Published in Cytogenet Genome Res on January 01, 2006
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr (1996) 2.50
A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet (1976) 2.25
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet (1990) 1.71
An imprinted gene(s) for diabetes? Nat Genet (1995) 1.65
Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet (2003) 1.61
Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol (2007) 1.44
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet (2000) 1.42
Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants. Humangenetik (1974) 1.35
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet (1997) 1.25
An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet (2000) 1.24
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet (1986) 1.22
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res (2009) 1.09
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet (2003) 1.08
A test of the production line hypothesis of mammalian oogenesis. Hum Genet (1991) 1.06
Complex chromosomal rearrangements. Clin Genet (1981) 1.05
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A (2010) 0.98
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet (1998) 0.96
Prenatal mortality of trisomy 21 (Down's syndrome). Lancet (1974) 0.95
Alphoidless centromere of a familial unstable inverted Y chromosome. Ann Genet (1996) 0.93
A familial reciprocal translocation between three chromosomes. Humangenetik (1974) 0.92
Prevention of spinal neural tube defects in the mouse embryo by growth retardation during neurulation. Development (1988) 0.90
A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet (1995) 0.90
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. J Med Genet (1996) 0.89
A three chromosome translocation involving two homologous chromosomes in a trisomic abortus. Clin Genet (1976) 0.89
XRCC1 polymorphisms and haplotypes in Mexican patients with acute lymphoblastic leukemia. Genet Mol Res (2009) 0.88
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Eur J Med Genet (2012) 0.88
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. J Med Genet (2003) 0.86
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet (1995) 0.86
Male breast cancer, age and sex chromosome aneuploidy. Br J Cancer (2013) 0.85
Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet (1999) 0.85
Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet (1994) 0.84
Intrachromosomal triplication of distal 7p. J Med Genet (1998) 0.83
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J Med Genet (1991) 0.82
Meiotic crossing over exchange in the female mouse visualised by BUdR substitution. Nature (1979) 0.82
A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet (1995) 0.81
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Hum Genet (1999) 0.81
Purification and characterization of simian immunodeficiency virus (SIVmac) envelope glycoprotein gp130 from virus-infected cells. Vaccine (1994) 0.81
Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. J Med Genet (1997) 0.81
FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet (2001) 0.80
GSTT1 gene deletion is associated with lung cancer in Mexican patients. Dis Markers (2004) 0.80
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet (1999) 0.80
MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer. Genet Mol Res (2012) 0.80
Cytochrome P4501A1 polymorphism is associated with susceptibility to acute lymphoblastic leukemia in adult Mexican patients. Blood Cells Mol Dis (2004) 0.80
Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing. Cytogenet Cell Genet (1989) 0.79
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A (2005) 0.79
Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions. Hum Genet (1995) 0.79
Histone H4 acetylation analyses in patients with polysomy X: implications for the mechanism of X inactivation. Hum Genet (1998) 0.79
Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenet Genome Res (2006) 0.79
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn (1996) 0.78
Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn (1996) 0.78
Contractile arrest accelerates myosin heavy chain degradation in neonatal rat heart cells. Am J Physiol (1992) 0.76
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology (2010) 0.76
A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes. J Med Genet (1993) 0.75
Cytogenetics 40 years on. J Clin Pathol (1996) 0.75
Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). J Med Genet (1996) 0.75
48,XYY,+13 karyotype in a liveborn infant. Clin Genet (1980) 0.75
Origin of the mar3 in the myeloid cell line HL-60 determined by fluorescence in situ hybridization. Cancer Genet Cytogenet (1998) 0.75
Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet (1993) 0.75
Telomeric translocations are uncommon. Genet Couns (1995) 0.75
Molecular approaches to the detection of deletions and uniparental disomy in prader-willi and angelman syndromes. Methods Mol Med (1996) 0.75
Further case of trisomy 18 mosaicism with a mild phenotype. Am J Med Genet (1995) 0.75
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population. Ann Genet (2003) 0.75
Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet (1993) 0.75
Functional Xp disomy and hypomelanosis of Ito. Arch Med Res (2000) 0.75
Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia. Cancer Genet Cytogenet (2002) 0.75
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J (2008) 0.75
A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations. Genet Couns (2007) 0.75
Haplotypes Eco47 III-Nsp I sites frequencies on the IDUA gene in Mexican native population. Eur J Med Genet (2005) 0.75
Is the sex ratio at birth affected by immune selection? Exp Clin Immunogenet (1985) 0.75
Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization. Br J Haematol (1995) 0.75