Literature DB >> 30683921

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Marie-Laure Vuillaume1,2, Marie-Pierre Moizard1,2, Alessandra Baumer3, Edouard Cottereau1, Frédéric Brioude4,5, Anita Rauch3, Annick Toutain6,7.   

Abstract

NAME OF THE DISEASE (SYNONYMS): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in ⊠ diagnostic, ☐ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

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Year:  2019        PMID： 30683921      PMCID： PMC6460641          DOI： 10.1038/s41431-019-0339-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  7 in total

1.  Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

Authors:  John Waterson; Tracy L Stockley; Summer Segal; Mahin Golabi
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

2.  Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Authors:  Edouard Cottereau; Marie-Pierre Moizard; Albert David; Martine Raynaud; Nadine Marmin; Annick Toutain
Journal:  Am J Med Genet A       Date:  2013-11-08       Impact factor: 2.802

3.  Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Authors:  Ron Agatep; Cheryl Shuman; Leslie Steele; Nicole Parkinson; Rosanna Weksberg; Tracy L Stockley
Journal:  Am J Med Genet A       Date:  2014-07-29       Impact factor: 2.802

Review 4.  Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Authors:  Edouard Cottereau; Isabelle Mortemousque; Marie-Pierre Moizard; Lydie Bürglen; Didier Lacombe; Brigitte Gilbert-Dussardier; Sabine Sigaudy; Odile Boute; Albert David; Laurence Faivre; Jeanne Amiel; Robert Robertson; Fabiana Viana Ramos; Eric Bieth; Sylvie Odent; Bénédicte Demeer; Michéle Mathieu; Dominique Gaillard; Lionel Van Maldergem; Geneviéve Baujat; Isabelle Maystadt; Delphine Héron; Alain Verloes; Nicole Philip; Valérie Cormier-Daire; Marie-Françoise Frouté; Lucile Pinson; Patricia Blanchet; Pierre Sarda; Marjolaine Willems; Adeline Jacquinet; Ilham Ratbi; Jenneke Van Den Ende; Marylin Lackmy-Port Lis; Alice Goldenberg; Dominique Bonneau; Sylvie Rossignol; Annick Toutain
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-04-18       Impact factor: 3.908

5.  Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Authors:  Schaida Schirwani; Antonio Novelli; Maria Cristina Digilio; David Bourn; Valerie Wilson; Catherine Roberts; Bruno Dallapiccola; Emma Hobson
Journal:  Eur J Med Genet       Date:  2018-07-23       Impact factor: 2.708

6.  Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Authors:  Marie-Laure Vuillaume; Marie-Pierre Moizard; Sylvie Rossignol; Edouard Cottereau; Sandrine Vonwill; Jean-Luc Alessandri; Tiffany Busa; Estelle Colin; Marion Gérard; Fabienne Giuliano; Laetitia Lambert; Mathilde Lefevre; Udhaya Kotecha; Sheela Nampoothiri; Irène Netchine; Martine Raynaud; Frédéric Brioude; Annick Toutain
Journal:  Hum Mutat       Date:  2018-04-24       Impact factor: 4.878

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
  6 in total

1.  A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report.

Authors:  Jing Sha; Fangfang Tan; Ying Liu; Zaochun Xu; Xuezhen Wang; Jingfang Zhai
Journal:  Medicine (Baltimore)       Date:  2022-04-22       Impact factor: 1.817

Review 2.  Glypican 3-Targeted Therapy in Hepatocellular Carcinoma.

Authors:  Takahiro Nishida; Hiroaki Kataoka
Journal:  Cancers (Basel)       Date:  2019-09-10       Impact factor: 6.639

Review 3.  Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

Authors:  Yongbing Guo; Huijing Zhang; Lixin Fan; Junya Chen; Xiaoxiao Zhang; Huixia Yang; Yu Sun
Journal:  BMC Pregnancy Childbirth       Date:  2022-01-17       Impact factor: 3.007

4.  Proliferation Cycle Transcriptomic Signatures are Strongly associated With Gastric Cancer Patient Survival.

Authors:  Jianwen Hu; Yanpeng Yang; Yongchen Ma; Yingze Ning; Guowei Chen; Yucun Liu
Journal:  Front Cell Dev Biol       Date:  2021-12-01

5.  Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report.

Authors:  Jing Zhang; Kai Mu; Haiyan Xu; Yuehua Guo; Zhijie Liu; Liling Wang; Jiahui Li; Fengjuan Zhang; Yan Kou; Xin Yuan
Journal:  Medicine (Baltimore)       Date:  2019-10       Impact factor: 1.817

Review 6.  Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Authors:  Jing Liu; Qin Liu; Shuting Yang; Na Ma; Jialun Pang; Ying Peng; Hui Xi; Zhengjun Jia; Yingchun Luo; Meiping Jiang; Yanling Teng; Wenxian Yu; Zhuo Li; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2021-07-22       Impact factor: 2.183
  6 in total

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