Published in Hum Mutat on January 01, 2007
Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping. J Thromb Haemost (2011) 0.84
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC Med Genet (2008) 0.81
The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics. Blood (2014) 0.76
Clinical utility gene card for: haemophilia A. Eur J Hum Genet (2011) 0.75
Long-term treatment course of a patient with mild haemophilia A who developed a high titre factor VIII inhibitor. Haemophilia (2014) 0.75
Preimplantation genetic diagnosis of hemophilia A. Thromb J (2016) 0.75
Authors' response to the letter of Nagirnaja et al., "Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?". Reprod Biomed Online (2016) 4.98
Risk factors for recurrent venous thromboembolism in the European collaborative paediatric database on cerebral venous thrombosis: a multicentre cohort study. Lancet Neurol (2007) 2.63
The ion channel polycystin-2 is required for left-right axis determination in mice. Curr Biol (2002) 2.36
Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl (2003) 2.29
Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study. Lancet (2002) 2.25
Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. Circulation (2010) 2.12
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med (2008) 2.12
Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site. J Chromatogr B Analyt Technol Biomed Life Sci (2008) 2.05
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
First report of prevalence of non-syndromic hereditary prosopagnosia (HPA). Am J Med Genet A (2006) 1.69
Recurrent thromboembolism in infants and children suffering from symptomatic neonatal arterial stroke: a prospective follow-up study. Stroke (2003) 1.58
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol (2010) 1.52
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke. Blood (2012) 1.52
Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study. Blood (2012) 1.51
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
Cerebral venous thrombosis in children: a multifactorial origin. Circulation (2003) 1.46
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J (2003) 1.42
Effects of primary and secondary prophylaxis on the clinical expression of joint damage in children with severe haemophilia A. Results of a multicenter non-concurrent cohort study. Thromb Haemost (2008) 1.41
Evaluation of tissue factor bearing microparticles as biomarkers in allogeneic stem-cell transplantation. Transplantation (2011) 1.39
Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies. Circulation (2008) 1.26
Renal venous thrombosis in neonates: prothrombotic risk factors and long-term follow-up. Blood (2004) 1.24
Post-thrombotic syndrome in children: a systematic review of frequency of occurrence, validity of outcome measures, and prognostic factors. Haematologica (2010) 1.20
Role of endogenous testosterone concentration in pediatric stroke. Ann Neurol (2009) 1.17
The deletion polymorphism in the angiotensin-converting enzyme gene is a moderate risk factor for venous thromboembolism. Thromb Haemost (2003) 1.09
Type and intensity of FVIII exposure on inhibitor development in PUPs with haemophilia A. A patient-level meta-analysis. Thromb Haemost (2015) 1.06
A systematic overview of the first pasteurised VWF/FVIII medicinal product, Haemate P/ Humate -P: history and clinical performance. Eur J Haematol Suppl (2008) 1.04
Functional activation of the formyl peptide receptor by a new endogenous ligand in human lung A549 cells. J Immunol (2002) 1.02
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet (2013) 1.00
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. Hum Mol Genet (2007) 0.99
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone (2005) 0.99
Anticoagulation in childhood-onset arterial ischemic stroke with non-moyamoya arteriopathy: findings from the Colorado and German (COAG) collaboration. Stroke (2009) 0.96
Inducible Cre/loxP recombination in the mouse proximal tubule. Nephron Exp Nephrol (2007) 0.96
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat (2005) 0.93
Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar. BMC Evol Biol (2014) 0.93
An anthropoid-specific segmental duplication on human chromosome 1q22. Genomics (2006) 0.93
Acquired haemophilia caused by non-haemophilic factor VIII gene variants. Ann Hematol (2010) 0.93
Recovery and composition of microparticles after snap-freezing depends on thawing temperature. Blood Coagul Fibrinolysis (2009) 0.91
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol (2003) 0.90
Health-related quality of life in children and adolescents with stroke, self-reports, and parent/proxies reports: cross-sectional investigation. Ann Neurol (2011) 0.90
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn (2002) 0.90
Familial elevated factor VIII in children with symptomatic venous thrombosis and post-thrombotic syndrome: results of a multicenter study. Arterioscler Thromb Vasc Biol (2006) 0.89
Long-term secondary prophylaxis in children, adolescents and young adults with von Willebrand disease. Results of a cohort study. Thromb Haemost (2011) 0.89
Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss. Mol Hum Reprod (2011) 0.89
Total tissue factor pathway inhibitor is an independent risk factor for symptomatic paediatric venous thromboembolism and stroke. Thromb Haemost (2004) 0.89
Long-term safety and efficacy data on childhood venous thrombosis treated with a low molecular weight heparin: an open-label pilot study of once-daily versus twice-daily enoxaparin administration. Haematologica (2006) 0.88
Isotype controls in phenotyping and quantification of microparticles: a major source of error and how to evade it. Thromb Res (2008) 0.87
Increased fasting total homocysteine plasma levels as a risk factor for thromboembolism in children. Thromb Haemost (2004) 0.87
Problematic clinical isolates of Pseudomonas aeruginosa from the university hospitals in Sofia, Bulgaria: current status of antimicrobial resistance and prevailing resistance mechanisms. J Med Microbiol (2007) 0.86
Venous thromboembolism in neonates and children. Best Pract Res Clin Haematol (2012) 0.86
Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet (2002) 0.86
Chromosomal alterations in osteosarcoma cell lines revealed by comparative genomic hybridization and multicolor karyotyping. Cancer Genet Cytogenet (2003) 0.86
The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. Blood (2010) 0.85
Southeast Asian diversity: first insights into the complex mtDNA structure of Laos. BMC Evol Biol (2011) 0.85
Paternal and maternal carriage of the annexin A5 M2 haplotype are equal risk factors for recurrent pregnancy loss: a pilot study. Fertil Steril (2012) 0.84
Annexin A5 interacts with polycystin-1 and interferes with the polycystin-1 stimulated recruitment of E-cadherin into adherens junctions. J Mol Biol (2007) 0.84
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. Hum Mutat (2002) 0.84
Outcome of kidney transplantation in patients with inherited thrombophilia: data of a prospective study. J Am Soc Nephrol (2003) 0.84
Role of N-methyl-D-aspartate receptors in the neuroprotective activation of extracellular signal-regulated kinase 1/2 by cisplatin. J Biol Chem (2003) 0.83
Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). Int J Cardiol (2006) 0.83
The factor V G1691A mutation is a risk for porencephaly: A case-control study. Ann Neurol (2004) 0.82
Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridization. Br J Haematol (2004) 0.82
Role of reduced ADAMTS13 in arterial ischemic stroke: a pediatric cohort study. Ann Neurol (2012) 0.82
Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk. Fertil Steril (2013) 0.82
Chromosomal evolution of the PKD1 gene family in primates. BMC Evol Biol (2008) 0.82
Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children--results of a multicenter studys. Haematologica (2007) 0.82
Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein. J Biol Chem (2010) 0.81
Lipoprotein (a) and other prothrombotic risk factors in Caucasian women with unexplained recurrent miscarriage. Results of a multicentre case-control study. Thromb Haemost (2005) 0.81
Proteomic and other mass spectrometry based "omics" biomarker discovery and validation in pediatric venous thromboembolism and arterial ischemic stroke: current state, unmet needs, and future directions. Proteomics Clin Appl (2014) 0.81
Livedoid vasculopathy in a pediatric patient with elevated lipoprotein(a) levels: prompt response to continuous low-molecular-weight heparin. Arch Dermatol (2010) 0.81
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Hum Mol Genet (2005) 0.80
Bleeding issues in neonates, infants and young children. Thromb Res (2009) 0.80
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neurosci Lett (2011) 0.80
A novel PCDH19 mutation inherited from an unaffected mother. Pediatr Neurol (2012) 0.80
Getting the proto-Pax by the tail. J Mol Evol (2006) 0.80
Frequent gains of the short arm of chromosome 9 in multiple myeloma with normal G-banded karyotype detected by comparative genomic hybridization. Am J Clin Pathol (2004) 0.79
Independent association of the M2/ANXA5 haplotype with recurrent pregnancy loss (RPL) in PCOS patients. Metabolism (2013) 0.79
Hereditary thrombophilic risk factors for recurrent pregnancy loss. J Community Genet (2010) 0.79
Safety and efficacy of low molecular weight heparins in children: a systematic review of the literature and meta-analysis of single-arm studies. Semin Thromb Hemost (2011) 0.79
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. Hum Mutat (2002) 0.79
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. Neurogenetics (2007) 0.79
Autosomal dominant polycystic kidney disease - clinical and genetic aspects. Kidney Blood Press Res (2002) 0.79
Recurrent pulmonary embolism in a 13-year-old male homozygous for the prothrombin G20210A mutation combined with protein S deficiency and increased lipoprotein (a). Thromb Res (2002) 0.78