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| 1 | Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype. | S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy | 2008 | World Journal of Gastroenterology2008，14，29： | 3 |
| 2 | Effect of donor–recipient HLA matching at HLA A, B, C, and DRB1 on outcomes after umbilical-cord blood transplantation for leukaemia and myelodysplastic syndrome: a retrospective analysis显示文摘 | Mary Eapen John P Klein Guillermo F Sanz Stephen Spellman Annalisa Ruggeri Claudio Anasetti Maria Brown Richard E Champlin Joan Garcia-Lopez Gareth Hattersely Gesine Koegler Mary J Laughlin Gerard Michel Samir K Nabhan Franklin O Smith Mary M Horowitz Eli | 2011 | Lancet Oncology2011，，13： | 2 |
| 3 | Effect of graft source on unrelated donor haemopoietic stem-cell transplantation in adults with acute leukaemia: a retrospective analysis显示文摘 | Mary Eapen Vanderson Rocha Guillermo Sanz Andromachi Scaradavou Mei-Jie Zhang William Arcese Anne Sirvent Richard E Champlin Nelson Chao Adrian P Gee Luis Isola Mary J Laughlin David I Marks Samir Nabhan Annalisa Ruggeri Robert Soiffer Mary M Horowitz Eli | 2010 | Lancet Oncology2010，，7： | 2 |
| 4 | Studies on the synthesis of titanium silicalite, TS - 1 显示文摘 | Thangaraj A Eapen M J Sivasanker S | 1992 | Zeolites1992，12，8： | 1 |
| 5 | Interleukin-1 alpha genotype and outcome of unrelated donor haematopoietie stem cell transplantation for chronic myeloid leukaemia显示文摘 | Mehta PA Eapen M Klein JP | 2007 | Br J Haematol2007，137，2： | 1 |
| 6 | Outcomes after transplantation of cord blood or bone marrow from unrelated donors in adults with leukemia 显示文摘 | LAUGHLIN M J EAPEN M RUBINSTEIN P | 2004 | N Engl J Med2004，351，： | 1 |
| 7 | One-Unit versus Two-Unit Cord-Blood transplantation for hematologic cancers显示文摘 | Wagner J Eapen M Carter S | 2014 | N Engl J Med2014，371，18： | 1 |
| 8 | Hydrothermal crystallization of zeolite beta using tetraethylatnmoniumbromide显示文摘 | Eapen M J Reddy K S N Shiralkar V P | 1994 | Zeolites1994，14，4： | 1 |
| 9 | Studies on the synthesis of titanium silicate, TS-1显示文摘 | Thangaraj A Eapen M J Sivasanker S | 1992 | Zeolites1992，12，8： | 1 |
| 10 | ATP7B mutations in families in a predominantly southern Indian cohort of Wilson's disease patients显示文摘 | Santhosh S Shaji R V Eapen C E Jayanthi V Malathi S Chandy M | 2006 | Indian J Gastroenterol2006，25，： | 1 |
| 11 | Effect of graft source on unrelated donor haemopoietic stem-cell transplantation in adults with acute leukaemia:a retrospective analysis显示文摘 | Eapen M Rocha V Sanz G | 2010 | Lancet Oncol2010，11，7： | 1 |
| 12 | Analysis of risk factors influencing outcome in children with myelodysplastic syndrome after unrelated cord blood transplantation显示文摘 | Madureira AB Eapen M Locatelli F | | 0，，： | 1 |
| 13 | Studies on the synthesis of titanium silicalite, TS-1显示文摘 | THANGARAJ A EAPEN M J SIVASANKER S | 1992 | Zeolites1992，12，： | 1 |
| 14 | Double unit grafts successfully extend the application of umbilical cord blood transplantation in adults with acute leukemia显示文摘 | Scaradavou A Brunstein CG Eapen M | 2013 | Blood2013，121，5： | 1 |
| 15 | Synthesis of ZSM - 5 with variable crystallite size and its influence on physicochemical properties显示文摘 | Shiralkar V P Joshi P N Eapen M J | 1991 | Zeolites1991，11，5： | 1 |
| 16 | 显示文摘 | Eapen M J Sivasanker S | 1992 | Zeolites1992，12，8： | 1 |
| 17 | Hematopoietic cell transplantation for Chediak - Higashi syndrome显示文摘 | Eapen M DeLaat CA Baker KS | 2007 | Bone Marrow Transplantation2007，39，7： | 1 |
| 18 | Impact of age on outcomes after bone marrow transplantation for acquired aplastic anemia using HLA-matched sibling donors 显示文摘 | Gupta V Eapen M Brazauskas R | 2010 | Haematnlogica2010，95，12： | 1 |
| 19 | Hydrotropism: root growth responses to water显示文摘 | Eapen D Barroso M L Ponce G | 2005 | Trends in Plan* Science2005，10，1： | 1 |
| 20 | Synthesis of ZSM-5 with variable crystallite size and its influence on physicochemical properties显示文摘 | Shiralkar V P Joshi P N Eapen M J | 1991 | Zeolites1991，11，5： | 1 |
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