4.1 Article

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Role of G(olf) in familial and sporadic adult-onset primary dystonia

Satya R. Vemula et al.

HUMAN MOLECULAR GENETICS (2013)

Article Genetics & Heredity

Mutations in GNAL cause primary torsion dystonia

Tania Fuchs et al.

NATURE GENETICS (2013)

Article Genetics & Heredity

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Gavin Charlesworth et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Clinical Neurology

Mutations in CIZ1 cause adult onset primary cervical dystonia

Jianfeng Xiao et al.

ANNALS OF NEUROLOGY (2012)

Article Endocrinology & Metabolism

Effects of gender on gene expression in the blood of ischemic stroke patients

Yingfang Tian et al.

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2012)

Review Clinical Neurology

Neurodegeneration in Ataxia Telangiectasia: What Is New? What Is Evident?

Franziska Hoche et al.

NEUROPEDIATRICS (2012)

Article Genetics & Heredity

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Santhosh Girirajan et al.

PLOS GENETICS (2011)

Article Cell Biology

Decoding the function of nuclear long non-coding RNAs

Ling-Ling Chen et al.

CURRENT OPINION IN CELL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

Phenotypic variability and genetic susceptibility to genomic disorders

Santhosh Girirajan et al.

HUMAN MOLECULAR GENETICS (2010)

Article Genetics & Heredity

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

Nicole Calakos et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

A G1 Checkpoint Mediated by the Retinoblastoma Protein That Is Dispensable in Terminal Differentiation but Essential for Senescence

Srikanth Talluri et al.

MOLECULAR AND CELLULAR BIOLOGY (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Article Clinical Neurology

Novel THAP1 sequence variants in primary dystonia

J. Xiao et al.

NEUROLOGY (2010)

Article Biochemistry & Molecular Biology

ATM activates p53 by regulating MDM2 oligomerization and E3 processivity

Qian Cheng et al.

EMBO JOURNAL (2009)

Article Endocrinology & Metabolism

A Large-Scale Genome-Wide Linkage Analysis to Map Loci Linked to Stature in Chinese Population

Xiumei Hong et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Medicine, General & Internal

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Heather C. Mefford et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Psychiatry

Risk of malignancy in patients with schizophrenia or bipolar disorder - Nested case-control study

Julia Hippisley-Cox et al.

ARCHIVES OF GENERAL PSYCHIATRY (2007)

Article Biochemical Research Methods

Clustal W and clustal X version 2.0

M. A. Larkin et al.

BIOINFORMATICS (2007)

Article Genetics & Heredity

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

Satoshi Makino et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Clinical Neurology

Deep brain stimulation of the internal globus pallidus for refractory tardive dystonia

Oren S. Cohen et al.

PARKINSONISM & RELATED DISORDERS (2007)

Article Medicine, General & Internal

Pallidal deep-brain stimulation in primary generalized or segmental dystonia

Andreas Kupsch et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Article Medicine, General & Internal

Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia

M Vidailhet et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

Article Cell Biology

Ciz1 promotes mammalian DNA replication

D Coverley et al.

JOURNAL OF CELL SCIENCE (2005)

Article Biochemistry & Molecular Biology

A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling

YH Koh et al.

HUMAN MOLECULAR GENETICS (2004)

Article Engineering, Biomedical

Deep brain stimulation for dystonia

M Tagliati et al.

EXPERT REVIEW OF MEDICAL DEVICES (2004)

Article Biochemistry & Molecular Biology

SIFT: predicting amino acid changes that affect protein function

PC Ng et al.

NUCLEIC ACIDS RESEARCH (2003)