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Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
Ercu M, Mücke MB, Pallien T, Markó L, Sholokh A, Schächterle C, Aydin A, Kidd A, Walter S, Esmati Y, McMurray BJ, Lato DF, Yumi Sunaga-Franze D, Dierks PH, Flores BIM, Walker-Gray R, Gong M, Merticariu C, Zühlke K, Russwurm M, Liu T, Batolomaeus TUP, Pautz S, Schelenz S, Taube M, Napieczynska H, Heuser A, Eichhorst J, Lehmann M, Miller DC, Diecke S, Qadri F, Popova E, Langanki R, Movsesian MA, Herberg FW, Forslund SK, Müller DN, Borodina T, Maass PG, Bähring S, Hübner N, Bader M, Klussmann E. Ercu M, et al. Among authors: kidd a. Circulation. 2022 Dec 6;146(23):1758-1778. doi: 10.1161/CIRCULATIONAHA.122.060210. Epub 2022 Oct 19. Circulation. 2022. PMID: 36259389
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Fischer B, et al. Among authors: kidd a. Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8. Hum Genet. 2012. PMID: 22773132
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: kidd am. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO. Twigg SR, et al. Among authors: kidd am. Am J Hum Genet. 2006 Jun;78(6):999-1010. doi: 10.1086/504440. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16685650 Free PMC article.
The spectrum of WRN mutations in Werner syndrome patients.
Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J. Huang S, et al. Among authors: kidd a. Hum Mutat. 2006 Jun;27(6):558-67. doi: 10.1002/humu.20337. Hum Mutat. 2006. PMID: 16673358 Free PMC article.
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM. Stankovic T, et al. Among authors: kidd am. Am J Hum Genet. 1998 Feb;62(2):334-45. doi: 10.1086/301706. Am J Hum Genet. 1998. PMID: 9463314 Free PMC article.
292 results