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352 results
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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Dufour W, Alawbathani S, Jourdain AS, Asif M, Baujat G, Becker C, Budde B, Gallacher L, Georgomanolis T, Ghoumid J, Höhne W, Lyonnet S, Ba-Saddik IA, Manouvrier-Hanu S, Motameny S, Noegel AA, Pais L, Vanlerberghe C, Wagle P, White SM, Willems M, Nürnberg P, Escande F, Petit F, Hussain MS. Dufour W, et al. Among authors: hussain ms. Genet Med. 2022 May 17:S1098-3600(22)00751-1. doi: 10.1016/j.gim.2022.04.022. Online ahead of print. Genet Med. 2022. PMID: 35583550
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif M, Kaygusuz E, Shinawi M, Nickelsen A, Hsieh TC, Wagle P, Budde BS, Hochscherf J, Abdullah U, Höning S, Nienberg C, Lindenblatt D, Noegel AA, Altmüller J, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Tinschert S, Samra NN, Savatt JM, Rudy NL, De Luca C; Italian Undiagnosed Diseases Network, Paola Fortugno, White SM, Krawitz P, Hurst ACE, Niefind K, Jose J, Brancati F, Nürnberg P, Hussain MS. Asif M, et al. Among authors: hussain ms. HGG Adv. 2022 Apr 18;3(3):100111. doi: 10.1016/j.xhgg.2022.100111. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35571680 Free PMC article.
Acute organoaxial gastric volvulus-A dangerous twist.
Chinnappan J, Hussain MS, Deliwala SS, Bachuwa G. Chinnappan J, et al. Among authors: hussain ms. Clin Case Rep. 2022 Apr 26;10(4):e05785. doi: 10.1002/ccr3.5785. eCollection 2022 Apr. Clin Case Rep. 2022. PMID: 35498355 Free PMC article.
Direct percutaneous endoscopic jejunostomy (DPEJ) and percutaneous endoscopic gastrostomy with jejunal extension (PEG-J) technical success and outcomes: Systematic review and meta-analysis.
Deliwala SS, Chandan S, Kumar A, Mohan B, Ponnapalli A, Hussain MS, Kaushal S, Novak J, Chawla S. Deliwala SS, et al. Among authors: hussain ms. Endosc Int Open. 2022 Apr 14;10(4):E488-E520. doi: 10.1055/a-1774-4736. eCollection 2022 Apr. Endosc Int Open. 2022. PMID: 35433212 Free PMC article. Review.
Clinical outcome of patients with mild pre-stroke morbidity following endovascular treatment: a HERMES substudy.
McDonough RV, Ospel JM, Majoie CBLM, Saver JL, White P, Dippel DWJ, Brown SB, Demchuk AM, Jovin TG, Mitchell PJ, Bracard S, Campbell BCV, Muir KW, Hill MD, Guillemin F, Goyal M; HERMES collaborators. McDonough RV, et al. J Neurointerv Surg. 2022 Feb 24:neurintsurg-2021-018428. doi: 10.1136/neurintsurg-2021-018428. Online ahead of print. J Neurointerv Surg. 2022. PMID: 35210331
352 results