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669 results

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Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.
Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Silverman EK, et al. Among authors: barth m. Hum Mol Genet. 2002 Mar 15;11(6):623-32. doi: 10.1093/hmg/11.6.623. Hum Mol Genet. 2002. PMID: 11912177
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease.
Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Silverman EK, et al. Among authors: barth m. Am J Hum Genet. 2002 May;70(5):1229-39. doi: 10.1086/340316. Epub 2002 Mar 25. Am J Hum Genet. 2002. PMID: 11914989 Free PMC article.
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E. Milon V, et al. Among authors: barth m. Eur J Hum Genet. 2024 May 28. doi: 10.1038/s41431-024-01631-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38806662
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: barth m. Ann Clin Transl Neurol. 2024 May 15. doi: 10.1002/acn3.52079. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free article.
Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study.
Labounek R, Bondy MT, Paulson AL, Bédard S, Abramovic M, Alonso-Ortiz E, Atcheson NT, Barlow LR, Barry RL, Barth M, Battiston M, Büchel C, Budde MD, Callot V, Combes A, De Leener B, Descoteaux M, de Sousa PL, Dostál M, Doyon J, Dvorak AV, Eippert F, Epperson KR, Epperson KS, Freund P, Finsterbusch J, Foias A, Fratini M, Fukunaga I, Gandini Wheeler-Kingshott CAM, Germani G, Gilbert G, Giove F, Grussu F, Hagiwara A, Henry PG, Horák T, Hori M, Joers JM, Kamiya K, Karbasforoushan H, Keřkovský M, Khatibi A, Kim JW, Kinany N, Kitzler H, Kolind S, Kong Y, Kudlička P, Kuntke P, Kurniawan ND, Kusmia S, Laganà MM, Laule C, Law CSW, Leutritz T, Liu Y, Llufriu S, Mackey S, Martin AR, Martinez-Heras E, Mattera L, O'Grady KP, Papinutto N, Papp D, Pareto D, Parrish TB, Pichiecchio A, Prados F, Rovira À, Ruitenberg MJ, Samson RS, Savini G, Seif M, Seifert AC, Smith AK, Smith SA, Smith ZA, Solana E, Suzuki Y, Tackley GW, Tinnermann A, Valošek J, Van De Ville D, Yiannakas MC, Weber KA 2nd, Weiskopf N, Wise RG, Wyss PO, Xu J, Cohen-Adad J, Lenglet C, Nestrašil I. Labounek R, et al. Among authors: barth m. bioRxiv [Preprint]. 2024 May 1:2024.04.29.591421. doi: 10.1101/2024.04.29.591421. bioRxiv. 2024. PMID: 38746371 Free PMC article. Preprint.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: barth m. Am J Hum Genet. 2024 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print. Am J Hum Genet. 2024. PMID: 38744284 Free article.
669 results