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Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.
Blanton LV, San Roman AK, Wood G, Buscetta A, Banks N, Skaletsky H, Godfrey AK, Pham TT, Hughes JF, Brown LG, Kruszka P, Lin AE, Kastner DL, Muenke M, Page DC. Blanton LV, et al. Among authors: lin ae. Cell Genom. 2024 Sep 11;4(9):100628. doi: 10.1016/j.xgen.2024.100628. Epub 2024 Aug 6. Cell Genom. 2024. PMID: 39111319 Free PMC article.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Among authors: lin ae. Cell Genom. 2024 Jan 10;4(1):100462. doi: 10.1016/j.xgen.2023.100462. Epub 2023 Dec 13. Cell Genom. 2024. PMID: 38190107 Free PMC article.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Among authors: lin ae. bioRxiv [Preprint]. 2023 Jun 7:2023.06.05.543763. doi: 10.1101/2023.06.05.543763. bioRxiv. 2023. Update in: Cell Genom. 2024 Jan 10;4(1):100462. doi: 10.1016/j.xgen.2023.100462. PMID: 37333288 Free PMC article. Updated. Preprint.
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group; Backeljauw PF. Gravholt CH, et al. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. Eur J Endocrinol. 2024. PMID: 38748847
Cardiovascular Considerations Before Cancer Therapy: Gaps in Evidence and JACC: CardioOncology Expert Panel Recommendations.
Raisi-Estabragh Z, Murphy AC, Ramalingam S, Scherrer-Crosbie M, Lopez-Fernandez T, Reynolds KL, Aznar M, Lin AE, Libby P, Cordoba R, Bredsen-Masley C, Wechalekar A, Apperley J, Cheng RK, Manisty CH. Raisi-Estabragh Z, et al. Among authors: lin ae. JACC CardioOncol. 2024 Sep 24;6(5):631-654. doi: 10.1016/j.jaccao.2024.07.017. eCollection 2024 Oct. JACC CardioOncol. 2024. PMID: 39479317 Free PMC article. Review.
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuzé Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I. Nicoletti P, et al. Among authors: lin ae. Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17. Genet Med Open. 2024. PMID: 39345948 Free PMC article.
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: lin ae. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01690-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256535 No abstract available.
Gain-of-function variants in SMAD4 compromise respiratory epithelial function.
Lindsay ME, Scimone ER, Lawton J, Richa R, Yonker LM, Di YP, Buch K, Ouyang W, Mo X, Lin AE, Mou H. Lindsay ME, et al. Among authors: lin ae. J Allergy Clin Immunol. 2024 Sep 5:S0091-6749(24)00908-4. doi: 10.1016/j.jaci.2024.08.024. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39243984
310 results