Published in Cytogenet Genome Res on February 20, 2013
Rapid mechanisms for generating genome diversity: whole ploidy shifts, aneuploidy, and loss of heterozygosity. Cold Spring Harb Perspect Med (2014) 0.87
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet (2013) 0.84
Assessment of copy number variations in the brain genome of schizophrenia patients. Mol Cytogenet (2015) 0.83
In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Mol Cytogenet (2014) 0.81
Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. Mol Cytogenet (2015) 0.81
Additional mechanisms conferring genetic susceptibility to Alzheimer's disease. Front Cell Neurosci (2015) 0.79
Coherent somatic mutation in autoimmune disease. PLoS One (2014) 0.78
5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy. Springerplus (2015) 0.75
3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. Mol Cytogenet (2015) 0.75
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. Int J Genomics (2015) 0.75
Serologic Markers of Autism Spectrum Disorder. J Mol Neurosci (2017) 0.75
The phylogeny of human chromosome specific alpha satellites. Chromosoma (1988) 1.46
Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet (2007) 1.29
Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB). Chromosome Res (2006) 1.18
Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Brain Dev (2001) 1.14
Definition of a new alpha satellite suprachromosomal family characterized by monomeric organization. Nucleic Acids Res (1993) 1.12
Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics (2008) 1.12
Chromosome-specific alpha satellites: two distinct families on human chromosome 18. Genomics (1991) 1.08
High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes. Hum Genet (1996) 1.05
Somatic genome variations in health and disease. Curr Genomics (2010) 1.04
Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum Genet (1993) 1.01
The units of DNA replication in the mammalian chromosomes: evidence for a large size of replication units. Chromosoma (1977) 0.97
Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev (2001) 0.88
Non-disjunction of chromosome 21, alphoid DNA variation, and sociogenetic features of Down syndrome. Tsitol Genet (2006) 0.87
Trisomy 21 mosaicism: we may all have a touch of Down syndrome. Cytogenet Genome Res (2013) 0.86
18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence. Hum Genet (1986) 0.86
Molecular cytogenetic diagnosis and somatic genome variations. Curr Genomics (2010) 0.86
Ontogenetic variation of the human genome. Curr Genomics (2010) 0.86
Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of post-replicated cells with site-specific cosmid and cosmid contig probes. Prenat Diagn (1995) 0.86
Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia. Cytogenet Genome Res (2008) 0.85
Application of cloned satellite DNA sequences to molecular-cytogenetic analysis of constitutive heterochromatin heteromorphisms in man. Hum Genet (1987) 0.83
Rate of DNA replication fork movement within a single mammalian cell. J Mol Biol (1980) 0.83
FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome. Brain Dev (2001) 0.81
Replication of chromosomal DNA in diploid Drosophila melanogaster cells cultured in vitro. Chromosoma (1977) 0.81
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Chimerism and multiple numerical chromosome imbalances in a spontaneously aborted fetus. Tsitol Genet (2007) 0.80
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Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa. Mol Hum Reprod (1996) 0.79
Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: evidence against pathological significance of alphoid satellite DNA diminutions. Tsitol Genet (1999) 0.79
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Clinical, neurophysiological and immunological correlations in classical Rett syndrome. Brain Dev (2001) 0.78
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[Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations]. Zh Nevrol Psikhiatr Im S S Korsakova (2013) 0.78
[The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome]. Zh Nevrol Psikhiatr Im S S Korsakova (2014) 0.78
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16q subtelomeric deletion in proband with congenital malformations and mental retardation. Tsitol Genet (2001) 0.77
Segment substitutions in alpha satellite DNA. Unusual structure of human chromosome 3-specific alpha satellite repeat unit. J Mol Biol (1993) 0.77
Do clusters of replication units in the mammalian cells exist? Exp Cell Res (1979) 0.77
Two new cases of the Christchurch (Ch1) chromosome 21: evidence for clinical consequences of de novo deletion 21P-. Tsitol Genet (2002) 0.77
Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions. Anal Cell Pathol (1994) 0.77
[Cytogenetic, molecular cytogenetic, clinical and genealogical study of mothers of children with autism: a search for family genetic markers of autistic disorders]. Zh Nevrol Psikhiatr Im S S Korsakova (2009) 0.76
Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome. Brain Dev (2001) 0.76
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[Current methods of molecular cytogenetics in pre- and postnatal diagnosis of chromosome aberrations]. Klin Lab Diagn (2000) 0.76
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[X chromosome inactivation pattern in elderly women over 70 years of age]. Tsitol Genet (2005) 0.76
[Molecular cytogenetic pre- and postnatal diagnosis of chromosomal abnormalities]. Vestn Ross Akad Med Nauk (1999) 0.76
Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes. Hum Genet (1990) 0.76
Double color in situ hybridization of alpha-satellite chromosome 13, 21 specific cosmid clones for a rapid screening of their specificity. Tsitol Genet (1998) 0.76
Fluorescence intensity profiles of in situ hybridization signals depict genome architecture within human interphase nuclei. Tsitol Genet (2009) 0.76
Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations. Tsitol Genet (2006) 0.76
[Diagnosis of numerical chromosomal aberrations in the cells of spontaneous abortions by multicolor fluorescence in situ hybridization (MFISH)]. Klin Lab Diagn (2005) 0.76
The rate of fork movement during DNA replication in mammalian cells. Chromosoma (1979) 0.75
Genomic organization, sequence and polymorphism of the human chromosome 4-specific alpha-satellite DNA. Gene (1994) 0.75
[Molecular cytogenetic methods for studying interphase chromosomes in human brain cells]. Genetika (2010) 0.75
Replication of chromosomal DNA in cultured abnormal human cells. Hum Genet (1978) 0.75
DNA replication in human diploid cells of different origin. Cell Differ (1977) 0.75
[Unusual case of 18p- syndrome: diagnosis using a cloned DNA fragment]. Tsitol Genet (1986) 0.75
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[Quantitative analysis of fluorescence in situ hybridization (FISH) signals for molecular cytogenetic diagnosis]. Klin Lab Diagn (2005) 0.75
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[A case of deletion of the short arm of the chromosome 21 (21p-) (christchurch chromosome) discovered prenatally:clinical and cytogenetic data]. Tsitol Genet (2004) 0.75
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[Instability of chromosomes in human nerve cells (normal and with neuromental diseases)]. Genetika (2010) 0.75
[Nervous and mental diseases in boys and mutations in MECP2 gene]. Zh Nevrol Psikhiatr Im S S Korsakova (2004) 0.75
Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application. Hum Genet (1995) 0.75
[Prenatal diagnosis of hereditary diseases]. Med Sestra (1988) 0.75
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[Genomic instability in the brain: etiology, pathogenesis and new biological markers of psychiatric disorders]. Vestn Ross Akad Med Nauk (2012) 0.75
[Molecular cytogenetic studies of chromosomal abnormalities and disorders in nervous and mental diseases: search for biological markers for diagnosis]. Vestn Ross Akad Med Nauk (2001) 0.75
[A familial case of mental retardation syndrome linked to fragile X chromosome]. Zh Nevrol Psikhiatr Im S S Korsakova (1998) 0.75
[Medicogenetic consultation and the prenatal diagnosis of anencephaly]. Akush Ginekol (Mosk) (1981) 0.75
[Dynamics of changes in human cells with chromosome and genetic mutations in prolonged cultivation in a stationary phase. Report 1. Study of cells in xeroderma pigmentosum]. Arkh Anat Gistol Embriol (1975) 0.75
[Cytogenetic and molecular genetic diagnostics of Rett syndrome in children]. Zh Nevrol Psikhiatr Im S S Korsakova (1998) 0.75
[Method of diagnosing aneuploidies using in situ hybridization: analysis of interphase nuclei]. Biull Eksp Biol Med (1991) 0.75
[Characteristics of human embryonal hepatocytes cultivated in vitro]. Biull Eksp Biol Med (1975) 0.75
[Contemporary views on Rett's syndrome: clinical, cytogenetic and molecular studies]. Zh Nevrol Psikhiatr Im S S Korsakova (1999) 0.75
Human embryonic prealbumin as a marker for tumours and fibroblasts. Lancet (1978) 0.75
[The use of modern diagnostic and preventive technologies in children with hereditary and congenital intellectual developmental disorders]. Vestn Ross Akad Med Nauk (2006) 0.75
[Stationary populations of genetically different homonuclear strains of human cells]. Biull Eksp Biol Med (1978) 0.75
[Mental retardation syndrome due to fragile X chromosome: diagnostic and genetic problems]. Zh Nevrol Psikhiatr Im S S Korsakova (1998) 0.75
[An analysis of human marker chromosomes originating from chromosome 21 by using in situ hybridization]. Tsitol Genet (1996) 0.75
[Dynamics of the change in mitotic activity and labeled cell index in diploid embryonic strains of fibroblast-like human cells]. Lab Delo (1976) 0.75
[A review of the data from cytogenetic and molecular cytogenetic research on human supernumerary minichromosomes]. Tsitol Genet (1995) 0.75
Enlargement of the long arm of a B-group chromosome (Bq+) in a boy aged nine years. Sov Genet (1973) 0.75
[Molecular cytogenetic study of Robertsonian translocation 13;14 and Down syndrome in a 3-year-old infant]. Tsitol Genet (2005) 0.75
[Original molecular cytogenetic approach to determining spontaneous chromosomal mutations in the interphase cells to evaluate the mutagenic activity of environmental factors]. Gig Sanit (2011) 0.75