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The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

Human molecular genetics, 1998-11, Vol.7 (12), p.1947-1952

1998

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Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

Human molecular genetics, 1997-05, Vol.6 (5), p.727-737

1997

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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Human molecular genetics, 1995-11, Vol.4 (11), p.2175-2177

1995

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Cell, 1994-07, Vol.78 (2), p.335-342

1994

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Assessing quality of life for adolescents in Taiwan

Psychiatry and clinical neurosciences, 2005-02, Vol.59 (1), p.11-18

2005

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature genetics, 1995-03, Vol.9 (3), p.321-328

1995

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GLRB is the third major gene of effect in hyperekplexia

Human molecular genetics, 2013-06, Vol.22 (12), p.2552-2552

2013

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Cell, 1993-03, Vol.72 (6), p.971-983

1993

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Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression

DNA and cell biology, 2008-11, Vol.27 (11), p.589-600

2008

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Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Nature genetics, 1993-12, Vol.5 (4), p.351-358

1993

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Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Clinical neurology and neurosurgery, 1997-08, Vol.99 (3), p.172-178

1997

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Process Chemistry Related to the Experimental Rice Herbicide 2,2-Dimethyl-1-(4-methylthio-5-pyrimidinyl)indane

Organic process research & development, 2000-07, Vol.4 (4), p.275-285

2000

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Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

Journal of medical genetics, 1989-11, Vol.26 (11), p.676-681

1989

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Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

Biochemical and biophysical research communications, 2004-12, Vol.325 (1), p.124-132

2004

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A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Nature genetics, 1994-06, Vol.7 (2), p.131-135

1994

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Mutational analysis of familial and sporadic hyperekplexia

Annals of neurology, 1995-07, Vol.38 (1), p.85-91

1995

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The CEPH Consortium Linkage Map of Human Chromosome 13

Genomics (San Diego, Calif.), 1993-05, Vol.16 (2), p.486-496

1993

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Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines

The Cleft palate-craniofacial journal, 1997-01, Vol.34 (1), p.1-6

1997

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Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

Mammalian genome, 2006-02, Vol.17 (2), p.168-177

2006

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A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p

Genome research, 1997-08, Vol.7 (8), p.787-801

1997

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Synthesis of an allene-containing germacranoid

Tetrahedron letters, 1992-05, Vol.33 (21), p.2941-2944

1992

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Molecular genetic reevaluation of the Dutch hyperekplexia family

Archives of neurology (Chicago), 1995-06, Vol.52 (6), p.578-582

1995

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Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5

Cytogenetic and genome research, 1994-01, Vol.67 (2), p.69-74

1994

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A TaqI RFLP identified at the retinoblastoma locus on chromosome 13

Nucleic acids research, 1988-09, Vol.16 (18), p.9069-9069

1988

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Chromosomal localization of the human gene for annexin V (placental anticoagulant protein I) to 4q26----q28

Cytogenetic and genome research, 1991-01, Vol.57 (4), p.187-192

1991

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The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Assessing quality of life for adolescents in Taiwan

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

GLRB is the third major gene of effect in hyperekplexia

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression

Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Process Chemistry Related to the Experimental Rice Herbicide 2,2-Dimethyl-1-(4-methylthio-5-pyrimidinyl)indane

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Mutational analysis of familial and sporadic hyperekplexia

The CEPH Consortium Linkage Map of Human Chromosome 13

Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p

Synthesis of an allene-containing germacranoid

Molecular genetic reevaluation of the Dutch hyperekplexia family

Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5

A TaqI RFLP identified at the retinoblastoma locus on chromosome 13

Chromosomal localization of the human gene for annexin V (placental anticoagulant protein I) to 4q26----q28

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