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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

Broader (3)

Hair DiseasesMitochondrial DiseasesSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Disordered epigenetic regulation in MLL-related leukemia
Leukemias bearing rearrangements of chromosome 11q23 are of particular interest due to their unique clinical and biological… 
Highly Cited
2011
Highly Cited
2011
Obstetric outcome following cervical conization
ObjectiveThe purpose of the present study was to examine obstetric outcome of patients following conization and specifically the… 
Highly Cited
2007
Highly Cited
2007
A fluorescence spectroscopy study on the interactions of the TAT-PTD peptide with model lipid membranes.
Protein-transduction domains (PTDs) have been shown to translocate into and through the living cells in a rapid manner by an as… 
Highly Cited
2006
Highly Cited
2006
Approach for ochratoxin A fast screening in spices using clean-up tandem immunoassay columns with confirmation by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS).
Highly Cited
2005
Highly Cited
2005
Sensory abnormalities in unaffected relatives in familial adult-onset dystonia
Somatosensory abnormalities are found in adult-onset primary torsion dystonia (PTD). Therefore we assessed spatial discrimination… 
2005
2005
Race, genes and preterm delivery.
High rates of preterm delivery (PTD) among African Americans are the leading cause of excess infant mortality among African… 
Highly Cited
1998
Highly Cited
1998
Detection of unique ALL1 (MLL) fusion transcripts in normal human bone marrow and blood: distinct origin of normal versus leukemic ALL1 fusion transcripts.
The partial tandem duplication (PTD) of ALL1 (MLL) is one of the more common molecular abnormalities in adult de novo acute… 
Highly Cited
1992
Highly Cited
1992
Diencephalic lesions, learning impairments, and intact retrograde memory following acute thiamine deficiency in the rat
Highly Cited
1974
Highly Cited
1974
Retraction of F Pili
The disappearance of F pili on Escherichia coli cells in the presence of 10−2 M NaCN was studied by electron microscopy and serum… 
Highly Cited
1970
Highly Cited
1970
Scanning electron microscopy of normal and abnormal hair shafts.
Normal hair and hair from patients with pili annulati, pili torti, trichorrhexis nodosa, and monilethrix have been examined using… 
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