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Page 1
Simpson-Golabi-Behmel Syndrome Type 1.
Klein SD, Nisbet AF, Hathaway ER, Kalish JM. Klein SD, et al. 2006 Dec 19 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Dec 19 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301398 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormal …
CLINICAL CHARACTERISTICS: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal m …
Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G. Vaisfeld A, et al. Am J Med Genet C Semin Med Genet. 2024 May 20:e32088. doi: 10.1002/ajmg.c.32088. Online ahead of print. Am J Med Genet C Semin Med Genet. 2024. PMID: 38766979 Review.
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in fema …
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia …
Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy.
Reischer T, Laccone F, Kasprian GJ, Yerlikaya-Schatten G. Reischer T, et al. Clin Pract. 2021 Feb 2;11(1):75-80. doi: 10.3390/clinpract11010012. Clin Pract. 2021. PMID: 33540913 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, wh …
Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.
Guo Y, Zhang H, Fan L, Chen J, Zhang X, Yang H, Sun Y. Guo Y, et al. BMC Pregnancy Childbirth. 2022 Jan 17;22(1):42. doi: 10.1186/s12884-021-04309-z. BMC Pregnancy Childbirth. 2022. PMID: 35038998 Free PMC article. Review.
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. ...The genetic testing results of the larger baby indicated of Simpson-Golab …
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical mani …
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congeni …
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G. Vaisfeld A, et al. Am J Med Genet A. 2017 Jan;173(1):285-288. doi: 10.1002/ajmg.a.38003. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739211 Review.
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. ...
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, …
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.
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. ...
NAME OF THE DISEASE (SYNONYMS): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE …
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
Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1), a rare recessive X-linked overgrowth disease characterized by typical facial features, congenital abnormalities, and an increased risk of …
Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1 …
[Simpson-Golabi-Behmel syndrome].
Kubota T. Kubota T. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):638-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528938 Review. Japanese. No abstract available.
Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.
Fernandes C, Paúl A, Venâncio MM, Ramos F. Fernandes C, et al. Am J Med Genet A. 2021 Aug;185(8):2502-2506. doi: 10.1002/ajmg.a.62263. Epub 2021 May 18. Am J Med Genet A. 2021. PMID: 34003580
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked condition characterized by pre and postnatal overgrowth …
344 results