Published in Am J Hum Genet on September 01, 1987
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Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
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Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet (2000) 1.85
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet (1995) 1.85
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FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet (1996) 1.70
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322. Nature (1981) 1.69
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Differential expression of epidermal growth factor-related proteins in human colorectal tumors. Proc Natl Acad Sci U S A (1991) 1.52
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet (1999) 1.50
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet (1996) 1.49
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet (2005) 1.46
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TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A (1997) 1.44
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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell (2000) 1.38
Expression of vascular endothelial growth factor and placenta growth factor in human placenta. Biol Reprod (1997) 1.37
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet (1999) 1.35
Characterization of an alpha 1----3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene. J Biol Chem (1991) 1.31
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet (1995) 1.31
Abrogation of the Cripto gene in mouse leads to failure of postgastrulation morphogenesis and lack of differentiation of cardiomyocytes. Development (1999) 1.29
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat Genet (1995) 1.28
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Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet (1997) 1.25
Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas. Am J Pathol (1996) 1.25
The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. J Biol Chem (1993) 1.23
Specific arrest of cardiogenesis in cultured embryonic stem cells lacking Cripto-1. Dev Biol (1998) 1.20
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet (2006) 1.20
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet (1998) 1.16
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet (2005) 1.16
Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A. J Biol Chem (1993) 1.15
Membrane-anchorage of Cripto protein by glycosylphosphatidylinositol and its distribution during early mouse development. Mech Dev (2000) 1.15
Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics (1992) 1.15
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet (1993) 1.09
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics (1989) 1.09
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet (1998) 1.08
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am J Hum Genet (1988) 1.07
The placenta growth factor gene of the mouse. Mamm Genome (1996) 1.07
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum Genet (1988) 1.06
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet (2002) 1.06
Expression of cripto, a novel gene of the epidermal growth factor gene family, leads to in vitro transformation of a normal mouse mammary epithelial cell line. Cancer Res (1991) 1.05
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Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet (2001) 1.00
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Human lymphoblastoid cells produce extracellular matrix-degrading enzymes and induce endothelial cell proliferation, migration, morphogenesis, and angiogenesis. Int J Clin Lab Res (1998) 0.97
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. Am J Med Genet (1999) 0.97
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet (1999) 0.95
Terminal deletion(4)(q33) in a male infant. Clin Genet (1982) 0.95
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A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet (1999) 0.93
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Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenat Diagn (1997) 0.92
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A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs. FEBS Lett (1993) 0.91
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Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet (1995) 0.91
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Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain. Gene (1993) 0.91
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. Hum Genet (2000) 0.90
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Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. Genomics (1992) 0.88
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Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet (1999) 0.87
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Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics (1998) 0.86
Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am J Med Genet (1993) 0.86
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