Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

1986 • 168 citations

Patterns of DNA replication of human chromosomes. II. Replication map and replication model.

1982 • 132 citations

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

1986 • 130 citations

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13

1984 • 118 citations

Report of the committee on the genetic constitution of chromosome 17

1990 • 74 citations

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

1989 • 66 citations

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

1990 • 64 citations

Interstitial deletion of the short arm of chromosome 17

1984 • 50 citations

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

1990 • 50 citations

Microdeletion syndromes, balanced translocations, and gene mapping.

1988 • 48 citations

Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man.

1989 • 48 citations

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

1988 • 34 citations

Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature

1990 • 23 citations

Report of the committee on the genetic constitution of chromosome 17

1989 • 18 citations

Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.

1990 • 18 citations

Interstitial deletion of 17p11.2: case report and review.

1988 • 15 citations

Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.

1989 • 8 citations

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