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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.397-413

1999

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Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

American journal of human genetics, 1999-08, Vol.65 (2), p.370-386

1999

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Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition

Breast cancer research and treatment, 2018-04, Vol.168 (2), p.311-325

2018

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Survival outcome differences based on treatments used and knowledge of the primary tumour site for patients with cancer of unknown and known primary in Ontario

Current oncology (Toronto), 2018-10, Vol.25 (5), p.307-316

2018

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Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

Mutation research, 1998-11, Vol.411 (3), p.179-214

1998

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Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (15), p.7811-7815

1996

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Sequence-based design of single-copy genomic DNA probes for fluorescence in situ hybridization

Genome research, 2001-06, Vol.11 (6), p.1086

2001

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Predicting severity of haemophilia A and B splicing mutations by information analysis

Haemophilia : the official journal of the World Federation of Hemophilia, 2006-05, Vol.12 (3), p.258-262

2006

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Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

Journal of medical genetics, 1999-08, Vol.36 (8), p.633-636

1999

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Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene

American journal of human genetics, 2000-02, Vol.66 (2), p.356-367

2000

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The Frequency of Uniparental Disomy in Prader-Willi Syndrome: Implications for Molecular Diagnosis

The New England journal of medicine, 1992-06, Vol.326 (24), p.1599-1607

1992

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Relating Centromeric Topography in Fixed Human Chromosomes to α-Satellite DNA and CENP-B Distribution

Cytogenetic and genome research, 2013-01, Vol.139 (4), p.234-242

2013

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Relating Centromeric Topography in Fixed Human Chromosomes to [alpha]-Satellite DNA and CENP-B Distribution

Cytogenetic and genome research, 2013-05, Vol.139 (4), p.234-242

2013

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Splice-site mutations in atherosclerosis candidate genes: Relating individual information to phenotype

Circulation (New York, N.Y.), 1999-08, Vol.100 (7), p.693-699

1999

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Transmission of mitochondrial DNA heteroplasmy in normal pedigrees

Human genetics, 1998-02, Vol.102 (2), p.182-186

1998

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Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

American journal of medical genetics, 1995-12, Vol.60 (6), p.573-579

1995

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Allele-specific replication of 15q11-q13 loci : A diagnostic test for detection of uniparental disomy

American journal of human genetics, 1996-08, Vol.59 (2), p.423-430

1996

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Information analysis of human splice site mutations

Human mutation, 1998, Vol.12 (3), p.153-171

1998

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Relaxation of imprinting in Prader-Willi syndrome

Human genetics, 1998-12, Vol.103 (6), p.694-701

1998

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Human SP-A: genotype and single-strand conformation polymorphism analysis

American journal of physiology. Lung cellular and molecular physiology, 1994-05, Vol.266 (5), p.519-L527

1994

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Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

Molecular vision, 1998-10, Vol.4, p.21-21

1998

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A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

Human molecular genetics, 1994-06, Vol.3 (6), p.1025-1026

1994

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Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome

The American journal of cardiology, 1996-05, Vol.77 (11), p.1023-1026

1996

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Splice variants but not mutations of DNA polymerase β are common in bladder cancer

Cancer research (Chicago, Ill.), 2002-06, Vol.62 (11), p.3251-3256

2002

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Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)

Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.337-341

1995

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition

Survival outcome differences based on treatments used and knowledge of the primary tumour site for patients with cancer of unknown and known primary in Ontario

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Sequence-based design of single-copy genomic DNA probes for fluorescence in situ hybridization

Predicting severity of haemophilia A and B splicing mutations by information analysis

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene

The Frequency of Uniparental Disomy in Prader-Willi Syndrome: Implications for Molecular Diagnosis

Relating Centromeric Topography in Fixed Human Chromosomes to α-Satellite DNA and CENP-B Distribution

Relating Centromeric Topography in Fixed Human Chromosomes to [alpha]-Satellite DNA and CENP-B Distribution

Splice-site mutations in atherosclerosis candidate genes: Relating individual information to phenotype

Transmission of mitochondrial DNA heteroplasmy in normal pedigrees

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

Allele-specific replication of 15q11-q13 loci : A diagnostic test for detection of uniparental disomy

Information analysis of human splice site mutations

Relaxation of imprinting in Prader-Willi syndrome

Human SP-A: genotype and single-strand conformation polymorphism analysis

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome

Splice variants but not mutations of DNA polymerase β are common in bladder cancer

Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)

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