Published in Birth Defects Res A Clin Mol Teratol on February 12, 2014
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin. Genomics (2002) 1.81
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
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
Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review. Arch Gynecol Obstet (2011) 1.42
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
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
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
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
Correction of anemia in a transfusion-dependent patient with primary myelofibrosis receiving iron chelation therapy with deferasirox (Exjade, ICL670). Eur J Haematol (2007) 1.07
Chromosome distribution in human sperm - a 3D multicolor banding-study. Mol Cytogenet (2008) 1.06
Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. Hum Mol Genet (2006) 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
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
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
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
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
New insights into the karyotypic evolution in muroid rodents revealed by multicolor banding applying murine probes. Chromosome Res (2010) 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
Detection of cytomegalovirus, parvovirus B19 and herpes simplex viruses in cases of intrauterine fetal death: association with pathological findings. J Med Virol (2008) 0.93
Molecular cytogenetic characterization of epithelioid hemangioendothelioma. Cancer Genet (2011) 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
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
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
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
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
Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates. J Histochem Cytochem (2005) 0.90
Characterization of sSMC by FISH and molecular techniques. Eur J Med Genet (2011) 0.90
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Mol Cytogenet (2010) 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
Recent advances in optical imaging for cervical cancer detection. Arch Gynecol Obstet (2011) 0.90
Narrowing the deleted region associated with the 15q21 syndrome. Eur J Med Genet (2005) 0.89
A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH. J Histochem Cytochem (2012) 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
Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med (2010) 0.88
Angiogenic factors in placentas from pregnancies complicated by fetal growth restriction (review). Mol Med Rep (2012) 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
Expression analysis of Akt and MAPK signaling pathways in lung tissue of patients with idiopathic pulmonary fibrosis (IPF). J Recept Signal Transduct Res (2010) 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
The hierarchically organized splitting of chromosomal bands for all human chromosomes. Mol Cytogenet (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
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
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
Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier. Fertil Steril (2011) 0.87
Common fragile sites: genomic hotspots of DNA damage and carcinogenesis. Int J Mol Sci (2012) 0.87
Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies. J Histochem Cytochem (2005) 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
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
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
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
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
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Eur J Pediatr (2007) 0.85
Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities. J Matern Fetal Neonatal Med (2012) 0.85
Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems. J Histochem Cytochem (2009) 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
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. Am J Med Genet A (2011) 0.85
Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn (2003) 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