Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1
Tài liệu tham khảo
Behmel, 1984, A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?, Hum. Genet., 67, 409, 10.1007/BF00291401
Cottereau, 2013, Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature, Am. J. Med. Genet. C Semin. Med. Genet., 163C, 92, 10.1002/ajmg.c.31360
Golabi, 1984, A new X-linked mental retardation-overgrowth syndrome, Am. J. Med. Genet., 17, 345, 10.1002/ajmg.1320170128
Kehrer, 2016, Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome, Prenat. Diagn., 36, 961, 10.1002/pd.4920
Livak, 2001, Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method, Methods, 25, 402, 10.1006/meth.2001.1262
Mariani, 2003, Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature, J. Pediatr. Endocrinol. Metab., 16, 225, 10.1515/JPEM.2003.16.2.225
Mateos, 2013, Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene, Am. J. Med. Genet., 161A, 1091, 10.1002/ajmg.a.35738
Mujezinovic, 2016, Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications, Clin. Genet., 90, 99, 10.1111/cge.12725
Ochiai, 2013, Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report, Eur. J. Obstet. Gynecol. Reprod. Biol., 171, 388, 10.1016/j.ejogrb.2013.09.044
Pilia, 1996, Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome, Nat. Genet., 12, 241, 10.1038/ng0396-241
Punnett, 1994, Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation, Am. J. Med. Genet., 50, 391, 10.1002/ajmg.1320500424
Shimojima, 2016, Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome, Hum. Genome Rev., 3, 16033, 10.1038/hgv.2016.33
Simpson, 1975, A previously unrecognized X-linked syndrome of dysmorphia, Birth Defects Orig. Artic. Ser., 11, 18
Tenorio, 2014, Simpson-Golabi-Behmel syndrome types I and II, Orphanet J. Rare Dis., 9, 138, 10.1186/s13023-014-0138-0
Vaisfeld, 2017, Simpson-Golabi-Behmel syndrome in a female: a case report and an unsolved issue, Am. J. Med. Genet., 173, 285, 10.1002/ajmg.a.38003
Veugelers, 1998, GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome, Genomics, 53, 1, 10.1006/geno.1998.5465
Veugelers, 2000, Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene, Hum. Mol. Genet., 9, 1321, 10.1093/hmg/9.9.1321
Waterson, 2010, Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome, Am. J. Med. Genet., 152A, 3179, 10.1002/ajmg.a.33450
Yano, 2011, Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations, Clin. Genet., 80, 466, 10.1111/j.1399-0004.2010.01554.x