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Ehlers-Danlos syndrome and multiple sclerosis: a possible association.
Vilisaar J, Harikrishnan S, Suri M, Constantinescu CS. Vilisaar J, et al. Mult Scler. 2008 May;14(4):567-70. doi: 10.1177/1352458507083187. Epub 2008 Jan 21. Mult Scler. 2008. PMID: 18208891
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J. Gannon T, et al. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F. Syx D, et al. Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Hum Mutat. 2015. PMID: 25703627 Review.
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome.
Tanteles GA, Oakley S, Christian M, O'neill D, Suri M. Tanteles GA, et al. Clin Dysmorphol. 2011 Jul;20(3):131-5. doi: 10.1097/MCD.0b013e328346f6dc. Clin Dysmorphol. 2011. PMID: 21552011 No abstract available.
7q11.23 Microduplication: a recognizable phenotype.
Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. Dixit A, et al. Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8. Clin Genet. 2013. PMID: 22369319
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.
Dixit A, Patel C, Harrison R, Jarvis J, Hulton S, Smith N, Yates K, Silcock L, McMullan DJ, Suri M. Dixit A, et al. Am J Med Genet A. 2012 Sep;158A(9):2317-21. doi: 10.1002/ajmg.a.35520. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887843
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
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