Published in Genet Res on February 22, 1991
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet (1992) 1.15
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J (1991) 0.93
Molecular and cytogenetic analysis of a familial microdeletion of Xq. J Med Genet (1991) 0.91
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
Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy. Am J Hum Genet (1995) 0.87
X inactivation patterns in female monozygotic twins and their families. J Med Genet (1994) 0.84
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. J Med Genet (1993) 0.77
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet (2016) 0.76
Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics (1972) 22.68
Infant zygosity can be assigned by parental report questionnaire data. Twin Res (2000) 4.33
Trisomy in man. Annu Rev Genet (1984) 4.15
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell (1991) 3.98
A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet (1980) 3.82
A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet (1974) 3.80
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature (1997) 3.27
The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet (1984) 3.17
Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q. Genomics (1989) 3.16
Aggressive behavior, mental sub-normality and the XYY male. Nature (1965) 3.10
Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet (1991) 3.08
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. Mol Psychiatry (2006) 2.80
DNA by mail: an inexpensive and noninvasive method for collecting DNA samples from widely dispersed populations. Behav Genet (1997) 2.64
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature (1983) 2.59
Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature (1974) 2.23
An analysis of the break points of structural rearrangements in man. J Med Genet (1974) 2.18
Fragile X premutation screening in women with premature ovarian failure. Hum Reprod (1998) 1.99
Structural abnormalities of the Y chromosome in man. Nature (1966) 1.99
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet (1981) 1.97
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
X-linked mental retardation: a study of 7 families. Am J Med Genet (1980) 1.93
Chromosome studies on randomly chosen men and women. Lancet (1965) 1.92
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet (1998) 1.87
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet (1982) 1.86
Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet (1972) 1.86
Chromosome studies on 3500 newborn male infants. Lancet (1970) 1.82
Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1. Ann Hum Genet (1974) 1.81
Muscular dystrophy in girls with X;autosome translocations. J Med Genet (1986) 1.78
Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways. Cytogenet Cell Genet (1986) 1.76
Direct analysis of the chromosome constitution of human spermatozoa. Nature (1978) 1.76
Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet (1981) 1.74
Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities. Clin Genet (1972) 1.70
The inheritance of translocations in man: data from families ascertained through a balanced heterozygote. Ann Hum Genet (1970) 1.66
An imprinted gene(s) for diabetes? Nat Genet (1995) 1.65
Mechanism of origin of complete hydatidiform moles. Nature (1980) 1.55
Acrocentric chromosome associations in man. Am J Hum Genet (1976) 1.53
Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52
Structural abnormalities of the sex chromosomes. Br Med Bull (1969) 1.51
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet (1991) 1.47
Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. Mol Psychiatry (2011) 1.44
Cytogenetic and molecular studies of trisomy 13. J Med Genet (1987) 1.43
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Nat Genet (1999) 1.38
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet (1986) 1.38
Pericentric inversion of a group C autosome: a study of three families. Ann Hum Genet (1968) 1.37
Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22. Genomics (1989) 1.37
A centromere map of the X chromosome from trisomies of maternal origin. Ann Hum Genet (1990) 1.37
Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255]. Nucleic Acids Res (1987) 1.36
A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr Eye Res (1998) 1.35
Origin of human trisomics and polyploids. Hum Hered (1977) 1.34
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers. Proc Natl Acad Sci U S A (1986) 1.34
The chromosome complement of human gametes. Oxf Rev Reprod Biol (1992) 1.34
A survey of sex chromatin abnormalities in mental hospitals. J Med Genet (1968) 1.32
Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. Hum Mol Genet (1994) 1.32
Epidemiology of chromosome abnormalities in man. Am J Epidemiol (1977) 1.30
More on marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med (1979) 1.30
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
An inherited X-autosome translocation in man. Ann Hum Genet (1971) 1.30
Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet (1986) 1.28
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet (1996) 1.27
The origin of human triploids. Ann Hum Genet (1978) 1.27
X chromosome loss and ageing. Cytogenet Genome Res (2007) 1.26
Translocation heterozygosity and associated subfertility in man. Cytogenetics (1972) 1.25
Probable assignment of the alpha locus of haptoglobin to chromome 16 in man. Nature (1969) 1.25
Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am J Hum Genet (1995) 1.23
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet (2005) 1.23
A cytogenetic study of spontaneous abortions in Hawaii. Ann Hum Genet (1978) 1.23
A highly informative X-chromosome probe, M27 beta, can be used for the determination of tumour clonality. Br J Haematol (1990) 1.20
A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. Clin Genet (1978) 1.18
C- and Q-band polymorphisms in the chromosomes of three human populations. Ann Hum Genet (1976) 1.16
The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results. Clin Genet (1975) 1.16
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum Genet (1994) 1.13
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype. Am J Med Genet (1992) 1.11
Cross-cultural differences in GPs' attitudes towards complementary and alternative medicine: a survey comparing regions of the UK and Germany. Complement Ther Med (2002) 1.11
Expression of the marker (X) (q28) in lymphoblastoid cell lines. Am J Hum Genet (1982) 1.11
Molecular heterogeneity of translocations associated with muscular dystrophy. Clin Genet (1987) 1.11
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors. Hum Mol Genet (2001) 1.11
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet (2001) 1.10
Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome. Ann Hum Genet (1984) 1.10
GENESiS: creating a composite index of the vulnerability to anxiety and depression in a community-based sample of siblings. Twin Res (2000) 1.10
The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet (1999) 1.09
The parental origin of the extra X chromosome in 47,XXX females. Am J Hum Genet (1990) 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
Human chromosome heteromorphisms (variants). Prog Med Genet (1977) 1.07
A study of females with deletions of the short arm of the X chromosome. Hum Genet (1998) 1.07
A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J Med Genet (1992) 1.06
Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. Development (1998) 1.06
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc Natl Acad Sci U S A (1993) 1.06
Genetic control of mitochondrial enzymes in human-mouse somatic cell hybrids. Nature (1973) 1.05
Maternal age in trisomy. Ann Hum Genet (1988) 1.05
Coordination chemistry of trivalent lanthanide and actinide ions in dilute and concentrated chloride solutions. Inorg Chem (2000) 1.05
Cytogenetic studies of chromosome aberrations. Hum Genet (1990) 1.05
The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression. Mol Psychiatry (2012) 1.04
Marker X syndrome in an oriental family with probable transmission by a normal male. Am J Med Genet (1982) 1.04
Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus. Proc Natl Acad Sci U S A (1989) 1.04