Zobrazeno 1 - 10
of 27
pro vyhledávání: '"D. A. Piccoli"'
Autor:
D M, Warthen, E C, Moore, B M, Kamath, J J D, Morrissette, P A, Sanchez-Lara, P, Sanchez, D A, Piccoli, I D, Krantz, N B, Spinner
Publikováno v:
Human Mutation. 27:436-443
Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an
Autor:
R N, Baldassano, P D, Han, W C, Jeshion, J A, Berlin, D A, Piccoli, E, Lautenbach, R, Mick, G R, Lichtenstein
Publikováno v:
American Journal of Gastroenterology. 96:2169-2176
Postoperative recurrence of Crohn's disease in adults has been extensively studied; however, the course of Crohn's disease after surgery in children has not been well defined. The aim of this study was to examine the postoperative course of pediatric
Autor:
B. I. Brown, T. DeClue, Anne Boney, Priya S. Kishnani, D. A. Piccoli, Allyn McConkie-Rosell, Joseph Boyle, Yuan-Tsong Chen, Jianjun Shen, C. Wilson
Publikováno v:
Journal of Inherited Metabolic Disease. 19:51-58
The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age
Publikováno v:
The American Journal of Gastroenterology. 96:2688-2690
The aims of this retrospective study were 1) to determine the ability of single-toxin assays for Clostridium difficile to detect infection among pediatric patients with inflammatory bowel disease (IBD) and 2) to determine the toxin assays routinely u
Publikováno v:
Pediatric Pathology. 12:269-274
Publikováno v:
Journal of Clinical Investigation. 86:1038-1045
Reovirus type 1, after intravenous inoculation in the adult mouse, is secreted via bile into the intestine in an infectious form. Although reovirus type 1 is rapidly removed from systemic circulation by the liver and the lung, very few hepatocytes ex
Publikováno v:
Human mutation. 17(2)
Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS
Autor:
I D, Krantz, R, Smith, R P, Colliton, H, Tinkel, E H, Zackai, D A, Piccoli, E, Goldmuntz, N B, Spinner
Publikováno v:
American journal of medical genetics. 84(1)
Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided def
Autor:
Victoria E.H. Carlton, B. B. Dahms, Joseph DeYoung, J. Reyes, D. A. Piccoli, C. L. Witzleben, Laura N. Bull, F. J. Dicarlo, N. C. O'connell, K. D. R. Setchell, N. L. Stricker, M. S. Magid, S A Kocoshis, E. Kahn, P. R. Faught, J. F. Fitzgerald, Nelson B. Freimer, J T Boyle, L. Mcloughlin, A. S. Knisely, R. M. Agostini, Siamak Baharloo, John S. Markowitz
Publikováno v:
Hepatology (Baltimore, Md.). 26(1)
Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are not members of the Amish kindred in which ByD was described,
Publikováno v:
Digestive diseases and sciences. 42(6)
Alcohol acts as a teratogen in the fetus, resulting in prenatal or postnatal growth failure, characteristic facial dysmorphic features, and central nervous system dysfunction. The toxic effects of alcohol on the developing brain are well recognized,