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Showing results for n haghshenas
Search for n haqshenas instead (2 results)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with variants affecting CBP (n = 71) or p300 (n = 11) (NP_004371.2 residues 1,705-1,875 and NP_001420.2 residues 1,668-1,833, respe …
To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with …
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
2,4-Dibromo-6-[(E)-({3-[(E)-(3,5-dibromo-2-oxidobenzyl-idene)aza-nium-yl]-2,2-dimethyl-prop-yl}iminium-yl)meth-yl]phenolate.
Kargar H, Kia R, Haghshenas M, Tahir MN. Kargar H, et al. Acta Crystallogr Sect E Struct Rep Online. 2012 Feb 1;68(Pt 2):o323. doi: 10.1107/S1600536811055899. Epub 2012 Jan 11. Acta Crystallogr Sect E Struct Rep Online. 2012. PMID: 22346957 Free PMC article.
In the title mol-ecule, C(19)H(18)Br(4)N(2)O(2), the dihedral angle between the benzene rings is 73.9 (2) . Two intra-molecular N-H O hydrogen bonds make S(6) ring motifs. ...
In the title mol-ecule, C(19)H(18)Br(4)N(2)O(2), the dihedral angle between the benzene rings is 73.9 (2) . Two intra-molecular N …
{4,4',6,6'-Tetra-bromo-2,2'-[(2,2-dimethyl-propane-1,3-di-yl)bis-(nitrilo-methanylyl-idene)]diphenolato}copper(II).
Kargar H, Kia R, Haghshenas M, Tahir MN. Kargar H, et al. Acta Crystallogr Sect E Struct Rep Online. 2012 Apr 1;68(Pt 4):m392. doi: 10.1107/S1600536812009397. Epub 2012 Mar 10. Acta Crystallogr Sect E Struct Rep Online. 2012. PMID: 22589779 Free PMC article.
In the title compound, [Cu(C(19)H(16)Br(4)N(2)O(2))], the Cu(II) ion and the substituted C atom of the diamine fragment lie on a crystallographic twofold rotation axis. The geometry around the Cu(II) ion is distorted square-planar, which is defined by the N(2)O(2) d …
In the title compound, [Cu(C(19)H(16)Br(4)N(2)O(2))], the Cu(II) ion and the substituted C atom of the diamine fragment lie on a crys …
Validation of a methylation-based, tissue-free MRD assay in colorectal cancer patients from the GALAXY study.
Nakamura Y, Reiter JG, Natarajan P, Babiarz J, Srinivasan P, Joshi J, Lin Y, Chen TC, Liang N, Maw S, Haghshenas E, Kushwaha G, Gutman B, Tunc I, Chan WC, Tin A, Huang Y, Bristow SL, Malhotra M, Sharma S, Sanchez SA, Jurdi A, Liu MC, Kawli T, Rabinowitz M, Aleshin A, Kotani D, Eiji O, Yoshino T. Nakamura Y, et al. NPJ Precis Oncol. 2026 Jan 19;10(1):70. doi: 10.1038/s41698-026-01277-5. NPJ Precis Oncol. 2026. PMID: 41555007 Free PMC article.
Publication Productivity of Orthopaedic Surgery Chairs.
Zelle BA, Weathers MA, Fajardo RJ, Haghshenas V, Bhandari M. Zelle BA, et al. J Bone Joint Surg Am. 2017 Jun 21;99(12):e62. doi: 10.2106/JBJS.16.00587. J Bone Joint Surg Am. 2017. PMID: 28632599
RESULTS: During the 7 years prior to their appointment to chair, the mean number of total publications was significantly higher for university chairs (n = 58.6, range 0 to 217) than for non-university chairs (n = 29.1, range 0 to 13) (p = 0.003). ...
RESULTS: During the 7 years prior to their appointment to chair, the mean number of total publications was significantly higher for universi …
57 results