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A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Genome Research, 2008-08, Vol.18 (8), p.1247-1258

2008

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Nature genetics, 2001-11, Vol.29 (3), p.321-325

2001

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.357-360

1996

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature genetics, 1999-06, Vol.22 (2), p.159-163

1999

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Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency

The Journal of biological chemistry, 2007-08, Vol.282 (34), p.25041-25052

2007

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A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.39-45

2004

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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Journal of human genetics, 2005-07, Vol.50 (7), p.338-346

2005

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The cystic fibrosis gene: a molecular genetic perspective

Cold Spring Harbor perspectives in medicine, 2013-02, Vol.3 (2), p.a009472-a009472

2013

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Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

Development (Cambridge), 1997-01, Vol.124 (1), p.113-123

1997

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Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials

American journal of respiratory and critical care medicine, 2006-10, Vol.174 (7), p.787-794

2006

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Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

Nature genetics, 1996-03, Vol.12 (3), p.280-287

1996

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Complex two-gene modulation of lung disease severity in children with cystic fibrosis

The Journal of clinical investigation, 2008-03, Vol.118 (3), p.1040-1049

2008

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High-Resolution Mapping of Mammalian Genes by In situ Hybridization to Free Chromatin

Proceedings of the National Academy of Sciences - PNAS, 1992-10, Vol.89 (20), p.9509-9513

1992

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Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

The Journal of biological chemistry, 1993-08, Vol.268 (23), p.17478-17488

1993

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Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability

Molecular and Cellular Biology, 2000-06, Vol.20 (12), p.4420-4427

2000

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Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

Molecular and Cellular Biology, 2004-01, Vol.24 (2), p.527-536

2004

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A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11

Gene, 1993-12, Vol.136 (1), p.355-360

1993

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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

Human molecular genetics, 2002-08, Vol.11 (17), p.1987-1995

2002

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Molecular Characterization of a Common Fragile Site (FRA7H) on Human Chromosome 7 by the Cloning of a Simian Virus 40 Integration Site

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (14), p.8141-8146

1998

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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

Human molecular genetics, 2003-08, Vol.12 (16), p.2031-2040

2003

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Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

JAMA : the journal of the American Medical Association, 1999-06, Vol.281 (23), p.2217

1999

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Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Journal of hepatology, 2006-05, Vol.44 (5), p.930-938

2006

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Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis

Human genetics, 2003-08, Vol.113 (3), p.286-292

2003

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Modes of DAPI banding and simultaneous in situ hybridization

Chromosoma, 1993-05, Vol.102 (5), p.325-332

1993

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

Genome biology, 2003-01, Vol.4 (4), p.R25-R25, Article R25

2003

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A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

The cystic fibrosis gene: a molecular genetic perspective

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

Complex two-gene modulation of lung disease severity in children with cystic fibrosis

High-Resolution Mapping of Mammalian Genes by In situ Hybridization to Free Chromatin

Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability

Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

Molecular Characterization of a Common Fragile Site (FRA7H) on Human Chromosome 7 by the Cloning of a Simian Virus 40 Integration Site

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis

Modes of DAPI banding and simultaneous in situ hybridization

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

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