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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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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Molecular psychiatry, 2014-03, Vol.19 (3), p.368-379

2014

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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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A functional network module for Smith–Magenis syndrome

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

2009

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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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Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

BioMed research international, 2020, Vol.2020, p.1789514-7

2020

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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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The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

BioMed research international, 2019-01, Vol.2019, p.9797104-11

2019

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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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Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

BioMed research international, 2016-01, Vol.2016, p.5467083-9

2016

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Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

BioMed research international, 2017-01, Vol.2017, p.2432957-10

2017

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Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

BioMed research international, 2015-01, Vol.2015, p.960404-7

2015

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Tocotrienol-rich fraction prevents cell cycle arrest and elongates telomere length in senescent human diploid fibroblasts

BioMed research international, 2011-01, Vol.2011 (1), p.506171

2011

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Drug features that contribute to the activity of quinolones against mammalian topoisomerase II and cultured cells: correlation between enhancement of enzyme-mediated DNA cleavage in vitro and cytotoxic potential

Antimicrobial Agents and Chemotherapy, 1993-10, Vol.37 (10), p.2179-2186

1993

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APOE Gene Polymorphism and Risk of Coronary Stenosis in Pakistani Population

BioMed research international, 2015-01, Vol.2015, p.587465-5

2015

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Rapid generation of somatic liver knockouts using multiplex CRISPR/Cas9 editing

Journal of hepatology, 2018-04, Vol.68, p.S128

2018

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THU-008 - Rapid generation of somatic liver knockouts using multiplex CRISPR/Cas9 editing

Journal of hepatology, 2018-04, Vol.68, p.S128-S128

2018

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Correction: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

PloS one, 2014-11, Vol.9 (11), p.e114092

2014

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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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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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Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13

Cytogenetics and cell genetics, 1998, Vol.81 (1), p.79

1998

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Reducing the Complexity of Complex Gene Coexpression Networks by Coupling Multiweighted Labeling with Topological Analysis

BioMed research international, 2013-01, Vol.2013, p.676328-9

2013

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Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

BioMed research international, 2013-01, Vol.2013, p.843027-5

2013

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

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

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

A functional network module for Smith–Magenis syndrome

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

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

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

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

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

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

Tocotrienol-rich fraction prevents cell cycle arrest and elongates telomere length in senescent human diploid fibroblasts

Drug features that contribute to the activity of quinolones against mammalian topoisomerase II and cultured cells: correlation between enhancement of enzyme-mediated DNA cleavage in vitro and cytotoxic potential

APOE Gene Polymorphism and Risk of Coronary Stenosis in Pakistani Population

Rapid generation of somatic liver knockouts using multiplex CRISPR/Cas9 editing

THU-008 - Rapid generation of somatic liver knockouts using multiplex CRISPR/Cas9 editing

Correction: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

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

HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers

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

Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13

Reducing the Complexity of Complex Gene Coexpression Networks by Coupling Multiweighted Labeling with Topological Analysis

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

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