High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.

PubWeight™: 0.88‹?›

🔗 View Article (PMID 10980571)

Published in Eur J Hum Genet on September 01, 2000

Authors

M Kirchhoff1, H Rose, J Maahr, T Gerdes, M Bugge, N Tommerup, Z Tümer, J Lespinasse, P K Jensen, J Wirth, C Lundsteen

Author Affiliations

1: Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Center, The National University Hospital, Copenhagen, Denmark. markir@rh.dk

Articles by these authors

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature (1999) 6.42

BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene (1998) 4.88

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med (1991) 4.61

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet (1994) 4.04

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell (1991) 3.98

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet (1993) 3.63

Determination of catalase activity by means of the Clark oxygen electrode. Biochim Biophys Acta (1967) 3.02

Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet (1997) 2.72

Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography. J Biol Chem (1997) 2.69

Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet (1994) 2.31

Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet (1992) 2.15

Evidence from multiple gene sequences indicates that termites evolved from wood-feeding cockroaches. Curr Biol (2000) 1.90

Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein. J Biol Chem (1996) 1.90

Increasing effects of repetitive cocaine administration in the rat. Nature (1976) 1.85

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet (2005) 1.78

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70

Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins. FEBS Lett (1995) 1.62

Criminality in XYY and XXY men. Science (1976) 1.57

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet (1996) 1.53

Molecular genetic changes in human male germ cell tumors. Lab Invest (1995) 1.53

Isolation of lipid particles from baker's yeast. FEBS Lett (1974) 1.53

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol (1997) 1.43

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet (2011) 1.42

Antimycin-insensitive oxidation of succinate and reduced nicotinamide-adenine dinucleotide in electron-transport particles. I. pH dependency and hydrogen peroxide formation. Biochim Biophys Acta (1966) 1.41

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet (1999) 1.41

Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma. Genes Chromosomes Cancer (1999) 1.40

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet (2000) 1.40

Small intestinal absorption of polyethylene glycol 400 to 1,000 in the portacaval shunted rat. Hepatology (1995) 1.39

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet (2008) 1.37

Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1. J Invest Dermatol (1999) 1.37

Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes. J Biol Chem (1995) 1.35

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet (1998) 1.31

Marker X chromosome induction in fibroblasts by FUdR. Am J Med Genet (1981) 1.31

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet (2000) 1.30

High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet (2001) 1.29

Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry (1998) 1.29

Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X. Hum Genet (1983) 1.26

Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin Genet (1979) 1.24

The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood (1998) 1.24

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. J Med Genet (1981) 1.24

Sequence assembly. Comput Biol Chem (2008) 1.23

Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma. Proc Natl Acad Sci U S A (1997) 1.23

Local recurrences in giant cell tumour of bone. Long-term follow up of 31 cases. Int Orthop (1996) 1.22

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet (2001) 1.21

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet (2001) 1.19

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17

STUDIES OF GALLBLADDER FUNCTION. XV. CHOLESTEROL IN HUMAN LIVER BILE. J Clin Invest (1937) 1.17

Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet (1995) 1.15

Irrigation water as a source of drinking water: is safe use possible? Trop Med Int Health (2001) 1.14

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab (1997) 1.14

Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3. Genomics (1996) 1.13

In vitro measurement of corneal strain, thickness, and curvature using digital image processing. Acta Ophthalmol Scand (1995) 1.13

Renal function in streptozotocin-diabetic rats. Diabetologia (1981) 1.13

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet (1993) 1.12

Children's gender-based reasoning about toys. Child Dev (1995) 1.12

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. Hum Genet (1986) 1.11

Familial X-linked mental retardation and fragile X chromosomes in two Swedish families. Clin Genet (1981) 1.11

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer (1999) 1.11

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet (1983) 1.11

X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet (1981) 1.10

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet (2005) 1.10

Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud. Dev Dyn (1999) 1.09

Further delineation of the 22q13 deletion syndrome. Clin Dysmorphol (2005) 1.08

Replacement of the ascending aorta with composite valve grafts: long term results. J Heart Valve Dis (1996) 1.08

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A (2004) 1.07

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome). Hum Genet (1985) 1.06

Antimycin-insensitive oxidation of succinate and reduced nicotinamide-adenine dinucleotide in electron-transport particles. II. Steroid effects. Biochim Biophys Acta (1966) 1.05

Image analysis in comparative genomic hybridization. Cytometry (1995) 1.05

Early copper-histidine treatment for Menkes disease. Nat Genet (1996) 1.05

Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. Genomics (2001) 1.04

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet (1992) 1.04

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

Menkes disease: an X-linked neurological disorder of the copper metabolism. Brain Pathol (1992) 1.04

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. Am J Med Genet (1983) 1.04