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T-Box Genes in Human Development and Disease

Current topics in developmental biology, 2017-01, Vol.122, p.383

2017

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Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

Human molecular genetics, 2001-09, Vol.10 (18), p.1983-1994

2001

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Exon Amplification: A Strategy to Isolate Mammalian Genes Based on RNA Splicing

Proceedings of the National Academy of Sciences - PNAS, 1991-05, Vol.88 (9), p.4005-4009

1991

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Targeted integration of adeno‐associated virus (AAV) into human chromosome 19

The EMBO journal, 1991-12, Vol.10 (12), p.3941-3950

1991

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Myotonic Dystrophy Is Associated with a Reduced Level of RNA from the DMWD Allele Adjacent to the Expanded Repeat

Human molecular genetics, 1999-08, Vol.8 (8), p.1491-1497

1999

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

American journal of human genetics, 1993-06, Vol.52 (6), p.1164-1174

1993

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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

American journal of human genetics, 1995-11, Vol.57 (5), p.1028-1036

1995

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Unstable DNA sequence in myotonic dystrophy

The Lancet (British edition), 1992-05, Vol.339 (8802), p.1125-1128

1992

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Loss of heterozygosity in bilateral breast cancer

Breast cancer research and treatment, 2000-12, Vol.64 (3), p.241-251

2000

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Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

Journal of medical genetics, 1999-01, Vol.36 (1), p.59-61

1999

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In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Nucleic acids research, 2001-07, Vol.29 (13), p.2766

2001

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Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Nature genetics, 1997, Vol.15 (1), p.21-29

1997

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High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers

Cancer research (Chicago, Ill.), 1996-12, Vol.56 (23), p.5484-5489

1996

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

Nature (London), 1994-12, Vol.372 (6506), p.525-530

1994

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Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Genomics (San Diego, Calif.), 2000-07, Vol.67 (1), p.92-95

2000

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Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

Genomics (San Diego, Calif.), 1999, Vol.55 (1), p.10-20

1999

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Myotonic dystrophy, knockouts, warts and all

Trends in genetics, 1996-09, Vol.12 (9), p.332-334

1996

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A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

Genomics (San Diego, Calif.), 2000-02, Vol.63 (3), p.425-429

2000

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Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

American journal of human genetics, 1991-07, Vol.49 (1), p.68-75

1991

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A study of DNA methylation in myotonic dystrophy

Journal of medical genetics, 1993-03, Vol.30 (3), p.189-192

1993

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The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.237-239

1993

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Transcriptional Abnormality in Myotonic Dystrophy Affects DMPK but not Neighboring Genes

Proceedings of the National Academy of Sciences - PNAS, 1997-07, Vol.94 (14), p.7394-7399

1997

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T-Box Genes in Human Development and Disease

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

Exon Amplification: A Strategy to Isolate Mammalian Genes Based on RNA Splicing

Targeted integration of adeno‐associated virus (AAV) into human chromosome 19

Myotonic Dystrophy Is Associated with a Reduced Level of RNA from the DMWD Allele Adjacent to the Expanded Repeat

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

Unstable DNA sequence in myotonic dystrophy

Loss of heterozygosity in bilateral breast cancer

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

Myotonic dystrophy, knockouts, warts and all

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

A study of DNA methylation in myotonic dystrophy

The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Transcriptional Abnormality in Myotonic Dystrophy Affects DMPK but not Neighboring Genes

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