Published in Cytogenet Genome Res on January 01, 2006
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Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet (1996) 3.13
Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenet Genome Res (2006) 2.52
Hepatocyte differentiation of mesenchymal stem cells from human adipose tissue in vitro promotes hepatic integration in vivo. Gut (2008) 2.32
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet (1994) 2.07
SUT2, a putative sucrose sensor in sieve elements. Plant Cell (2000) 1.97
Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod (1998) 1.81
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Non-disjunction of chromosome 18. Hum Mol Genet (1998) 1.62
Mitochondrial deafness. Clin Genet (2007) 1.61
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet (1997) 1.57
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet (1999) 1.44
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries. Cytogenet Genome Res (2002) 1.39
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet (1992) 1.38
Clinical and molecular aspects of aniridia. Clin Genet (2010) 1.34
Interstitial deletion 1p in a 30 year old woman. J Med Genet (1987) 1.29
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet (1990) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet (1995) 1.21
Salivary secretion in reflux esophagitis. Gastroenterology (1982) 1.17
Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res (2006) 1.15
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet (1998) 1.12
Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res (2007) 1.09
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med (2007) 1.07
Multicolor FISH probe sets and their applications. Histol Histopathol (2004) 1.06
Function of the cytosolic N-terminus of sucrose transporter AtSUT2 in substrate affinity. FEBS Lett (2000) 1.05
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J Med Genet (1987) 1.04
Multitude multicolor chromosome banding (mMCB) - a comprehensive one-step multicolor FISH banding method. Cytogenet Genome Res (2003) 1.04
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin Genet (2011) 1.03
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet (1999) 1.03
Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A (2006) 1.01
Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sex Dev (2008) 1.00
Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. Int J Mol Med (2008) 1.00
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A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A (2006) 0.98
Scratch induction in the rat by intradermal serotonin: a model for pruritus. Acta Derm Venereol (2001) 0.98
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet (1999) 0.97
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet (1999) 0.97
Clinical variability of genetic isolates of Cohen syndrome. Clin Genet (2011) 0.96
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet (1992) 0.96
DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet (1992) 0.95
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res (2009) 0.94
Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient. Cytogenet Genome Res (2005) 0.93
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. Am J Med Genet (2000) 0.93
"Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet (1994) 0.92
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet (1999) 0.91
BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat (2000) 0.91
Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements. Balkan J Med Genet (2011) 0.90
Management and outcome of severe diabetic foot infections. Exp Clin Endocrinol Diabetes (1998) 0.90
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. Genomics (1992) 0.89
Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet (1996) 0.89
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. Clin Genet (1993) 0.89
First case of a neocentromere formation in an otherwise normal chromosome 7. Cytogenet Genome Res (2009) 0.89
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS). J Med Genet (1994) 0.89
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet (1998) 0.89
Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin. Cytogenet Genome Res (2012) 0.88
Evidence for a new microdeletion syndrome in 15q21. Int J Mol Med (2003) 0.88
Rare chromosome 20 variants encountered during prenatal diagnosis. Prenat Diagn (1986) 0.88
Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol (1999) 0.87
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat (2001) 0.86
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet (1997) 0.86
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics (1991) 0.86
Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood (1998) 0.86
Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol (1999) 0.86
The hierarchically organized splitting of chromosome bands into sub-bands analyzed by multicolor banding (MCB). Cytogenet Genome Res (2004) 0.86
ZrO2 three-unit fixed partial dentures: comparison of failure load before and after exposure to a mastication simulator. J Oral Rehabil (2007) 0.86
Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p? Cytogenet Genome Res (2010) 0.85
An HDAC1-binding domain within FATS bridges p21 turnover to radiation-induced tumorigenesis. Oncogene (2010) 0.85
Status at two years in 121 very low birth weight survivors related to neonatal intraventricular haemorrhage and mode of delivery. Acta Paediatr Scand (1986) 0.85
Weekly irinotecan in a patient with metastatic colorectal cancer on hemodialysis due to chronic renal failure. Onkologie (2002) 0.85
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. Am J Hum Genet (1991) 0.85
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. Prenat Diagn (2002) 0.85
Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn (2007) 0.85
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia. Mol Syndromol (2012) 0.85
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet (1994) 0.85
Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm. Mol Hum Reprod (2007) 0.84
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet (2000) 0.84
Measuring patient satisfaction: collecting useful data. J Nurs Qual Assur (1988) 0.84