Published in Mol Genet Metab on October 05, 2005
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Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain (2014) 1.26
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet (2006) 1.22
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Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries. Genes Dev (2010) 1.17
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet (2013) 1.02
A subset of signal transduction pathways is required for hippocampal growth cone collapse induced by ephrin-A5. Dev Neurobiol (2008) 0.88
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Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. Plast Reconstr Surg Glob Open (2015) 0.75
Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome. Meta Gene (2013) 0.75
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The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Med Genet (2010) 0.93
Loss of heterozygosity on chromosome 5p13-12 predicts adverse prognosis in advanced bladder cancer independent of tumor stage and grade. J Urol (2002) 0.85
INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling. Cancer Cell Int (2009) 0.84
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. Horm Res Paediatr (2014) 0.83
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer. Oncogene (2005) 0.83
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Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer. Arch Dermatol Res (2004) 0.80
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A (2007) 0.79
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. Neurogenetics (2005) 0.77
Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations. J Pediatr Endocrinol Metab (2016) 0.76
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). Appl Clin Genet (2008) 0.75
Genetic Variants of DICE1/INTS6 in German Prostate Cancer Families with Linkage to 13q14. Urol Int (2015) 0.75
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