Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

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

1988 • 20,341 citations

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

1984 • 2,847 citations

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

1990 • 1,471 citations

Von Recklinghausen Neurofibromatosis

1981 • 1,336 citations

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

1991 • 1,293 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 citations

Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

1987 • 691 citations

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1991 • 587 citations

Uniparental disomy as a mechanism for human genetic disease.

1988 • 477 citations

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

1985 • 456 citations

A de novo Alu insertion results in neurofibromatosis type 1

1991 • 448 citations

Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen

1882 • 388 citations

Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines

1984 • 355 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 citations

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

1992 • 280 citations

Precise localization of NF1 to 17q11.2 by balanced translocation.

1989 • 216 citations

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1989 • 198 citations

The Peroneal Type of Progressive Muscular Atrophy

1888 • 189 citations

De-novo mutation in hereditary motor and sensory neuropathy type I

1992 • 160 citations

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1992 • 151 citations

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

1989 • 137 citations

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1990 • 91 citations

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

1991 • 69 citations

A genetic map of human chromosome 17p

1990 • 68 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

Genetic analysis of NF1: Identification of close flanking markers on chromosome 17

1987 • 55 citations

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

1990 • 51 citations

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

1990 • 50 citations

The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.

1989 • 47 citations

The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin.

1991 • 45 citations

Tightly linked markers for the neurofibromatosis type 1 gene

1987 • 39 citations

Of needles and haystacks: finding human disease genes by positional cloning.

1991 • 38 citations

Refined physical and genetic mapping of the NF1 region on chromosome 17.

1989 • 35 citations

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

1990 • 30 citations

Localization of a locus for Charcot-Marie-Tooth neuropathy type la (CMT1A) to chromosome 17

1990 • 27 citations

Peripheral neurofibromatosis and peroneal muscular atrophy

1981 • 19 citations

Neurofibromatosis, Charcot-Marie-Tooth disease, or both?

1989 • 16 citations

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17

1990 • 7 citations

Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia

1991 • 5 citations