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Page 1
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Soblet J, et al. Among authors: syed s. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. J Invest Dermatol. 2017. PMID: 27519652 Free article.
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Brouillard P, Ghassibé M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Brouillard P, et al. Among authors: syed s. J Med Genet. 2005 Feb;42(2):e13. doi: 10.1136/jmg.2004.024174. J Med Genet. 2005. PMID: 15689436 Free PMC article.
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P, Boon LM, Revencu N, Berg J, Dompmartin A, Dubois J, Garzon M, Holden S, Kangesu L, Labrèze C, Lynch SA, McKeown C, Meskauskas R, Quere I, Syed S, Vabres P, Wassef M, Mulliken JB, Vikkula M; GVM Study Group. Brouillard P, et al. Among authors: syed s. Mol Syndromol. 2013 Apr;4(4):157-64. doi: 10.1159/000348675. Epub 2013 Mar 26. Mol Syndromol. 2013. PMID: 23801931 Free PMC article.
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: syed s. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M. Isoldi S, et al. Among authors: syed sb. Dig Liver Dis. 2019 Nov;51(11):1537-1546. doi: 10.1016/j.dld.2019.04.020. Epub 2019 Jul 26. Dig Liver Dis. 2019. PMID: 31358484
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
Polubothu S, Al-Olabi L, Carmen Del Boente M, Chacko A, Eleftheriou G, Glover M, Jiménez-Gallo D, Jones EA, Lomas D, Fölster-Holst R, Syed S, Tasani M, Thomas A, Tisdall M, Torrelo A, Aylett S, Kinsler VA. Polubothu S, et al. Among authors: syed s. J Invest Dermatol. 2020 May;140(5):1110-1113. doi: 10.1016/j.jid.2019.10.019. Epub 2019 Dec 12. J Invest Dermatol. 2020. PMID: 31838126 Free PMC article. No abstract available.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: syed sb. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free PMC article.
1,338 results