Published in Gene on October 20, 2011
PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis. Clin Cancer Res (2014) 1.46
Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. Respir Res (2014) 1.06
Mutation of Plekha7 attenuates salt-sensitive hypertension in the rat. Proc Natl Acad Sci U S A (2014) 1.01
Correlation profiling of brain sub-cellular proteomes reveals co-assembly of synaptic proteins and subcellular distribution. Sci Rep (2017) 0.75
Plasma adiponectin plays an important role in improving insulin resistance with glimepiride in elderly type 2 diabetic subjects. Diabetes Care (2003) 2.71
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet (2010) 1.35
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain (2013) 1.17
Successful management of bleeding duodenal varices by endoscopic variceal ligation and balloon-occluded retrograde transvenous obliteration. Gastrointest Endosc (2003) 1.04
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. Am J Med Genet A (2004) 0.87
Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome. Am J Med Genet A (2006) 0.84
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. J Biochem (2012) 0.84
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter). Am J Med Genet A (2011) 0.84
MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A (2011) 0.83
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations. Nucleosides Nucleotides Nucleic Acids (2011) 0.82
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. Am J Med Genet A (2014) 0.82
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation. Am J Med Genet A (2010) 0.81
Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. J Pediatr Surg (2002) 0.81
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. Am J Med Genet A (2014) 0.80
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. J Pediatr Surg (2005) 0.79
Metastatic low-grade endometrial stromal sarcoma of the sigmoid colon three years after hysterectomy. World J Gastroenterol (2005) 0.79
Identification of suberization-associated anionic peroxidase as a possible allergenic protein from tomato. Biosci Biotechnol Biochem (2003) 0.79
Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. Nucleosides Nucleotides Nucleic Acids (2004) 0.77
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol Genet Metab (2006) 0.77
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. Nucleosides Nucleotides Nucleic Acids (2008) 0.76
Mowat-Wilson syndrome affecting 3 siblings. J Child Neurol (2008) 0.76
Urinary stone analysis in a patient with hyperuricemia to determine the mechanism of stone formation. Nucleosides Nucleotides Nucleic Acids (2011) 0.76
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy. Eur J Pediatr (2007) 0.76
[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. No To Hattatsu (2005) 0.76
Establishment of anti-rat-Cu,Zn-superoxide dismutase monoclonal antibodies applied to a highly sensitive immunoassay and immunohistochemistry system. Hybrid Hybridomics (2004) 0.75
Extracellular superoxide dismutase and glomerular mesangial cells: its production and regulation. FEBS Lett (2002) 0.75
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report]. Rinsho Shinkeigaku (2014) 0.75
[Function of zfhx1 family and molecular genetic analysis of its deficiency]. Seikagaku (2003) 0.75
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2. Am J Med Genet A (2014) 0.75
[Occurrence of upper gastrointestinal tract disease after Helicobacter pylori eradication]. Nihon Rinsho (2002) 0.75
Proteomic analysis to examine the role of matrix proteins in a gouty tophus from a patient with recurrent gout. Nucleosides Nucleotides Nucleic Acids (2014) 0.75
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. Nucleosides Nucleotides Nucleic Acids (2014) 0.75
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. Congenit Anom (Kyoto) (2005) 0.75
[Extracellular-superoxide dismutase production in mesangial cell growing in extracellular matrix]. Nihon Jinzo Gakkai Shi (2005) 0.75