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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Human mutation, 2020-09, Vol.41 (9), p.1469-1487

2020

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

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Mutations in RAI1 associated with Smith-Magenis syndrome

Nature genetics, 2003-04, Vol.33 (4), p.466-468

2003

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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Genetics in medicine, 2006-07, Vol.8 (7), p.417-427

2006

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A functional network module for Smith–Magenis syndrome

Clinical genetics, 2009-04, Vol.75 (4), p.364-374

2009

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Refinement of the Smith–Magenis syndrome critical region to ∼950 kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Molecular genetics and metabolism, 2003-06, Vol.79 (2), p.134-141

2003

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Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits

Journal of Intellectual Disability Research, 2012-10, Vol.56 (10), p.996-1007

2012

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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Clinical genetics, 2007-07, Vol.72 (1), p.47-58

2007

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

American journal of human genetics, 1996-05, Vol.58 (5), p.998-1007

1996

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Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene

American journal of medical genetics, 2005-01, Vol.132A (3), p.278-282

2005

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Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase. II. As the primary cellular target for the quinolone CP-115,953 in yeast

The Journal of biological chemistry, 1992-07, Vol.267 (19), p.13150-13153

1992

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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Genetics in medicine, 2002-05, Vol.4 (3), p.118-125

2002

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Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population

Community genetics, 2005-01, Vol.8 (3), p.173-179

2005

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Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs

Genes chromosomes & cancer, 2001-01, Vol.30 (1), p.38-47

2001

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Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment

The Journal of biological chemistry, 1998-12, Vol.273 (50), p.33540-33547

1998

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Short Report: 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Clinical genetics, 2007-07, Vol.72 (1), p.47

2007

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Original Article: Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540

2007

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HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers

Blood, 2000-04, Vol.95 (7), p.2453-2455

2000

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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR

Genetic testing, 2008-03, Vol.12 (1), p.67-73

2008

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Brachydactyly A1: new relatives for old families?

Journal of genetics, 2005-08, Vol.84 (2), p.95-98

2005

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A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine

The Journal of biological chemistry, 1995-01, Vol.270 (4), p.1913-1920

1995

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Quinolones Share a Common Interaction Domain on Topoisomerase II with Other DNA Cleavage-Enhancing Antineoplastic Drugs

Biochemistry (Easton), 1997-03, Vol.36 (10), p.2919-2924

1997

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Overexpression of a Truncated Human Topoisomerase III Partially Corrects Multiple Aspects of the Ataxia-Telangiectasia Phenotype

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (9), p.4538-4542

1997

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Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Mutations in RAI1 associated with Smith-Magenis syndrome

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

A functional network module for Smith–Magenis syndrome

Refinement of the Smith–Magenis syndrome critical region to ∼950 kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

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

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene

Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase. II. As the primary cellular target for the quinolone CP-115,953 in yeast

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population

Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs

Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment

Short Report: 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Original Article: Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR

Brachydactyly A1: new relatives for old families?

A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine

Quinolones Share a Common Interaction Domain on Topoisomerase II with Other DNA Cleavage-Enhancing Antineoplastic Drugs

Overexpression of a Truncated Human Topoisomerase III Partially Corrects Multiple Aspects of the Ataxia-Telangiectasia Phenotype

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