurofibromatosis Type 1 Caused by Deep Intronic Mutations
Eva Pros et al.
HUMAN MUTATION (2009)
A Deep Intronic Mutation in FGB Creates a Consensus Exonic Splicing Enhancer Motif That Results in Afibrinogenemia Caused by Aberrant mRNA Splicing, Which Can Be Corrected In Vitro With Antisense Oligonucleotide Treatment
Ryan L. Davis et al.
HUMAN MUTATION (2009)
Pseudoexon Exclusion by Antisense Therapy in Methylmalonic Aciduria (MMAuria)
B. Perez et al.
HUMAN MUTATION (2009)
Antisense Oligonucleotide Treatment for a Pseudoexon-Generating Mutation in the NPC1 Gene Causing Niemann-Pick Type C
Laura Rodriguez-Pascau et al.
HUMAN MUTATION (2009)
Characterization of a Complex Duchenne Muscular Dystrophy-Causing Dystrophin Gene Inversion and Restoration of the Reading Frame by Induced Exon Skipping
Heidi R. Madden et al.
HUMAN MUTATION (2009)
Disease-Causing Mutations Improving the Branch Site and Polypyrimidine Tract: Pseudoexon Activation of LINE-2 and Antisense Alu Lacking the Poly(T)-Tail
David Meili et al.
HUMAN MUTATION (2009)
A Single-Base Substitution within an Intronic Repetitive Element Causes Dominant Retinitis Pigmentosa with Reduced Penetrance
Thomas Rio Frio et al.
HUMAN MUTATION (2009)
A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
Vera M. Kalscheuer et al.
HUMAN MUTATION (2009)
Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
Valeria Faa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Cryptic Exon Activation by Disruption of Exon Splice Enhancer NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY
Martin Stucki et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 ' exons of TACSTD1
Marjolijn J. L. Ligtenberg et al.
NATURE GENETICS (2009)
A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome
Kandai Nozu et al.
PEDIATRIC RESEARCH (2009)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
Fanny Mochel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
DMD pseudoexon mutations: Splicing efficiency, phenotype, and potential therapy
Olga L. Gurvich et al.
ANNALS OF NEUROLOGY (2008)
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
Matteo Bovolenta et al.
BMC GENOMICS (2008)
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
Nele Hilgert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
Camilla Filoni et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
Alessandra Santoro et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Angelica Olsson et al.
HUMAN MOLECULAR GENETICS (2008)
Nature and mRNA Effect of 282 Different NF1 Point Mutations: Focus on Splicing Alterations
Eva Pros et al.
HUMAN MUTATION (2008)
Patterns of missplicling caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
Katherine Zhang et al.
HUMAN MUTATION (2008)
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease
Dong-chuan Guo et al.
JOURNAL OF HUMAN GENETICS (2008)
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
S. Keeratichamroen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
Katharina Engel et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency
Jamiyan Purevsuren et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Characterization of novel CAPN3 isoforms in white blood cells:: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
L. Blazquez et al.
NEUROGENETICS (2008)
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism
Nina Kossack et al.
PLOS MEDICINE (2008)
Propionic and methylmalonic acidemia:: Antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
A. Rincon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Detection of novel NF1 mutations and rapid mutation prescreenig with Pyrosequencing
Anja Brinckmann et al.
ELECTROPHORESIS (2007)
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen γ-chain gene as a novel mechanism for congenital afibrinogenaemia
Silvia Spena et al.
BRITISH JOURNAL OF HAEMATOLOGY (2007)
Global control of aberrant splice-site activation by auxiliary splicing sequences:: evidence for a gradient in exon and intron definition
Jana Kralovicova et al.
NUCLEIC ACIDS RESEARCH (2007)
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome
Sophie Lebon et al.
MOLECULAR GENETICS AND METABOLISM (2007)
HnRNP I/PTB can antagonize the splicing repressor activity of SRp30c
Caroline Paradis et al.
RNA (2007)
Identification and characterization of a novel RPGR isoform in human retina
John Neidhardt et al.
HUMAN MUTATION (2007)
BCG-osis and tuberculosis in a child with chronic granulomatous disease
Jacinta Bustamante et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation
Catherine Dehainault et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
Michael Krawczak et al.
HUMAN MUTATION (2007)
Protein, and mRNABased phenotype-genotype correlations in DMD/DMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
Nathalie Deburgrave et al.
HUMAN MUTATION (2007)
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
Els Schollen et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons
Zhujun Zhang et al.
JOURNAL OF HUMAN GENETICS (2007)
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations
S. Alves et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome
Morgane Stum et al.
HUMAN MUTATION (2006)
Mutational spectrum in the recent human genome inferred by single nucleotide polymorphisms
Cizhong Jiang et al.
GENOMICS (2006)
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
Roy Morello et al.
CELL (2006)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
Susanna Lualdi et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
F Vetrini et al.
HUMAN MUTATION (2006)
Intronic alterations in BRCA1 and BRCA2:: Effect on mRNA splicing fidelity and expression
XW Chen et al.
HUMAN MUTATION (2006)
A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)
A Rump et al.
GENE (2006)
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene
F Gualandi et al.
GENE (2006)
An intronic mutation within FGB (IVS1+2076 a→g) is associated with afibrinogenemia and recurrent transient ischemic attacks
A Dear et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2006)
A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones
C Gooding et al.
GENOME BIOLOGY (2006)
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies
S Tuffery-Giraud et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene
VK Tran et al.
JOURNAL OF HUMAN GENETICS (2005)
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
M Levitus et al.
NATURE GENETICS (2005)
Preimplantation genetic diagnosis for neurofibromatosis type 1
C Spits et al.
MOLECULAR HUMAN REPRODUCTION (2005)
Genetic analysis of three genes causing isolated methylmalonic acidemia:: identification of 21 novel allelic variants
MA Martínez et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
WI Lee et al.
BLOOD (2005)
Functional significance of deep intronic mutation in the ATM gene and evidence for an alternative Exon 28a
G Coutinho et al.
HUMAN MUTATION (2005)
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites
ML Hastings et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2005)
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation hornozygosity
IJ Sutton et al.
ANNALS OF NEUROLOGY (2004)
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
DR Sjarif et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype
R Cagliani et al.
HUMAN GENETICS (2004)
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
U Schwarze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
R Varon et al.
NATURE GENETICS (2003)
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
S Tuffery-Giraud et al.
HUMAN MUTATION (2003)
HnRNP G and Tra2β:: opposite effects on splicing matched by antagonism in RNA binding
MT Nasim et al.
HUMAN MOLECULAR GENETICS (2003)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -: art. no. e82
E Ars et al.
JOURNAL OF MEDICAL GENETICS (2003)
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
N Monnier et al.
HUMAN MOLECULAR GENETICS (2003)
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)
C Attanasio et al.
BLOOD (2003)
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
K Ishigaki et al.
NEUROMUSCULAR DISORDERS (2003)
Diagnostics in Patients With Glutathione Synthetase Deficiency but Without Mutations in the Exons of the GSS Gene
Runa Njalsson et al.
HUMAN MUTATION (2003)
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome
K King et al.
HUMAN GENETICS (2002)
Molecular mechanisms of autosomal recessive hypercholesterolemia
KR Wilund et al.
HUMAN MOLECULAR GENETICS (2002)
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-α1(V) N-propeptides and Ehlers-Danlos syndrome type I
K Takahara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The human genome browser at UCSC
WJ Kent et al.
GENOME RESEARCH (2002)
A new type of mutation causes a splicing defect in ATM
F Pagani et al.
NATURE GENETICS (2002)
Alternative splicing in the α-galactosidase A gene:: Increased exon inclusion results in the Fabry cardiac phenotype
S Ishii et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Partial deletion in the JK locus causing a Jknull phenotype
N Lucien et al.
BLOOD (2002)
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
R Suminaga et al.
JOURNAL OF HUMAN GENETICS (2002)
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M Huizing et al.
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