Literature DB >> 9507397

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

P Lapunzina1, I Badia, C Galoppo, E De Matteo, P Silberman, A Tello, J Grichener, R Hughes-Benzie.   

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.

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Year:  1998        PMID： 9507397      PMCID： PMC1051222          DOI： 10.1136/jmg.35.2.153

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  22 in total

1.  The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

Authors:  R Hughes-Benzie; J Allanson; A Hunter; T Cole
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

2.  Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.

Authors:  R M Hughes-Benzie; J L Tolmie; M McNay; A Patrick
Journal:  Prenat Diagn       Date:  1994-04       Impact factor: 3.050

3.  Glypicans: a growing trend.

Authors:  R Weksberg; J A Squire; D M Templeton
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

4.  Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors.

Authors:  A T De Souza; G R Hankins; M K Washington; R L Fine; T C Orton; R L Jirtle
Journal:  Oncogene       Date:  1995-05-04       Impact factor: 9.867

5.  Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.

Authors:  U Orth; F Gurrieri; A Behmel; M Genuardi; M Cremer; A Gal; G Neri
Journal:  Am J Med Genet       Date:  1994-05-01

6.  Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation.

Authors:  H H Punnett
Journal:  Am J Med Genet       Date:  1994-05-01

7.  A case study of Beckwith-Wiedemann syndrome associated with hepatoblastoma.

Authors:  C Martelli; S Blandamura; S Massaro; M Zulian; G Altavilla; M Piazza
Journal:  Clin Exp Obstet Gynecol       Date:  1993       Impact factor: 0.146

8.  Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Authors:  G Pilia; R M Hughes-Benzie; A MacKenzie; P Baybayan; E Y Chen; R Huber; G Neri; A Cao; A Forabosco; D Schlessinger
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

9.  Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

Authors:  D Terespolsky; S A Farrell; J Siegel-Bartelt; R Weksberg
Journal:  Am J Med Genet       Date:  1995-11-20

10.  M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.

Authors:  A T De Souza; G R Hankins; M K Washington; T C Orton; R L Jirtle
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330
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  7 in total

1.  Glypican 3 overexpression in primary and metastatic Wilms tumors.

Authors:  Maria Tretiakova; Debra L Zynger; Chunyan Luan; Nicole K Andeen; Laura S Finn; Masha Kocherginsky; Bin T Teh; Ximing J Yang
Journal:  Virchows Arch       Date:  2014-11-04       Impact factor: 4.064

Review 2.  The contribution of in vivo manipulation of gene expression to the understanding of the function of glypicans.

Authors:  Jorge Filmus
Journal:  Glycoconj J       Date:  2002 May-Jun       Impact factor: 2.916

Review 3.  Overgrowth Syndromes.

Authors:  Andrew C Edmondson; Jennifer M Kalish
Journal:  J Pediatr Genet       Date:  2015-09-25

Review 4.  A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.

Authors:  Sarah Scollon; Amanda Knoth Anglin; Martha Thomas; Joyce T Turner; Kami Wolfe Schneider
Journal:  J Genet Couns       Date:  2017-03-29       Impact factor: 2.537

5.  Expression of glypican 3 in placental site trophoblastic tumor.

Authors:  Robin J Ou-Yang; Pei Hui; Ximing J Yang; Debra L Zynger
Journal:  Diagn Pathol       Date:  2010-09-25       Impact factor: 2.644

Review 6.  Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Authors:  Jennifer M Kalish; Leslie Doros; Lee J Helman; Raoul C Hennekam; Roland P Kuiper; Saskia M Maas; Eamonn R Maher; Kim E Nichols; Sharon E Plon; Christopher C Porter; Surya Rednam; Kris Ann P Schultz; Lisa J States; Gail E Tomlinson; Kristin Zelley; Todd E Druley
Journal:  Clin Cancer Res       Date:  2017-07-01       Impact factor: 12.531

Review 7.  Simpson-Golabi-Behmel syndrome types I and II.

Authors:  Jair Tenorio; Pedro Arias; Víctor Martínez-Glez; Fernando Santos; Sixto García-Miñaur; Julián Nevado; Pablo Lapunzina
Journal:  Orphanet J Rare Dis       Date:  2014-09-20       Impact factor: 4.123
  7 in total

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