The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances

Identification and characterization of a spinal muscular atrophy-determining gene

1995 • 3,722 citations

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

1991 • 1,293 citations

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1995 • 1,197 citations

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1992 • 1,126 citations

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1995 • 976 citations

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

1993 • 906 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

1995 • 604 citations

A Comprehensive Human Linkage Map with Centimorgan Density

1994 • 547 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

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

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

1996 • 319 citations

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

1994 • 316 citations

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

1994 • 313 citations

THE MOLECULAR GENETICS OF HUMAN HEMOGLOBINS

1980 • 306 citations

Evolution of the master Alu gene(s)

1991 • 299 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 recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

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

1992 • 280 citations

Microfilament Structure and Function in the Cortical Cytoskeleton

1991 • 276 citations

Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1996 • 265 citations

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

1995 • 236 citations

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

1987 • 228 citations

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

1995 • 222 citations

Molecular cloning and expression of an adenosine A2b receptor from human brain

1992 • 201 citations

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

1995 • 168 citations

Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization

1993 • 168 citations

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

1993 • 160 citations

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies.

1992 • 144 citations

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

1990 • 132 citations

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

1986 • 130 citations

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

1996 • 126 citations

Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia

1993 • 125 citations

Serine Hydroxymethyltransferase

1982 • 116 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

Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

1997 • 105 citations

Thalassemia Revisited

1982 • 96 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

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

The Alu family repeat promoter has a tRNA-like bipartite structure

1983 • 83 citations

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

1994 • 72 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

Homozygous hereditary C3 deficiency due to a partial gene deletion.

1992 • 68 citations

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

1993 • 67 citations

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

1993 • 67 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

Chromosome assignment, biochemical and immunological studies on a human aldehyde dehydrogenase, ALDH3

1985 • 57 citations

In the eye of the beholder: Visual pigments and inherited variation in human vision

1994 • 53 citations

Interstitial deletion of the short arm of chromosome 17

1984 • 50 citations

A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene

1994 • 49 citations

Ophthalmic Manifestations of Smith-Magenis Syndrome

1996 • 48 citations

DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

1991 • 46 citations

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

1991 • 45 citations

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

1993 • 43 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

Abnormal arrangements in the alpha- and gamma-globin gene clusters in a relatively large group of Japanese newborns.

1986 • 40 citations

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

1995 • 37 citations

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

1988 • 34 citations

Clinical and Chromosome Studies of Three Patients with Smith‐Magenis Syndrome

1991 • 33 citations

The human homologue of the murine <i>Llglh </i>gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

1996 • 33 citations

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

1994 • 31 citations

Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter → 5p 15.3)

1994 • 30 citations

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

1991 • 29 citations

Diagnostic hand anomalies in Smith–Magenis syndrome: Four new patients with del (17)(p11.2p11.2)

1991 • 28 citations

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

1995 • 28 citations

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

1995 • 27 citations

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

1993 • 27 citations

Mosaicism for del(17) (p11.2p11.2) underlying the Smith-Magenis syndrome

1996 • 26 citations

Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.

1995 • 25 citations

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

1993 • 24 citations

Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2–p12 by FISH and PCR screening of somatic cell hybrids

1995 • 20 citations

Alpha chain and gamma chain abnormal hemoglobins in newborn babies: Structural and genetic aspects

1983 • 20 citations

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

1993 • 16 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

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

1995 • 15 citations

Complementary duplication and deletion of 17 (pcen→p11.2): A family with a supernumerary chromosome comprised of an interstitially deleted segment

1992 • 15 citations

Four categories of gamma-globin gene triplications: DNA sequence comparison of low G gamma and high G gamma triplications

1988 • 14 citations

Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men

1995 • 11 citations

Four categories of gamma-globin gene triplications: DNA sequence comparison of low G gamma and high G gamma triplications

1988 • 11 citations

An additional case of deletion 17p11.2

1987 • 9 citations

In humans all U3 genes map to chromosome 17p12→p11, but in mouse the U3A and U3B genes are located on different chromosomes

1993 • 5 citations

The genetic connection: How to protect your family against hereditary disease, David Hendin and Joan Marks. William Morrow and Co, New York, 1978, 251 pp, $8.95

1978 • 1 citations