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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Journal of medical genetics, 2010-01, Vol.47 (1), p.30-37

2010

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A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome

Clinical genetics, 2003-07, Vol.64 (1), p.79-82

2003

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Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2

The Journal of biological chemistry, 1994-05, Vol.269 (18), p.13092-13099

1994

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Human genetics, 2003-12, Vol.114 (1), p.68-76

2003

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Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

Clinical genetics, 1998-02, Vol.53 (2), p.79-86

Jabs, Ethylin Wang

1998

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Phenotypic variability in 49 cases of ESC02 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Journal of medical genetics, 2010, Vol.47 (1), p.30-37

2010

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Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24

Cytogenetic and genome research, 1994-01, Vol.67 (3), p.178-186

1994

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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

Nature genetics, 1996-08, Vol.13 (4), p.492-494

1996

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A NHE3-related pseudogene is on human Chromosome 10; the functional gene maps to 5pl5.3

Mammalian genome, 1996-03, Vol.7 (3), p.235-236

1996

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Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

Nature genetics, 1995-03, Vol.9 (3), p.232-233

1995

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Human SLUG gene organization, expression, and chromosome map location on 8q

Genomics (San Diego, Calif.), 1998-08, Vol.51 (3), p.468-471

1998

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Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A

The Journal of biological chemistry, 1993-03, Vol.268 (9), p.6131-6138

1993

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Human and Mouse Chromosomal Mapping of the Myeloid Cell Leukemia-1 Gene: MCL1 Maps to Human Chromosome 1q21, a Region That Is Frequently Altered in Preneoplastic and Neoplastic Disease

Genomics (San Diego, Calif.), 1994-09, Vol.23 (2), p.457-463

1994

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Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3

Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.193-198

1991

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A YAC Contig of Approximately 3 Mb from Human Chromosome 5q31 → q33

Genomics (San Diego, Calif.), 1994-02, Vol.19 (3), p.470-477

1994

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Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 → q22

Genomics (San Diego, Calif.), 1992-10, Vol.14 (2), p.220-224

1992

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Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences

American journal of human genetics, 1987-09, Vol.41 (3), p.374-390

1987

Volltextzugriff (PDF)

Two Craniosynostotic Syndrome Loci, Crouzon and Jackson-Weiss, Map to Chromosome 10q23-q26

Genomics (San Diego, Calif.), 1994-07, Vol.22 (2), p.418-424

1994

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Chromosomal localization of genes required for the terminal steps of oxidative metabolism : α and γ subunits of ATP synthase and the phosphate carrier

Human genetics, 1994-05, Vol.93 (5), p.600-602

1994

Volltextzugriff (PDF)

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

Human genetics, 1988-03, Vol.78 (3), p.267-270

1988

Volltextzugriff (PDF)

A centromere-based genetic map of the short arm of human chromosome 6

Genomics (San Diego, Calif.), 1991-03, Vol.9 (3), p.420-428

1991

Volltextzugriff (PDF)

Roberts/pseudothalidomide syndrome and normal intelligence : approaches to diagnosis and management

Developmental medicine and child neurology, 1992-06, Vol.34 (6), p.534-539

1992

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Prenatal identification of small mosaic markers of different chromosomal origins

Prenatal diagnosis, 1992-02, Vol.12 (2), p.83-91

1992

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The IPP Gene Is Assigned to Human Chromosome 1p32-1p22

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.239-241

1993

Volltextzugriff (PDF)

A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3

Mammalian genome, 1996-03, Vol.7 (3), p.235-236

1996

Volltextzugriff (PDF)

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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome

Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

Phenotypic variability in 49 cases of ESC02 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

A NHE3-related pseudogene is on human Chromosome 10; the functional gene maps to 5pl5.3

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

Human SLUG gene organization, expression, and chromosome map location on 8q

Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A

Human and Mouse Chromosomal Mapping of the Myeloid Cell Leukemia-1 Gene: MCL1 Maps to Human Chromosome 1q21, a Region That Is Frequently Altered in Preneoplastic and Neoplastic Disease

Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3

A YAC Contig of Approximately 3 Mb from Human Chromosome 5q31 → q33

Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 → q22

Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences

Two Craniosynostotic Syndrome Loci, Crouzon and Jackson-Weiss, Map to Chromosome 10q23-q26

Chromosomal localization of genes required for the terminal steps of oxidative metabolism : α and γ subunits of ATP synthase and the phosphate carrier

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

A centromere-based genetic map of the short arm of human chromosome 6

Roberts/pseudothalidomide syndrome and normal intelligence : approaches to diagnosis and management

Prenatal identification of small mosaic markers of different chromosomal origins

The IPP Gene Is Assigned to Human Chromosome 1p32-1p22

A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3

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