Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

1987 • 875 citations

Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase.

1982 • 370 citations

An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome

1993 • 281 citations

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1995 • 226 citations

Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13

1996 • 152 citations

True and False Positive Peaks in Genomewide Scans: Applications of Length-Biased Sampling to Linkage Mapping

1997 • 140 citations

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency

1979 • 123 citations

ICF syndrome: a new case and review of the literature

1994 • 111 citations

The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene.

1994 • 111 citations

Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping

1997 • 96 citations

Selective Somatic Pairing and Fragility at 1q12 in a Boy with Common Variable Immuno Deficiency

1978 • 74 citations

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

1995 • 57 citations

ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome

1995 • 57 citations

Homozygosity and Linkage‐Disequilibrium Mapping of the Urofacial (Ochoa) Syndrome Gene to a 1‐cM Interval on Chromosome 10q23‐q24

1997 • 47 citations

Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis

1997 • 37 citations

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome

1995 • 36 citations

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome

1987 • 27 citations

Human Genetic Map. Genome Maps V. Wall chart

1994 • 16 citations