Published in Clin Genet on September 01, 1987
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics (2000) 2.16
Progression from colorectal adenoma to carcinoma is associated with non-random chromosomal gains as detected by comparative genomic hybridisation. J Clin Pathol (1998) 1.54
High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet (1992) 1.31
Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet (1994) 1.23
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet (1998) 1.16
A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet (1987) 1.15
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet (2008) 1.03
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet (1997) 0.96
The distal region of 11p13 and associated genetic diseases. Genomics (1991) 0.91
Human synaptonemal complex protein 1 (SCP1): isolation and characterization of the cDNA and chromosomal localization of the gene. Genomics (1997) 0.90
Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs. Cytogenet Cell Genet (1993) 0.90
An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics (1994) 0.89
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome? Clin Dysmorphol (2000) 0.89
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet (1995) 0.88
The generation of ordered sets of cosmid DNA clones from human chromosome region 11p. Genomics (1992) 0.87
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. Clin Genet (1996) 0.87
Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. Genomics (1997) 0.86
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet (1999) 0.85
Imprinting and Beckwith-Wiedemann syndrome. Lancet (1992) 0.84
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int (1992) 0.84
Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization. Prenat Diagn (1993) 0.83
Further delineation of the partial proximal trisomy 10q syndrome. J Med Genet (1995) 0.83
Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. Am J Med Genet (1998) 0.82
Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23. Cytogenet Cell Genet (1989) 0.81
Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet (1994) 0.81
Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system. Prenat Diagn (1999) 0.81
Isolation and characterization of the human SCP2 cDNA and chromosomal localization of the gene. Mamm Genome (1999) 0.80
A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1). Clin Dysmorphol (1999) 0.77
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet (2000) 0.77
An integrated map of chromosome 18 CAG trinucleotide repeat loci. Eur J Hum Genet (1999) 0.76
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet (1996) 0.76
FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse. Mamm Genome (1997) 0.75
First-trimester non-invasive prenatal diagnosis of triploidy. Prenat Diagn (1999) 0.75
FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy. Prenat Diagn (2001) 0.75
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. Am J Med Genet (1999) 0.75
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. Clin Dysmorphol (1996) 0.75
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling. Clin Genet (1995) 0.75
Genetic analysis of fetal nucleated red blood cells from CVS washings. Prenat Diagn (2000) 0.75
The importance of DNA analysis in sporadic aniridia. Acta Ophthalmol (Copenh) (1993) 0.75
[Genetic counseling: should side issues become main issues?]. Ned Tijdschr Geneeskd (1997) 0.75
Flow cytometric detection of chromosome abnormalities by measuring centromeric index, DNA content, and DNA base composition. Anal Cell Pathol (1994) 0.75