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Page 1
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: chitayat d. Prenat Diagn. 2024 Dec;44(13):1647-1658. doi: 10.1002/pd.6700. Epub 2024 Nov 14. Prenat Diagn. 2024. PMID: 39542847 Free PMC article.
Mesencephalosynapsis and aqueductal stenosis.
Fisher Y, Shannon P, Greenberg O, Chitayat D, Chong K, Blaser S, Shinar S. Fisher Y, et al. Among authors: chitayat d. J Neuropathol Exp Neurol. 2024 Dec 10:nlae128. doi: 10.1093/jnen/nlae128. Online ahead of print. J Neuropathol Exp Neurol. 2024. PMID: 39658320
MGA-related syndrome: A proposed novel disorder.
McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. McGivern B, et al. Among authors: chitayat d. HGG Adv. 2024 Nov 26;6(1):100387. doi: 10.1016/j.xhgg.2024.100387. Online ahead of print. HGG Adv. 2024. PMID: 39600096 Free article.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Associations and outcomes of prenatally detected rhombencephalosynapsis.
Kunpalin Y, Miller E, Raghuram K, Shannon P, Fisher Y, Chau V, Toi A, Chitayat D, Blaser S, Shinar S. Kunpalin Y, et al. Among authors: chitayat d. Prenat Diagn. 2024 Sep;44(10):1159-1169. doi: 10.1002/pd.6620. Epub 2024 Jun 5. Prenat Diagn. 2024. PMID: 38840304
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: chitayat d. Eur J Hum Genet. 2024 Jul;32(7):795-803. doi: 10.1038/s41431-024-01629-4. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778082 Free PMC article.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: chitayat d. Am J Hum Genet. 2024 Jun 6;111(6):1206-1221. doi: 10.1016/j.ajhg.2024.04.019. Epub 2024 May 20. Am J Hum Genet. 2024. PMID: 38772379 Free PMC article.
567 results