Publications 2004
- (2004)Genomic gain of the epidermal growth factor receptor harboring band 7p12 is part of a complex pattern of genomic imbalances in oral squamous cell carcinomas.Arch Med Res. 2004;35(5): 385-94
- (2004)Comparative genomic hybridization (CGH): ten years of substantial progress in human solid tumor molecular cytogenetics.Cytogenet Genome Res. 2004;104(1-4): 352-8
- (2004)Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints.Int J Oncol. 2004;24(1): 127-36
- (2004)Comparative analysis of imbalances in genomic DNA and mRNA expression levels in chondrosarcoma-derived cell line FSCP-1.Int J Oncol. 2004;25(6): 1651-60
- (2004)Inverse correlation of epidermal growth factor receptor messenger RNA induction and suppression of anchorage-independent growth by OSI-774, an epidermal growth factor receptor tyrosine kinase inhibitor, in glioblastoma multiforme cell lines.J Neurosurg. 2004;100(3): 523-33
- (2004)Combination treatment of glioblastoma multiforme cell lines with the anti-malarial artesunate and the epidermal growth factor receptor tyrosine kinase inhibitor OSI-774.Biochem Pharmacol. 2004;67(9): 1689-700
- (2004)Comet-FISH using peptide nucleic acid probes detects telomeric repeats in DNA damaged by bleomycin and mitomycin C proportional to general DNA damage.Mutagenesis. 2004;19(5): 403-8
- (2004)Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.Am J Med Genet A. 2004;124(1): 102-4
- (2004)Search for somatic 22q11.2 deletions in patients with conotruncal heart defects.Am J Med Genet A. 2004;124(2): 165-9
- (2004)Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure.Br J Ophthalmol. 2004;88(4): 581-2
- (2004)Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.Am J Med Genet A. 2004;126(1): 78-83
- (2004)Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.Hypertension. 2004;43(2): 471-6
- (2004)Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.J Med Genet. 2004;41(2): e16
- (2004)Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.J Med Genet. 2004;41(4): e40
- (2004)Molecular karyotyping using an SNP array for genomewide genotyping.J Med Genet. 2004;41(12): 916-22
- (2004)A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.Am J Hum Genet. 2004;74(4): 731-7
- (2004)Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.Am J Hum Genet. 2004;75(1): 138-45
- (2004)Genotype-phenotype correlations in Noonan syndrome.J Pediatr. 2004;144(3): 368-74
- (2004)Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?Eur J Pediatr. 2004;163(11): 642-5
- (2004)Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.Eur J Hum Genet. 2004;12(11): 879-90
- (2004)Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.J Evol Biol. 2004;17(2): 453-60
- (2004)Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.Neuromuscul Disord. 2004;14(5): 301-6
- (2004)Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.Hum Mol Genet. 2004;13(21): 2625-32
- (2004)Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.Am J Med Genet A. 2004;130(2): 138-45
- (2004)Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.Neurogenetics. 2004;5(4): 229-38
- (2004)A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I).Eur J Pain. 2004;8(3): 221-5
- (2004)Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.Neurology. 2004;63(4): 733-5
- (2004)Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.J Med Genet. 2004;41(5): e64
- (2004)[Detection by ultrasonic computed tomography]Ultraschall Med. 2004;25(2): 105
- (2004)Monitoring of nevus density in children as a method to detect shifts in melanoma risk in the population.Prev Med. 2004;38(4): 382-7
- (2004)LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.Genomics. 2004;83(2): 254-61
- (2004)[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families]Rofo. 2004;176(4): 564-9
- (2004)Mutations in microcephalin cause aberrant regulation of chromosome condensation.Am J Hum Genet. 2004;75(2): 261-6
- (2004)Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21).J Dent Res. 2004;83(8): 608-12
