Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

1989 • 3,180 citations

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

2013 • 2,504 citations

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

Rapid transfer of DNA from agarose gels to nylon membranes

1985 • 1,810 citations

Separation of Large DNA Molecules by Contour-Clamped Homogeneous Electric Fields

1986 • 1,525 citations

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

1990 • 1,471 citations

The sex-determining region of the human Y chromosome encodes a finger protein

1987 • 847 citations

Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3)

1990 • 597 citations

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

1989 • 448 citations

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1985 • 390 citations

Incontinentia Pigmenti

1976 • 376 citations

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

1985 • 368 citations

[15] Isolation of genomic DNA

1987 • 302 citations

Cosmid vectors for rapid genomic walking, restriction mapping, and gene transfer.

1987 • 222 citations

Reverse genetics and human disease

1986 • 196 citations

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes

1982 • 191 citations

X-linked dominant inherited diseases with lethality in hemizygous males

1983 • 163 citations

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

1989 • 153 citations

Deletion and amplification of the HGPRT locus in Chinese hamster cells.

1983 • 147 citations

A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

1988 • 143 citations

Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1

1987 • 120 citations

The gene for incontinentia pigmenti is assigned to Xq28

1989 • 112 citations

Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

1990 • 107 citations

Mapping of a gene determining tuberous sclerosis to human chromosome 11q1411q23

1990 • 105 citations

Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybrid

1989 • 100 citations

Two cases of X/autosome translocation in females with incontinentia pigmenti

1985 • 88 citations

A method for generating hybrids containing nonselected fragments of human chromosomes

1989 • 86 citations

Evidence for genetic heterogeneity in tuberous sclerosis.

1989 • 80 citations

Molecular Analysis of a Constitutional X-Autosome Translocation in a Female with Muscular Dystrophy

1987 • 78 citations

Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.

1989 • 69 citations

Yeast artificial chromosomes with 200- to 800-kilobase inserts of human DNA containing HLA, V kappa, 5S, and Xq24-Xq28 sequences.

1989 • 67 citations

Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

1987 • 64 citations

A primary genetic map of the pericentromeric region of the human X chromosome

1988 • 59 citations

Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.

1985 • 49 citations

Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis

1988 • 48 citations

Deletion and Amplification of the HGPRT Locus in Chinese Hamster Cells

1983 • 46 citations

Molecular heterogeneity of translocations associated with muscular dystrophy

1987 • 43 citations

Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

1985 • 42 citations

Incontinentia pigmenti and X-autosome translocations

1989 • 39 citations

A gene for Wilms tumour?

1990 • 32 citations

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.

1989 • 29 citations

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.

1985 • 28 citations

Clones from an 840-kb fragment containing the 5′ region of the DMD locus enriched by pulsed field gel electrophoresis

1988 • 17 citations

Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.

1989 • 11 citations

A somatic cell hybrid panel to facilitate identification of DNA sequences in the vicinity of the incontinentia pigmenti locus (IP1)

1989 • 9 citations