Literature DB >> 19334084

Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.

Shyam Sathyamoorthi1, Jaime Morales, Jose Bermudez, Lori McBride, Mark Luquette, Robin McGoey, Nora Oates, Stephen Hales, Jaclyn A Biegel, Yves Lacassie.   

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Year:  2009        PMID： 19334084      PMCID： PMC3102295          DOI： 10.1002/ajmg.a.32775

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  10 in total

1.  Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

Authors:  J A Biegel; J Y Zhou; L B Rorke; C Stenstrom; L M Wainwright; B Fogelgren
Journal:  Cancer Res       Date:  1999-01-01       Impact factor: 12.701

2.  The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors.

Authors:  Jaclyn A Biegel; Ganjarn Kalpana; Erik S Knudsen; Roger J Packer; Charles W M Roberts; Carol J Thiele; Bernard Weissman; Malcolm Smith
Journal:  Cancer Res       Date:  2002-01-01       Impact factor: 12.701

3.  Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study.

Authors:  P C Burger; I T Yu; T Tihan; H S Friedman; D R Strother; J L Kepner; P K Duffner; L E Kun; E J Perlman
Journal:  Am J Surg Pathol       Date:  1998-09       Impact factor: 6.394

Review 4.  The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Authors:  Lisa G Shaffer; Aaron Theisen; Bassem A Bejjani; Blake C Ballif; Arthur S Aylsworth; Cynthia Lim; Marie McDonald; Jay W Ellison; Dana Kostiner; Sulagna Saitta; Tamim Shaikh
Journal:  Genet Med       Date:  2007-09       Impact factor: 8.822

5.  Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry.

Authors:  Joanne M Hilden; Sharon Meerbaum; Peter Burger; Jonathan Finlay; Anna Janss; Bernd W Scheithauer; Andrew W Walter; Lucy B Rorke; Jaclyn A Biegel
Journal:  J Clin Oncol       Date:  2004-07-15       Impact factor: 44.544

6.  Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.

Authors:  Alexander R Judkins; Joanne Mauger; As Ht; Lucy B Rorke; Jaclyn A Biegel
Journal:  Am J Surg Pathol       Date:  2004-05       Impact factor: 6.394

Review 7.  22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.

Authors:  Kristina Cusmano-Ozog; Melanie A Manning; H Eugene Hoyme
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-11-15       Impact factor: 3.908

8.  Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity.

Authors:  L B Rorke; R J Packer; J A Biegel
Journal:  J Neurosurg       Date:  1996-07       Impact factor: 5.115

9.  Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.

Authors:  I Versteege; N Sévenet; J Lange; M F Rousseau-Merck; P Ambros; R Handgretinger; A Aurias; O Delattre
Journal:  Nature       Date:  1998-07-09       Impact factor: 49.962

10.  Deletion 22q13.3 syndrome.

Authors:  Mary C Phelan
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123
  10 in total
  5 in total

1.  Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Authors:  Heather M Byers; Margaret P Adam; Amy LaCroix; Sarah E S Leary; Bonnie Cole; William B Dobyns; Heather C Mefford
Journal:  Am J Med Genet A       Date:  2016-10-12       Impact factor: 2.802

2.  Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.

Authors:  Eun Hae Cho; Jae Bok Park; Jin Kyung Kim
Journal:  Korean J Pediatr       Date:  2014-07-23

3.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

4.  Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.

Authors:  Haruki Yamashita; Yoshiki Arakawa; Yukinori Terada; Yasuhide Takeuchi; Yohei Mineharu; Sosuke Sumiyoshi; Shinya Tokunaga; Kohei Nakajima; Naoko Kawabata; Kuniaki Tanaka; Masahiro Tanji; Katsutsugu Umeda; Sachiko Minamiguchi; Seishi Ogawa; Hironori Haga; Junko Takita; Susumu Miyamoto
Journal:  Brain Tumor Pathol       Date:  2022-06-24       Impact factor: 3.154

Review 5.  State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.

Authors:  Megan D McCoy; Sara M Sarasua; Jane M DeLuca; Stephanie Davis; Katy Phelan; Roger Curtis Rogers; Luigi Boccuto
Journal:  Genes (Basel)       Date:  2022-06-10       Impact factor: 4.141
  5 in total

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