Cytogenetics 40 years on.

Solid tissue culture for cytogenetic analysis: a collaborative survey for the Association of Clinical Cytogeneticists. J Clin Pathol (1996) 1.00

Efficacy and applicability of interphase fluorescence in situ hybridization for prenatal diagnosis. Am J Hum Genet (1993) 0.99

Nonisotopic in situ hybridization. Clinical cytogenetics and gene mapping applications. Adv Hum Genet (1994) 0.96

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

A familial reciprocal translocation between three chromosomes. Humangenetik (1974) 0.92

A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet (1995) 0.90

Prevention of spinal neural tube defects in the mouse embryo by growth retardation during neurulation. Development (1988) 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

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

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. J Med Genet (1997) 0.81

A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet (1999) 0.80

FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet (2001) 0.80

Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing. Cytogenet Cell Genet (1989) 0.79

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions. Hum Genet (1995) 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

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

Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn (1996) 0.78

A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn (1996) 0.78

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

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). J Med Genet (1996) 0.75

A highly complex rea(2;3;11) and aniridia by position effect. Cytogenet Genome Res (2006) 0.75

Telomeric translocations are uncommon. Genet Couns (1995) 0.75

48,XYY,+13 karyotype in a liveborn infant. Clin Genet (1980) 0.75

Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet (1993) 0.75

A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations. Genet Couns (2007) 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

Origin of the mar3 in the myeloid cell line HL-60 determined by fluorescence in situ hybridization. Cancer Genet Cytogenet (1998) 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

Functional Xp disomy and hypomelanosis of Ito. Arch Med Res (2000) 0.75

Further case of trisomy 18 mosaicism with a mild phenotype. Am J Med Genet (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

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet (1993) 0.75