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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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A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

American journal of human genetics, 2007-10, Vol.81 (4), p.673-683

2007

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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 ANKH Cause Chondrocalcinosis

American journal of human genetics, 2002-10, Vol.71 (4), p.933-940

2002

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

American journal of human genetics, 2001-06, Vol.68 (6), p.1321-1326

2001

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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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Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

American journal of human genetics, 1993-10, Vol.53 (4), p.836-843

1993

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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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Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

American journal of human genetics, 1992-12, Vol.51 (6), p.1334-1343

1992

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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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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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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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Pairwise linkage analysis of 11 loci on human chromosome 4

American journal of human genetics, 1988-03, Vol.42 (3), p.490-497

1988

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

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

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 ANKH Cause Chondrocalcinosis

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

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

Assessing quality of life for adolescents in Taiwan

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

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

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

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

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

Molecular genetic reevaluation of the Dutch hyperekplexia family

Pairwise linkage analysis of 11 loci on human chromosome 4

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