A clinical and molecular study of mosaicism for trisomy 17

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

TRISOMY IN MAN

1984 • 652 citations

A Comprehensive Human Linkage Map with Centimorgan Density

1994 • 547 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1986 • 387 citations

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1991 • 342 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

1994 • 162 citations

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

1986 • 130 citations

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

1992 • 130 citations

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

1984 • 118 citations

Nerve conduction studies in Charcot‐Marie‐Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1993 • 114 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

Chromosome mosaicism in 6,000 amniocenteses

1989 • 61 citations

Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann‐de Lange syndrome

1993 • 40 citations

46,XY/47,XY,+17 mosaicism in a newborn with severe malformations

1982 • 19 citations

Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn

1991 • 18 citations

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1993 • 10 citations