Published in Genet Test Mol Biomarkers on February 01, 2010
The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome. Behav Brain Res (2010) 0.91
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. NPJ Genom Med (2016) 0.75
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24
Reintubation in the ICU following cardiac surgery: is it more difficult than first-time intubation in the operating room?: A prospective observational study. Eur J Anaesthesiol (2020) 1.91
Upper extremity arteriovenous fistulas induce modest hemodynamic effect on the in situ internal thoracic artery. Ann Thorac Surg (2006) 1.56
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Dietary restriction-resistant human tumors harboring the PIK3CA-activating mutation H1047R are sensitive to metformin. Oncotarget (2013) 1.01
A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. Genet Test (2007) 0.98
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97
Malignant mesothelioma: new insights into a rare disease. Cancer Treat Rev (2012) 0.96
A large deletion in the CFTR gene in CBAVD. Genet Med (2006) 0.93
Adherence of Irish general practitioners to European guidelines for acute low back pain: a prospective pilot study. Eur J Pain (2006) 0.91
Sickle Cell Disease. N Engl J Med (2017) 0.88
Brain metastases from renal cell carcinoma. Should we change the current standard? Cancer Treat Rev (2011) 0.85
Role of nitric oxide and peroxynitrite anion in lung injury induced by intestinal ischemia-reperfusion in rats. World J Gastroenterol (2003) 0.85
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available. Prenat Diagn (2007) 0.84
Further delineation of the critical region for the 9p-duplication syndrome. Am J Med Genet A (2009) 0.83
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod (2002) 0.83
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med (2006) 0.82
Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol (2002) 0.82
Folate intake and the risk of neural tube defects: an estimation of dose-response. Epidemiology (2003) 0.82
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet (2007) 0.82
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod (2002) 0.82
Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. J Inherit Metab Dis (2006) 0.82
Berberine ameliorates COX-2 expression in rat small intestinal mucosa partially through PPARγ pathway during acute endotoxemia. Int Immunopharmacol (2011) 0.81
Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis. Fetal Diagn Ther (2006) 0.81
Detection of the saa gene in verotoxin-producing Escherichia coli from ruminants. J Vet Diagn Invest (2005) 0.81
[Melatonin improves vascular reactivity of endotoxemia rats]. Sheng Li Xue Bao (2005) 0.80
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics (2010) 0.80
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. Fetal Diagn Ther (2007) 0.79
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A (2011) 0.79
Protection of carbon monoxide-releasing molecule against lung injury induced by limb ischemia-reperfusion. Chin J Traumatol (2009) 0.79
[Hydrogen sulfide reduces lipopolysaccharide-induced acute lung injury and inhibits expression of phosphorylated p38 MAPK in rats]. Sheng Li Xue Bao (2012) 0.78
Identification of a novel human zinc finger protein gene ZNF313. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) (2003) 0.78
Sulfur dioxide attenuates LPS-induced acute lung injury via enhancing polymorphonuclear neutrophil apoptosis. Acta Pharmacol Sin (2012) 0.77
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A (2010) 0.76
A survey of Salmonella spp and Campylobacter spp in dairy goat faeces and bulk tank milk in the Murcia region of Spain. Ir Vet J (2006) 0.75
Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol (2007) 0.75
[Relationship between hydrogen sulfide and myocardial damage in endotoxemic rats]. Sheng Li Xue Bao (2007) 0.75
Adjuvant treatment in resected non-small cell lung cancer: current and future issues. Crit Rev Oncol Hematol (2013) 0.75
Genomic relationships among diploid and polyploid species of the genus Eryngium L. using genomic in situ hybridization. Genome (2010) 0.75
Further cytogenetical studies on diploid and polyploid species of Eryngium L. (Saniculoideae, Apiaceae) from Argentina. Hereditas (2004) 0.75
Prenatal screening for chromosome abnormalities in a region with no access to termination of pregnancy. Prenat Diagn (2009) 0.75
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Eur J Med Genet (2008) 0.75
A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet Test Mol Biomarkers (2009) 0.75
[Administration of hydrogen sulfide intraperitoneally reverses the hyporesponsiveness of rat pulmonary artery induced by lipopolysaccharide and its relationship with carbon monoxide]. Zhongguo Wei Zhong Bing Ji Jiu Yi Xue (2011) 0.75
Endogenous carbon monoxide attenuates lung injury following ischemia-reperfusion in the hind limbs of rats. Sheng Li Xue Bao (2002) 0.75
Genetic testing and individual rights. Suffolk Univ Law Rev (1993) 0.75
Evolution of morphological traits in Verbenaceae. Am J Bot (2012) 0.75
Evaluation of the potential role of a new mutation in mabA in modifying the response of Mycobacterium tuberculosis to isoniazid. Tuberculosis (Edinb) (2013) 0.75
Applicability of alpha-fetoprotein-concanavalin A (AFP-ConA) binding to discriminate between germinal or hepatic origin of AFP in germ cell tumour patients during chemotherapy or follow-up. Clin Chem Lab Med (2007) 0.75
The "new" genetics: from research to reality. Suffolk Univ Law Rev (1993) 0.75
Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion. Genet Test (2006) 0.75
Genetic counseling, the ophthalmologist and the law. Metab Ophthalmol (1977) 0.75