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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

Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet (1976) 2.34

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

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

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

Are double translocations double trouble? J Med Genet (1988) 0.91

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

Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. J Med Genet (1977) 0.87

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet (1995) 0.86

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

Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet (1999) 0.85

Male breast cancer, age and sex chromosome aneuploidy. Br J Cancer (2013) 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

Alpha-fetoprotein levels in amniotic fluids from spontaneous abortions. Br Med J (1974) 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

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

The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics. J Med Genet (1983) 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

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

High risk of Down's syndrome at advanced maternal age. Lancet (1978) 0.77

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology (2010) 0.76

The primary sex ratio of man. Ann Hum Biol (1977) 0.76

Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype. Clin Genet (1998) 0.76

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

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

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

Further case of trisomy 18 mosaicism with a mild phenotype. Am J Med Genet (1995) 0.75

[Familial partial 17p duplication]. Orv Hetil (1987) 0.75

Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization. Br J Haematol (1995) 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

Complex chromosomal rearrangements. Am J Med Genet (1989) 0.75

Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid. Prenat Diagn (1993) 0.75

Premature chromosome condensation in childhood acute lymphoblastic leukaemia: correlation of proliferative potential index in blood and marrow. Genes Chromosomes Cancer (1989) 0.75

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

Molecular approaches to the detection of deletions and uniparental disomy in prader-willi and angelman syndromes. Methods Mol Med (1996) 0.75

Is the sex ratio at birth affected by immune selection? Exp Clin Immunogenet (1985) 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

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