Pili torti-deafness syndrome

Known as: Bjornstad syndrome, Pili torti and nerve deafness, Pili torti-sensorineural hearing loss 
 
National Institutes of Health

Related topics

Related topics

9 relations
AlopeciaAnhidrosisAutosomal recessive inheritanceBCS1L gene
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Broader (3)

Hair DiseasesMitochondrial DiseasesSensorineural Hearing Loss (disorder)

Papers overview

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Highly Cited
2013
Highly Cited
2013
Mutations in GNAL cause primary torsion dystonia
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular… (More)
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Highly Cited
2012
Highly Cited
2012
A novel hierarchical prognostic model of AML solely based on molecular mutations.
The karyotype is so far the most important prognostic parameter in acute myeloid leukemia (AML). Molecular mutations have been… (More)
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Highly Cited
2012
Highly Cited
2012
Highly active antiretroviral therapy and adverse birth outcomes among HIV-infected women in Botswana.
BACKGROUND It is unknown whether adverse birth outcomes are associated with maternal highly active antiretroviral therapy (HAART… (More)
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Highly Cited
2009
Highly Cited
2009
Efficient siRNA Delivery into Primary Cells by Peptide Transduction-dsRNA Binding Domain (PTD-DRBD) Fusion Protein
RNA interference (RNAi) induced by short interfering RNA (siRNA) allows for discovery research and large-scale screening; however… (More)
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Highly Cited
2008
Highly Cited
2008
Prospective assessment of lymphatic dissemination in endometrial cancer: a paradigm shift in surgical staging.
OBJECTIVE To prospectively assess pelvic and para-aortic lymph node metastases in endometrial cancer with lymphatic dissemination… (More)
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Highly Cited
2008
Highly Cited
2008
Pattern of perceived stress and anxiety in pregnancy predicts preterm birth.
OBJECTIVE To determine whether the pattern of prenatal stress, as compared to prenatal stress assessed at a single gestational… (More)
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Highly Cited
2006
Highly Cited
2006
Ray tracing with PO/PTD for RCS modeling of large complex objects
The present paper deals with a new efficient approach in order to assess the simulation of scattered fields from arbitrary… (More)
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Highly Cited
2005
Highly Cited
2005
Spring-mass running: simple approximate solution and application to gait stability.
The planar spring-mass model is frequently used to describe bouncing gaits (running, hopping, trotting, galloping) in animal and… (More)
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Highly Cited
2005
Highly Cited
2005
Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study.
PURPOSE To test the prognostic significance of ETS-related gene (ERG) expression in cytogenetically normal primary acute myeloid… (More)
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Highly Cited
2002
Highly Cited
2002
In Vivo Delivery of a Bcl-xL Fusion Protein Containing the TAT Protein Transduction Domain Protects against Ischemic Brain Injury and Neuronal Apoptosis.
Bcl-xL is a well characterized death-suppressing molecule of the Bcl-2 family. Bcl-xL is expressed in embryonic and adult neurons… (More)
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