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2010 1
2012 4
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34 results

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Page 1
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY mal …
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A. Vuillaume ML, et al. Eur J Hum Genet. 2019 Apr;27(4):663-668. doi: 10.1038/s41431-019-0339-z. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683921 Free PMC article.
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....
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 …
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G, Arossa A, Ghirardello S, Kalantari S, Rossi C, Bonasoni MP, Cesari S, Rizzuti T, Giorgio E, Bassanese F, Scatigno AL, Meroni A, Melito C, Feltri M, Longo S, Figar TA, Andorno A, Gelli MC, Bertozzi M, Spinillo A, Riccipetitoni G, Valente EM, Paulli M, Sirchia F. Fiandrino G, et al. Placenta. 2022 Aug;126:119-124. doi: 10.1016/j.placenta.2022.06.011. Epub 2022 Jun 30. Placenta. 2022. PMID: 35796063
DISCUSSION: Immunohistochemical expression of GPC3 in the placenta is highly reproducible. Our findings showed that a "null pattern" of staining is predictive of SGBS1 and represents a valuable aid in the differential diagnosis of fetal macrosomias, allowing targeted genet …
DISCUSSION: Immunohistochemical expression of GPC3 in the placenta is highly reproducible. Our findings showed that a "null pattern" of stai …
Transcriptomic analysis of Simpson Golabi Behmel syndrome cells during differentiation exhibit BAT-like function.
Colitti M, Ali U, Wabitsch M, Tews D. Colitti M, et al. Tissue Cell. 2022 Aug;77:101822. doi: 10.1016/j.tice.2022.101822. Epub 2022 May 18. Tissue Cell. 2022. PMID: 35623306
High-throughput RNA sequencing of human Simpson-Golabi-Behmel syndrome cells (SGBS) was performed during the time-course of adipogenic differentiation at day 4 (D04), 6 (D06), 8 (D08), and 10 (D10) to characterize transcriptomic changes and to identify key patterns involve …
High-throughput RNA sequencing of human Simpson-Golabi-Behmel syndrome cells (SGBS) was performed during the time-course of adipogeni …
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC …
This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Ro …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty....
An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global developmen …
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Hum Mutat. 2018. PMID: 29637653
The vast majority of them are deletions or truncating mutations (frameshift, nonsense mutations) predicted to result in a loss-of-function. Missense mutations are rare and the two which were functionally characterized, impaired GPC3 function by preventing GPC3 cleavage and …
The vast majority of them are deletions or truncating mutations (frameshift, nonsense mutations) predicted to result in a loss-of-fun …
Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.
Andrysiak-Mamos E, Sagan KP, Lietz-Kijak D, Kijak E, Kaźmierczak B, Pietrzyk A, Sowinska-Przepiera E, Sagan L, Syrenicz A. Andrysiak-Mamos E, et al. Am J Med Genet A. 2019 Feb;179(2):322-328. doi: 10.1002/ajmg.a.61013. Epub 2018 Dec 28. Am J Med Genet A. 2019. PMID: 30592149
SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may be due to both the high mortality of SGBS patients in childhood and low rate of SGBS diagnosis in adults. ...
SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may …
34 results