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Investigators at National Hospital Organization zero in on deafness
2009 NOV 24 ... "Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees ...
Subject: Deafness
Price: $3.00
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New birt-hogg-dube syndrome study results reported from Yokohama City University, Medical Department
2009 NOV 24 ... from Yokohama, Japan, "Birt-Hogg-Dube (BHD) syndrome is a rare disorder inherited in an autosomal dominant manner. The affected patients are predisposed to cutaneous fibrofolliculomas, ...
Subject: Birt-Hogg-Dube Syndrome
Price: $3.00
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New breast cancer data have been reported by researchers at Nanjing Medical University
2009 NOV 23 ... such as BRCA1. Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom syndromes, which are associated with premature ...
Subject: Breast Cancer
Price: $3.00
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New cleft lip research from Afyon Kocatepe University, Medical Department described
2009 NOV 24 ... most common major birth defect. Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with ...
Subject: Cleft Lip
Price: $3.00
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New findings from M. Bonyadi and co-authors describe advances in deafness
2009 NOV 24 ... "Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the ...
Subject: Deafness
Price: $3.00
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New findings from R. Rodrigues and co-researchers in the area of cystic fibrosis described
2009 NOV 24 ... "Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 ...
Subject: Cystic Fibrosis
Price: $3.00
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Prodromal Symptoms Warn of Hereditary Angioedema Attacks, Give Patients Time to Start Therapy and Decrease Morbidity
2009 NOV 23 ... to 10,000 Americans and is caused by a deficiency of C1-INH, which is inherited in an autosomal dominant manner. Patients who have abdominal attacks can experience episodes of severe ...
Subject: Hereditary Angioedema
Price: $3.00
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Recent findings in corneal dystrophies described by P. Paliwal and colleagues
2009 NOV 23 ... wrote P. Paliwal and colleagues. The researchers concluded: "All autosomal dominant stromal dystrophies should be screened for underlying mutations in TGFBI ...
Subject: Corneal Dystrophies
Price: $3.00
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Recent findings in polyneuropathies described by researchers from Cheju National University
2009 NOV 23 ... According to a study from South Korea, "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a ...
Subject: Polyneuropathies
Price: $3.00
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Recent studies from University of Granada add new data to molecular genetics
2009 NOV 24 ... in the XX/XY dioecious species, the RAE180 satellite-DNA is located only in a small autosomal locus, the RAE180 repeats are present also in a small...
Subject: Molecular Genetics
Price: $3.00
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Reports outline cardiomyopathies study results from Charles University
2009 NOV 23 ... recent research from Prague, Czech Republic, "Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) ...
Subject: Cardiomyopathies
Price: $3.00
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Research from Hebrew University yields new findings on deafness
2009 NOV 24 ... were observed; therefore, blastomere biopsy appears to be the method of choice for this autosomal recessive disease." Altarescu and colleagues published their study in the ...
Subject: Deafness
Price: $3.00
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Research from Indiana University provide new insights into granuloma
2009 NOV 23 ... binds to phosphatidylinositol 3-phosphate (PtdIns(3) P). We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40(phox), in a boy who presented with ...
Subject: Granuloma
Price: $3.00
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Research in the area of equine veterinary science reported from University of Iceland, Biomed Center
2009 NOV 23 ... and EIFIA Gamma. This case indicates that the intersexual phenotype may be caused by autosomal recessive mutation, resulting in defects in cortisol biosynthesis rather than transferal ...
Subject: Equine Veterinary Science
Price: $3.00
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Research in the area of respiratory medicine reported from Hospital for Sick Children, Medical Department
2009 NOV 23 ... to a study from Toronto, Canada, "Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterised by vascular dysplasia complicated by visceral ...
Subject: Respiratory Medicine
Price: $3.00
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Researchers at Campinas State University publish new data on life sciences
2009 NOV 24 ... ligation-dependent probe amplification in 185 unrelated Brazilian patients with autosomal recessive nonsyndromic sensorineural hearing loss (43 heterozygous patients and 142 ...
Subject: Life Sciences
Price: $3.00
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Researchers at Indiana University target proteome research
2009 NOV 23 ... protein ligase contribute to a predominant cause of a familial form of PD termed autosomal recessive juvenile Parkinsonism (AR-JP)." "Drosophila parkin null mutants ...
Subject: Proteome Research
Price: $3.00
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Researchers at University of Michigan, Medical Department have published new data on prostate cancer
2009 NOV 23 ... evidence for X-linked prostate cancer risk, all prostate cancer genes identified are autosomal. Here, we report somatic inactivating mutations and deletion of the X-linked FOXP3 gene ...
Subject: Prostate Cancer
Price: $3.00
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Scientists at Harvard University, Medical Department publish new data on epilepsy
2009 NOV 23 ... epilepsy gene LGI1, encoding leucine-rich, glioma-inactivated protein-1 and mutated in autosomal dominant lateral temporal lobe epilepsy (ADLTE), mediates this process in hippocampus," ...
Subject: Epilepsy
Price: $3.00
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Study findings on paraplegia are outlined in reports from S.M. Kim and colleagues
2009 NOV 23 ... with thin corpus callosum (HSP-TCC) is one of the most common complicated forms of autosomal recessive hereditary spastic paraplegia (HSP). Mutation in SPG11 gene, which is mapped ...
Subject: Paraplegia
Price: $3.00
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