Published in Mol Cytogenet on February 18, 2010
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. Am J Med Genet A (2013) 1.48
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A (2012) 0.89
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay. J Reprod Infertil (2012) 0.82
Cytogenomic Aberrations in Congenital Cardiovascular Malformations. Mol Syndromol (2016) 0.79
A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects. PLoS One (2013) 0.78
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res (2002) 16.02
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet (2006) 5.10
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet (2003) 3.27
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
GATA4 sequence variants in patients with congenital heart disease. J Med Genet (2007) 2.08
Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer (2004) 1.77
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A (2005) 1.69
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet (1999) 1.59
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat (2009) 1.47
Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet (2009) 1.44
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet (2004) 1.43
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet (2004) 1.37
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res (2008) 1.35
Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins. Proc Natl Acad Sci U S A (2009) 1.33
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol (2008) 1.29
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet (2005) 1.16
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet (2005) 1.12
Copy number variation of beta-defensins and relevance to disease. Cytogenet Genome Res (2009) 1.09
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet (2005) 1.06
Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits. Am J Med Genet A (2008) 1.03
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A (2005) 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
8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J Med Genet (2002) 0.91
Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet (2002) 0.90
Benign copy number changes in clinical cytogenetic diagnostics by array CGH. Cytogenet Genome Res (2009) 0.90
A duplication including GATA4 does not co-segregate with congenital heart defects. Am J Med Genet A (2009) 0.83
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. Am J Med Genet A (2008) 0.83
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
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
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol (2003) 1.53
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
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
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
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
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
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet (2008) 1.22
Human male recombination maps for individual chromosomes. Am J Hum Genet (2004) 1.21
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
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet (2005) 1.16
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
Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding. Int J Mol Med (2003) 1.12
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
The role of vitamins in cancer: a review. Nutr Cancer (2011) 1.05
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
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat (2010) 1.00
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
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. Am J Med Genet A (2009) 0.98
Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy. Strahlenther Onkol (2003) 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
Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet (2012) 0.97
The DNA-based structure of human chromosome 5 in interphase. Am J Hum Genet (2002) 0.97
Centromere activity in dicentric small supernumerary marker chromosomes. Chromosome Res (2010) 0.96
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes. Am J Obstet Gynecol (2004) 0.96
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95
New insights into the karyotypic evolution in muroid rodents revealed by multicolor banding applying murine probes. Chromosome Res (2010) 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
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. Hum Mutat (2002) 0.93
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. Am J Med Genet A (2013) 0.92
Molecular cytogenetic characterization of epithelioid hemangioendothelioma. Cancer Genet (2011) 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
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
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet (2010) 0.92
Heteromorphic variants of chromosome 9. Mol Cytogenet (2013) 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
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet (2007) 0.91
Characterization of sSMC by FISH and molecular techniques. Eur J Med Genet (2011) 0.90
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. Hum Mol Genet (2009) 0.90
New cytogenetically visible copy number variant in region 8q21.2. Mol Cytogenet (2011) 0.90
Cytogenetic characterisation and proteomic profiling of the Imatinib-resistant cell line KCL22-R. Int J Oncol (2007) 0.90
The gut fermentation product butyrate, a chemopreventive agent, suppresses glutathione S-transferase theta (hGSTT1) and cell growth more in human colon adenoma (LT97) than tumor (HT29) cells. J Cancer Res Clin Oncol (2005) 0.90
A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH. J Histochem Cytochem (2012) 0.89
Narrowing the deleted region associated with the 15q21 syndrome. Eur J Med Genet (2005) 0.89
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur J Hum Genet (2005) 0.89
Consider family history. Dtsch Arztebl Int (2014) 0.88
Whole chromosome painting reveals independent origin of sex chromosomes in closely related forms of a fish species. Genetica (2011) 0.88
Monitoring of gas station attendants exposure to benzene, toluene, xylene (BTX) using three-color chromosome painting. Mol Cytogenet (2014) 0.87
Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report. Mol Cytogenet (2009) 0.87
The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics (2010) 0.87
Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome. Eur J Med Genet (2009) 0.87
The hierarchically organized splitting of chromosomal bands for all human chromosomes. Mol Cytogenet (2009) 0.87
Common fragile sites: genomic hotspots of DNA damage and carcinogenesis. Int J Mol Sci (2012) 0.87
Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier. Fertil Steril (2011) 0.87
Preferred co-localization of chromosome 8 and 21 in myeloid bone marrow cells detected by three dimensional molecular cytogenetics. Int J Mol Med (2009) 0.87
Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon. Mol Cytogenet (2008) 0.87
Altered tissue distribution of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine-DNA adducts in mice transgenic for human sulfotransferases 1A1 and 1A2. Carcinogenesis (2011) 0.87
Multiple copies of BCR-ABL fusion gene on two isodicentric Philadelphia chromosomes in an imatinib mesylate-resistant chronic myeloid leukemia patient. Oncol Lett (2013) 0.86
Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies. J Histochem Cytochem (2005) 0.86
t(11;19)(q21;p12~p13.11) and MECT1-MAML2 fusion transcript expression as a prognostic marker in infantile lung mucoepidermoid carcinoma. J Pediatr Surg (2007) 0.86
Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line. Genet Med (2006) 0.86
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res (2010) 0.86
Novel complex t(V;9;22) rearrangements in three cases with chronic myeloid leukemia and a rare translocation in a case with classical Philadelphia chromosome. Oncol Rep (2008) 0.86
First molecular cytogenetic high resolution characterization of the NIH 3T3 cell line by murine multicolor banding. J Histochem Cytochem (2013) 0.86
Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints. Int J Oncol (2004) 0.85
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A (2006) 0.85
Is 24-color FISH detection of in-vitro radiation-induced chromosomal aberrations suited to determine individual intrinsic radiosensitivity? Strahlenther Onkol (2002) 0.85
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature. Birth Defects Res A Clin Mol Teratol (2014) 0.85
Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems. J Histochem Cytochem (2009) 0.85
Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn (2003) 0.85
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report. Mol Cytogenet (2008) 0.85
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Eur J Pediatr (2007) 0.85
Evidence for interphase DNA decondensation transverse to the chromosome axis: a multicolor banding analysis. Int J Mol Med (2002) 0.85
Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances. J Appl Genet (2011) 0.84
Comet fluorescence in situ hybridization analysis for oxidative stress-induced DNA damage in colon cancer relevant genes. Toxicol Sci (2006) 0.84
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. Case Rep Genet (2012) 0.83
Molecular cytogenetic characterization of the mouse cell line WMP2 by spectral karyotyping and multicolor banding applying murine probes. Int J Mol Med (2006) 0.83