Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 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

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

1995 • 291 citations

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

1995 • 222 citations

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

1986 • 130 citations

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

1995 • 112 citations

The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome

1994 • 106 citations

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

1993 • 89 citations

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

1995 • 69 citations

Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

1994 • 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

Eye abnormalities in the Smith‐Magenis contiguous gene deletion syndrome

1993 • 58 citations

Interstitial deletion of the short arm of chromosome 17

1984 • 50 citations

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1994 • 49 citations

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

1995 • 46 citations

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

1991 • 45 citations

Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome

1993 • 43 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

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1994 • 37 citations

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

1994 • 35 citations

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

1988 • 34 citations

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

1994 • 31 citations

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction

1991 • 29 citations

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

1993 • 27 citations

Smith‐Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

1995 • 27 citations

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome

1993 • 24 citations

Molecular Basis of Charcot-Marie-Tooth Disease Type 1A: Gene Dosage as a Novel Mechanism for a Common Autosomal Dominant Condition

1993 • 23 citations

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

1993 • 16 citations

Constitutional Interstitial Deletion of 17(p11.2) (Smith-Magenis Syndrome): A Clinically Recognizable Microdeletion Syndrome

1993 • 16 citations

Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13

1995 • 15 citations

DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

1994 • 15 citations

An additional case of deletion 17p11.2

1987 • 9 citations

Deleted Work

1955 • 0 citations