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Novel Mutations In Alox12B In Patients With Autosomal Recessive Congenital Ichthyosis And Evidence For Genetic Heterogeneity On Chromosome 17P13
(Nature Publishing Group, 2007)
We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes ...
Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis
(Oxford Univ Press, 2004)
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ...
Effect of Wrist Involvement on Median Nerve Electrophysiology in Juvenile Idiopathic Arthritis
(Publisaude-Edicoes Medicas Lda, 2009)
Objectives: Localized compression of the median nerve due to wrist arthritis is a frequently reported complication in adult patients with rheumatoid arthritis. However, in only two cases median nerve compression has been ...
Lung Health in Workers Exposed to Reed Dust
(W B Saunders Co Ltd, 2005)
We conducted a cross-sectional survey in a cellulose plant among 109 reed workers, exposed to reed dust and 78 unexposed office workers, to investigate respiratory health effects of reed dust exposure. Investigations ...
Self-Evaluations of Tuberculosis Patients About Their Illnesses At Ankara Ataturk Sanatorium Training and Research Hospital, Turkey
(W B Saunders Co Ltd, 2004)
Tuberculosis (TB) is one of the leading causes of morbidity and mortality and almost one-third of the world is infected with this disease. In Turkey, it remains an important public health concern. In many of the studies, ...
Mutations In Stat3 And Il12Rb1 Impair The Development Of Human Il-17–Producing T Cells
(2008)
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells ...
Novel Hax1 Mutations In Patients With Severe Congenital Neutropenia Reveal Isoform-Dependent Genotype-Phenotype Associations
(Amer Soc Hematology, 2008)
Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. ...
Peritonitis in Children Who Receive Long-Term Peritoneal Dialysis: A Prospective Evaluation of Therapeutic Guidelines
(Amer Soc Nephrology, 2007)
In children who are on chronic peritoneal dialysis, peritonitis is the primary complication compromising technique survival, and the optimal therapy of peritonitis remains uncertain. An Internet-based International Pediatric ...
Recessive Missense Mutations in Lamb2 Expand the Clinical Spectrum of Lamb2-Associated Disorders
(Elsevier Science Inc, 2006)
Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with ...
Successful Treatment with Interferon Alfa in Infiltrating Angiolipoma: A Case Presenting with Kasabach-Merritt Syndrome
(British Med Journal Publ Group, 2003)
We report a case of infiltrating angiolipoma who presented with a large mass on the shoulder and the signs of Kasabach-Merritt syndrome. She improved dramatically within one month and the mass completely disappeared after ...