Published in Mol Cytogenet on May 28, 2010
First molecular cytogenetic high resolution characterization of the NIH 3T3 cell line by murine multicolor banding. J Histochem Cytochem (2013) 0.86
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum. Mol Cytogenet (2011) 0.79
Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease. Iran J Pediatr (2016) 0.76
Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities. Mol Cytogenet (2016) 0.75
Multi-Color Spectral Transcript Analysis (SPECTRA) for Phenotypic Characterization of Tumor Cells. Biomolecules (2013) 0.75
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet (1999) 4.20
Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet (2000) 2.82
Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med (2002) 2.74
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am J Med Genet A (2003) 1.63
GLUT1 deficiency syndrome--2007 update. Dev Med Child Neurol (2007) 1.37
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A (2007) 1.16
1p microdeletion in sibs with minimal phenotypic manifestations. Am J Med Genet (1999) 0.94
Two new cases of pure 1q terminal deletion presenting with brain malformations. Am J Med Genet A (2008) 0.94
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH. Am J Med Genet A (2004) 0.92
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev Med Child Neurol (2007) 0.86
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med (2002) 2.74
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A (2008) 2.15
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med (2007) 1.78
Specific miRNA signatures are associated with metastasis and poor prognosis in clear cell renal cell carcinoma. World J Urol (2011) 1.72
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
CD70: a new tumor specific biomarker for renal cell carcinoma. J Urol (2005) 1.67
Protein profiles of bronchoalveolar lavage fluid from patients with pulmonary sarcoidosis. Am J Respir Crit Care Med (2006) 1.61
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer (2009) 1.46
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A (2006) 1.46
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet (2009) 1.43
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Regulation of the anaphase-promoting complex by the COP9 signalosome. Cell Cycle (2009) 1.40
Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis (2009) 1.39
Two different del(5q) clones in a patient with myelodysplastic syndrome. Leuk Lymphoma (2011) 1.39
Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones. Int J Oncol (2010) 1.33
Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One (2010) 1.32
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet (2009) 1.32
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat (2004) 1.25
Human male recombination maps for individual chromosomes. Am J Hum Genet (2004) 1.21
Spatial segmentation of imaging mass spectrometry data with edge-preserving image denoising and clustering. J Proteome Res (2010) 1.20
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet (2002) 1.19
Microdeletion and microduplication syndromes. J Histochem Cytochem (2012) 1.14
The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res (2007) 1.13
ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet (2009) 1.12
Protein profiling of microdissected pancreas carcinoma and identification of HSP27 as a potential serum marker. Clin Chem (2007) 1.12
Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding. Int J Mol Med (2003) 1.12
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity. Eur J Hum Genet (2006) 1.08
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol Cytogenet (2008) 1.07
Chromosome distribution in human sperm - a 3D multicolor banding-study. Mol Cytogenet (2008) 1.06
Interphase chromosome-specific multicolor banding (ICS-MCB): a new tool for analysis of interphase chromosomes in their integrity. Biomol Eng (2007) 1.06
Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. Hum Mol Genet (2006) 1.06
A technical triade for proteomic identification and characterization of cancer biomarkers. Cancer Res (2004) 1.05
Toward standardized high-throughput serum diagnostics: multiplex-protein array identifies IL-8 and VEGF as serum markers for colon cancer. J Biomol Screen (2011) 1.04
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A (2006) 1.04
High-throughput sequencing of microdissected chromosomal regions. Eur J Hum Genet (2009) 1.04
Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem (2011) 1.03
Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet A (2006) 1.02
The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels. Brain Res Bull (2010) 1.01
Identification of CD70 as a diagnostic biomarker for clear cell renal cell carcinoma by gene expression profiling, real-time RT-PCR and immunohistochemistry. Eur J Cancer (2005) 1.01
Identification of specific protein markers in microdissected hepatocellular carcinoma. J Proteome Res (2007) 1.01
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet (2005) 1.00
Variation in crossover interference levels on individual chromosomes from human males. Hum Mol Genet (2008) 0.99
Suspension (S)-FISH, a new technique for interphase nuclei. J Histochem Cytochem (2002) 0.99
Novel cryptic chromosomal rearrangements detected in acute lymphoblastic leukemia detected by application of new multicolor fluorescent in situ hybridization approaches. Int J Oncol (2006) 0.99
Specific protein and miRNA patterns characterise tumour-associated fibroblasts in bladder cancer. J Cancer Res Clin Oncol (2010) 0.98
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A (2006) 0.97
A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes. Oncol Lett (2010) 0.97
The DNA-based structure of human chromosome 5 in interphase. Am J Hum Genet (2002) 0.97
Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet (2012) 0.97
Centromere activity in dicentric small supernumerary marker chromosomes. Chromosome Res (2010) 0.96
The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease. FASEB J (2007) 0.96
New insights into the karyotypic evolution in muroid rodents revealed by multicolor banding applying murine probes. Chromosome Res (2010) 0.95
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95
A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers. Prenat Diagn (2007) 0.95
The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet (2010) 0.94
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med (2008) 0.93
Immune escape for renal cell carcinoma: CD70 mediates apoptosis in lymphocytes. Neoplasia (2006) 0.93
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. Leuk Res (2008) 0.93
Molecular cytogenetic characterization of epithelioid hemangioendothelioma. Cancer Genet (2011) 0.92
Somatic mosaicism in cases with small supernumerary marker chromosomes. Curr Genomics (2010) 0.92
Heteromorphic variants of chromosome 9. Mol Cytogenet (2013) 0.92
An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet (2006) 0.92
Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases. Eur J Med Genet (2005) 0.92
Protein profiling of oral brush biopsies: S100A8 and S100A9 can differentiate between normal, premalignant, and tumor cells. Proteomics Clin Appl (2007) 0.92
A new t(9;11;20;22)(q34;p11.2;q11.21;q11) in a Philadelphia-positive chronic myeloid leukemia case. Oncol Lett (2012) 0.92
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR. Am J Med Genet A (2003) 0.92