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| 1 | Aggressive juvenile polyposis in children with chromosome 10q23 deletion显示文摘Juvenile polyps are relatively common findings in children,while juvenile polyposis syndrome(JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer.Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood.These reports have also described extra-intestinal findings in most cases including cardiac anomalies,developmental delay and macrocephaly.In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly,developmental delay,short stature,hypothyroidism,atrial septal defect,ventricular septal defect and hypospadias.He required colectomy at six years of age,and early colectomy was a common outcome in other children with similar deletions.Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age,we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts,and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis. | Seth Septer Lei Zhang Caitlin E Lawson Jose Cocjin Thomas Attard Holly H Ardinger | 2013 | World Journal of Gastroenterology2013，19，14： | 4 |
| 2 | Immunomodulatory activity of cucurbitacin isolated from Ecballium elaterium显示文摘 | Attard E Brineat MP Cuschieri A | 2005 | Fitoterapia2005，76，5： | 1 |
| 3 | Effects of Ephedrine and Ephedra fragilis Crude Extracts on Human Peripheral Lymphocytes 显示文摘 | Attard E Vella K | 2009 | Pharmacognosy Research2009，1，2： | 1 |
| 4 | Immunomodulatory activity of cucurbitaein E isolated from Ecballium elaterium 显示文摘 | ATTARD E BRINCAT M P CUSCHIERI A | 2005 | Fitoterapia2005，76，： | 1 |
| 5 | Multi-level examination of diabetes in modernising China: whatelements of urbanisation are most associated with diabetes?显示文摘 | Attard S M Herring A H Mayer-Davis E J | 2012 | Diabetologia2012，55，12： | 1 |
| 6 | Immunomodulato- ry Activity of Cucurbitacin Isolated from Ecballium Elaterium显示文摘 | Attard E Brincat M P Cuschieri A | 2005 | Fitoterapia2005，76，5： | 1 |
| 7 | Displacement based finite element formulations for material nonlinear analysis of composite beams and treatment of locking behaviour 显示文摘 | ERKMEN R E ATTARD M M | 2011 | Finite Elements in Analysis and Design2011，47，12： | 1 |
| 8 | Matrix Optical Analysis of Skew Rays in Mixed Systems of Spherical and Orthogonal Cylindrical Lenses显示文摘 | Attard A E | 1984 | App Op1984，23，16： | 1 |
| 9 | Tunable gold catalysts for selective hydrocarbon oxidation under mild conditions 显示文摘 | Hughes M D Xu Y J Jenkins P Mcmorn P Landon P Enache D I Carley A F Attard G A Hutchings G J King F Stitt E H Johnston P Griffin K Kiely C J | 2005 | Nature2005，437，7062： | 1 |
| 10 | Design of thymidylates synthase inhibtors using protein crystal structures:the synthesis and biological evaluation of a novel class of 5-substituted显示文摘 | WEBBER S E BLECKMAN T M ATTARD J | 1993 | J Med Chem1993，36，： | 1 |
| 11 | Auxetic behaviour from connected different-sized squares and rectangles显示文摘 | GRIMA J N MANICARO E ATTARD D | 2011 | Proc Roy Soc London Ser A2011，467，： | 1 |
| 12 | Grazing trig-gers soil carbon loss by altering plant roots and theircontrol on soil microbial community显示文摘 | Klumpp K Fontaine S Attard E | 2009 | Journal of E-cology2009，97，5： | 1 |
| 13 | Matrix optical analysis of skew rays in mixed systems of spherical and orthogonal cylindrical lenses显示文摘 | A E Attard | 1984 | Appl Opt1984，23，16： | 1 |
| 14 | Tunable gold catalysts for selective hydrocarbon oxidation under mild conditions 显示文摘 | HUGHES M D XU Y J JENKINS P MCMORN P LANDON P ENACHE D I CARLEY A F ATTARD G A HUTCHINGS G J KING F STITT E H JOHNSTON P GRIFFIN K KIELY C J | 2005 | Nature2005，437，7062： | 1 |
| 15 | Shifts between Nitrospira- and Nitrobacter-like nitrite oxidizers underlie the response of soil potential nitrite oxidation to changes in tillage practices显示文摘 | Attard E Poly F Commeaux C etal | 2010 | Environmental Microbiology2010，12，2： | 1 |
| 16 | 显示文摘 | Attard G T Lenonowicz M E Roth W J | 1992 | Nature1992，359，： | 1 |
| 17 | Displacement-based finite element formulations for material-nonlinear analysis of composite beams and treatment of locking behaviour显示文摘 | Erkmen R E Attard M M | 2011 | Finite Elements in Analysis and Design2011，47，12： | 1 |
| 18 | Photoconductive and photorefractive effects in BSO显示文摘 | | 1998 | Applied Optics1998，28，23： | 1 |
| 19 | Immunomodulatory acticityof cucurbitacin E isolated from ecballium elaterium 显示文摘 | Attard E Brincat M P Cuschicri A | 2005 | Fitoterapia2005，76，43： | 1 |
| 20 | Immunomodulatory activity of cucurbitacin isolated from Eeballium elaterium显示文摘 | Attard E Brincat M P Cuschieri A | 2005 | Fitot erapia2005，76，5： | 1 |
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