Results 41 to 50 of about 2,262,684 (231)
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Transient acquired Fanconi syndrome with unusual and rare aetiologies: A case study of two dogs
Veterinární Medicína, 2020 The acquired form of Fanconi syndrome is seldom identified in dogs; those cases that have been reported have been secondary to hepatic copper toxicosis, primary hypoparathyroidism, ingestion of chicken jerky treats, exposure to ethylene glycol, or ...
Ju-Yong Park +3 more
doaj +1 more source
Invasive Pneumococcal Disease Associated with Fanconi-Like Syndrome
European Journal of Case Reports in Internal Medicine, 2019 Acquired causes of Fanconi syndrome in adults are usually due to drugs, toxins or paraproteinaemias. Infectious causes are rarely described. We report a case of invasive pneumococcal disease in a patient who developed a Fanconi-like syndrome during the ...
Jade Xiao Jue Soh +2 more
doaj +1 more source
The DNA damage response acts as a safeguardagainst harmful DNA–RNA hybrids ofdifferent origins [PDF]
, 2019 Despite playing physiological roles in specific situations, DNA–RNA hybrids threat genome integrity. To investigate how cells do counteract spontaneous DNA–RNA hybrids, here we screen an siRNA library covering 240 human DNA damage response (DDR) genes ...
Aguilera López, Andrés +5 more
core +1 more source
, 2009 Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core +1 more source
Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report
Brazilian Journal of Anesthesiology, 2014 Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited.
Zafer Dogan +4 more
doaj +3 more sources
, 2014 The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha +129 more
core +1 more source
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis
The Turkish Journal of Pediatrics, 2017 Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2).
Tuğba Taştemel-Öztürk +3 more
doaj +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
Kidney Medicine, 2019 Light chain proximal tubulopathy is a rare M-proteinemia–related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape.
Ayami Ino +8 more
doaj +1 more source