Search Results - "Piccoli, D A"

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate by Warthen, DM, Moore, EC, Kamath, BM, Morrissette, JJD, Sanchez, P, Piccoli, DA, Krantz, ID, Spinner, NB

“…Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical…”
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Consequences of JAG1 mutations by Kamath, B M, Bason, L, Piccoli, D A, Krantz, I D, Spinner, N B

“…Background: Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1…”
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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis by Emerick, Karan M., Rand, Elizabeth B., Goldmuntz, Elizabeth, Krantz, Ian D., Spinner, Nancy B., Piccoli, David A.

“…We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with…”
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Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC‐1] and Byler syndrome): Evidence for heterogeneity by Bull, L N, Carlton, V E, Stricker, N L, Baharloo, S, DeYoung, J A, Freimer, N B, Magid, M S, Kahn, E, Markowitz, J, DiCarlo, F J, McLoughlin, L, Boyle, J T, Dahms, B B, Faught, P R, Fitzgerald, J F, Piccoli, D A, Witzleben, C L, O'Connell, N C, Setchell, K D, Agostini, R M, Kocoshis, S A, Reyes, J, Knisely, A S

“…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…”
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Mutations in the human Jagged1 gene are responsible for Alagille syndrome by Oda, Takaya, Elkahloun, Abdel G, Pike, Brian L, Okajima, Kazuki, Krantz, Ian D, Genin, Anna, Piccoli, David A, Meltzer, Paul S, Spinner, Nancy B, Collins, Francis S, Chandrasekharappa, Settara C

“…Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae, as well as a…”
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Risk factors for low bone mineral density in children and young adults with Crohn’s disease by Semeao, Edisio J., Jawad, Abbas F., Stouffer, Nicole O., Zemel, Babette S., Piccoli, David A., Stallings, Virginia A.

“…Objective: Low bone mineral density (BMD) is a recognized complication of Crohn’s disease (CD). The aim of this study was to identify the risk factors for low…”
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The Expression of Jagged1 in the Developing Mammalian Heart Correlates With Cardiovascular Disease in Alagille Syndrome by Loomes, Kathleen M., Underkoffler, Lara A., Morabito, Justin, Gottlieb, Shoshanna, Piccoli, David A., Spinner, Nancy B., Scott Baldwin, H., Oakey, Rebecca J.

“…The establishment of the cardiovascular system represents an early, critical event essential for normal embryonic development, and defects in cardiovascular…”
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Vertebral compression fractures in pediatric patients with Crohn's disease by Semeao, EJ, Stallings, VA, Peck, SN, Piccoli, DA

“…Osteoporosis is known to be a significant complication of Crohn's disease in adult patients. The association of osteoporosis and the development of vertebral…”
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Alagille syndrome and the Jagged1 gene by Piccoli, D A, Spinner, N B

“…Since the first descriptions of Alagille syndrome (syndromic bile duct paucity) 30 years ago, our appreciation of the clinical variability and complexity of…”
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Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families by Krantz, Ian D., Colliton, Raymond P., Genin, Anna, Rand, Elizabeth B., Li, Linheng, Piccoli, David A., Spinner, Nancy B.

“…Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and…”
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Inflammatory bowel disease in pediatric and adolescent patients by Baldassano, R N, Piccoli, D A

“…IBD is a chronic pediatric disease that needs to be treated by a team of experts consisting of pediatricians, pediatric gastroenterologists, psychologists,…”
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Alagille syndrome by Krantz, I D, Piccoli, D A, Spinner, N B

“…Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial…”
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Growth, Body Composition, and Nutritional Status in Children and Adolescents With Crohn's Disease by Sentongo, Timothy A, Semeao, Edisio J, Piccoli, David A, Stallings, Virginia A, Zemel, Babette S

“…OBJECTIVE To examine growth, body composition, and nutritional status in a large sample of children, adolescents, and young adults with Crohn's disease (CD)…”
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Single toxin detection is inadequate to diagnose Clostridium difficile diarrhea in pediatric patients by Kader, Howard A., Piccoli, David A., Jawad ‡, Abbas F., Mcgowan §, Karin L., Maller, Eric S.

“…Background & Aims: Clostridium difficile is an important cause of symptomatic diarrhea in pediatric patients. The bacterium produces two toxins, although many…”
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Experiences with 6-Mercaptopurine and Azathioprine Therapy in Pediatric Patients with Severe Ulcerative Colitis by Kader, Howard A, Mascarenhas, Maria R, Piccoli, David A, Stouffer, Nicole O, Baldassano, Robert N

“…BACKGROUND:The effectiveness of 6-mercaptopurine combined with azathioprine in treating severe ulcerative colitis has been shown in several adult studies…”
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Chronic intestinal pseudoobstruction associated with fetal alcohol syndrome by UC, A, VASILIAUSKAS, E, PICCOLI, D. A, FLORES, A. F, DI LORENZO, C, HYMAN, P. E

“…Alcohol acts as a teratogen in the fetus, resulting in prenatal or postnatal growth failure, characteristic facial dysmorphic features, and central nervous…”
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Azathioprine and 6-Mercaptopurine for the Treatment of Perianal Crohn's Disease in Children by Jeshion, Wendy C, Larsen, Kelly L, Jawad, Abbas F, Piccoli, David A, Verma, Ritu, Maller, Eric S, Baldassano, Robert N

“…Numerous adult studies show a 30-65% response rate to azathioprine (AZA) or 6-mercaptopurine (6-MP) for significant perianal Crohn's disease. The aim of this…”
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Clinical and laboratory findings in four patients with the non‐progressive hepatic form of type IV glycogen storage disease by McConkie‐Rosell, A., Wilson, C., Piccoli, D. A., Boyle, J., De Clue, T., Kishnani, P., Shen, J.‐J., Boney, A., Brown, B., Chen, Y. T.

“…Summary The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to…”
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Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate by Warthen, D. M., Moore, E. C., Kamath, B. M., Morrissette, J. J. D., Sanchez-Lara, P. A., Piccoli, D. A., Krantz, I. D., Spinner, N. B.

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A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy by VERMA, A, PICCOLI, D. A, BONILLA, E, BERRY, G. T, DIMAURO, S, MORAES, C. T

“…We describe a childhood mitochondrial disorder in which the clinical symptoms began and remained confined to the gastrointestinal (GI) system during the first…”
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