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| 1 | Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing显示文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene. | Naim Alkhouri Barbara Kaplan Marsha Kay Amy Shealy Carol Crowe Susanne Bauhuber Martin Zenker | 2008 | World Journal of Gastroenterology2008，14，44： | 4 |
| 2 | Growing Chinese coal use: Dramatic resource and environmental implications显示文摘 | Shealy M Dorian J P | 2010 | Energy Policy2010，38，5： | 1 |
| 3 | Refractive optical sys- tems for irradiance redistribution of collimated radiation: their design and analysis 显示文摘 | Patrick W Rhodes David L Shealy | 1980 | Appl Opt1980，19，20： | 1 |
| 4 | Sleeponset insomnia : personality characteristicsand treatment outcome 显示文摘 | Shealy RC Lowe JD Ritzier BA | 1980 | J ConsultClin Psychol1980，48，5： | 1 |
| 5 | Two-dimensional electron gases induced by spontaneous and piezoelectric polarization charges in N-and Ga-face Al Ga N/Ga N heterostructures显示文摘 | AMBACHER O SMART J SHEALY J R | 1999 | Journal of Applied Physics1999，85，6： | 1 |
| 6 | The mouse/human chimeric monoclonal antibody cA2 neutralizes TNF in vitro and protects transgenic mice from cachexia and TNF lethality in vivo显示文摘 | Siegel SA Shealy DJ Nakada MT | 1995 | Cytokine1995，7，1： | 1 |
| 7 | Anti-TNF-alpha antibody allows healing of joint damage in polyarthritic transgenic mice 显示文摘 | David J Shealy PHW Eva Emmell | 2002 | Arthritis Res2002，28，4： | 1 |
| 8 | Anti-TNF-a antibody al lows healing of joint damage in polyarthritic transgenic mice显示文摘 | Shealy D J Wooley PH Emmell E | 2002 | Arthritis Research2002，4，5： | 1 |
| 9 | Tumor necrosis factor deficiency inhibits mammary tumor genesis and a tumor necrosis factor neutralizing antibody decreases mammary tumor growth in neu/erbB2 transgenic mice显示文摘 | Warren MA Shoemaker SF Shealy DJ | 2009 | Mol Cancer Ther2009，8，9： | 1 |
| 10 | Design and analysis of a Schwarzschild imaging multi- player X-ray microscope 显示文摘 | SHEALY D L | 1990 | Optical Engineering1990，29，7： | 1 |
| 11 | The gaping hole: Physi- cians are missing from the front line of disaster preparedness training 显示文摘 | Shealy RM Simpson WM Jr Lee FW | 2006 | JSCMedAssoc2006，102，1： | 1 |
| 12 | Two - dimensional electron gases induced by spontaneous and piezoelectric polarization charges in N - and Ga - face AlGaN/GaN heterostructures 显示文摘 | AMBACHER O SMART J SHEALY J R | 1999 | J Appl Phys1999，85，： | 1 |
| 13 | Asynthesisofpregnane-3,20-dione from stigmasterol and ergosterol 显示文摘 | Slomp G Shealy YF JohnsonJL etal | 1955 | J Amer Chem Soc1955，77，： | 1 |
| 14 | Electrical inhibition of pain by stimulation of dorsal column: preliminary clinical reports显示文摘 | Shealy CN Mortimer Jr Reswick KB | 1967 | Anesthesia Analgesia1967，4，： | 1 |
| 15 | Differential equation design of finite-conjugate reflective systems显示文摘 | C Wang D L Shealy | 1993 | Appl Opt1993，32，7： | 1 |
| 16 | Laser Stimulated Selective Area Growth of Quantum Dots 显示文摘 | Wankerl A Schremer A T Shealy J R | 1998 | Appl Phys Lett1998，72，25： | 1 |
| 17 | The role of the spinal facets in back and sciatic pain 显示文摘 | Shealy CN | 1974 | Headache1974，14，： | 1 |
| 18 | Tumor necrosis factordeficiency inhibits mammary tumorigenesis and a tumor necrosisfactor neutralizing antibody decreases mammary tumor growth inneu/erbB2 transgenic mice 显示文摘 | Warren MA Shoemarker SF Shealy DJ | 2009 | Mol Cancer Ther2009，8，9： | 1 |
| 19 | Laser beam shaping profiles and propagation显示文摘 | SHEALY D L HOFFNAGLE J A | | 0，，21： | 1 |
| 20 | The mouse/human chimeric monoelonal antibody cA2 neutralizes TNF in vitro and protects transgenicmice from cachexia and TNF lethality in vivo 显示文摘 | Siegel S A Shealy D J Nakada M T | 1995 | Cytokine1995，7，1： | 1 |
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