Search Results - "Green, Peter M."
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Multiple common variants for celiac disease influencing immune gene expression
Published in Nature genetics (01-04-2010)“…David van Heel and colleagues report results of a large genome-wide association study of celiac disease. Most of the associated loci contain genes with immune…”
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Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
Published in Blood (01-01-2002)“…The messenger RNA (mRNA) from 5 of 69 patients with severe hemophilia A did not support amplification of complementary DNA containing the first few exons of…”
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Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A
Published in Genome research (01-02-2005)“…Inversions breaking the 1041 bp int1h-1 or the 9.5-kb int22h-1 sequence of the F8 gene cause hemophilia A in 1/30,000 males. These inversions are due to…”
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Unique heterozygous intron 22 inversion band pattern in a haemophilic male detected by long polymerase chain reaction (PCR)
Published in Thrombosis and haemostasis (01-04-2008)Get more information
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A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome
Published in Human mutation (01-10-2006)“…About 85% of Alport syndrome is an X‐linked semi‐dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of…”
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Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome
Published in Human genetics (01-12-2002)“…The X-linked form of Alport syndrome is caused by mutations in the COL4A5 gene in Xq22. This large multiexonic gene has, in the past, been difficult to screen,…”
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A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndrome
Published in Human mutation (01-10-2006)Get full text
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Detection of mutations in COL4A5 in patients with Alport Syndrome
Published in Human mutation (1999)“…Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening…”
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Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients
Published in British journal of haematology (01-12-1999)“…We have constructed a confidential U.K. database of haemophilia A mutations and pedigrees by characterizing the gene defect of one index patient in each U.K…”
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Floor sensors of animal weight and gait for precision livestock farming
Published in 2017 IEEE SENSORS (01-10-2017)“…We report first results on developing smart sensor systems for the automatic and frequent collection of animal weight and gait data, under the hostile…”
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Conference Proceeding -
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Further evidence for the importance of an androgen response element in the factor IX promoter
Published in British journal of haematology (01-07-1997)“…Previous work involving the characterizing of a factor IX promoter mutation (−26 G → C) of a 21‐year‐old patient with severe haemophilia B suggested that an…”
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Detection of point mutations and a gross deletion in six Hunter syndrome patients
Published in Genomics (San Diego, Calif.) (01-07-1992)“…We have used screening with the polymerase chain reaction and chemical mismatch detection of amplified cDNA to detect and characterize deletions and point…”
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Church planting among diaspora refugees for the purpose of reaching the nations
Published 01-01-2016“…The Apostle Paul declared the sovereignty of God over the global movements of people in Acts 17:26, 27 when he boldly proclaimed, "And hath made of one blood…”
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Dissertation -
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Environmental monitoring in grain
Published in 2010 IEEE Instrumentation & Measurement Technology Conference Proceedings (01-05-2010)“…It is shown that Wireless Sensor Networks (WSNs) are capable of deployment in industrial processes which present particularly hostile RF environments. The…”
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Conference Proceeding -
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Celiac disease
Published in Journal of allergy and clinical immunology (01-05-2015)“…This review will focus on the pathogenesis, clinical manifestations, diagnosis, and management of celiac disease (CD). Given an increasing awareness of…”
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Posesión y "Pneuma": la naturaleza esencial del Oráculo de Delfos
Published in Anales de historia antigua, medieval y moderna (2011)Get full text
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Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
Published in Human molecular genetics (01-11-1993)“…Surprisingly half of all severe haemophilia A patients have no mutation in the promoter, coding sequences and normal RNA processing signals of the factor VIII…”
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Arsinoë of Egypt and Macedon: A Royal Life
Published in The Classical Journal (01-03-2015)Get full text
Book Review