Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

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

1988 • 20,341 citations

A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES

1971 • 5,049 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

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

1992 • 497 citations

Mechanical Complications in Shunts

1991 • 417 citations

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

1986 • 387 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

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

1991 • 342 citations

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

1992 • 280 citations

Amplification of a hightly polymorphic VNTR segment by the polymerase chain reaction

1989 • 244 citations

Loss of Human Genetic Markers in Man-Chinese Hamster Somatic Cell Hybrids

1971 • 179 citations

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci

1990 • 152 citations

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

1986 • 130 citations

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

1993 • 114 citations

Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1

1993 • 107 citations

Review Article: Nerve Conduction Studies in Infants and Children

1986 • 104 citations

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

1991 • 95 citations

A genetic map of human chromosome 17p

1990 • 68 citations

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome)

1990 • 60 citations

Interstitial deletion of the short arm of chromosome 17

1984 • 50 citations

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

1992 • 40 citations

Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci

1990 • 40 citations

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

1988 • 34 citations

A familial interstitial deletion of the long arm of chromosome 21

1990 • 31 citations

Mosaicism for deletion 17p11.2 in a boy with the Smith‐Magenis syndrome

1993 • 27 citations

Familial retinoblastoma (mother and son) with 13q14 deletion

1987 • 25 citations

Proximal interstitial deletion of 7q: A case report and review of the literature

1990 • 23 citations

Deletion of 13q in two patients with retinoblastoma, one probably due to 13q- mosaicism in the mother

1982 • 21 citations

Transmission of ring 14 chromosome from mother to two sons

1990 • 16 citations

Partial trisomy of distal 8q derived from mother with mosaic 8q23.3?24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I

1989 • 15 citations

Hereditary retinoblastoma and 13q– mosaicism

1984 • 15 citations

Vitamins to prevent neural tube defects

1991 • 11 citations