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hypopituitarism-short stature-skeletal anomaly syndrome相关文献:
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M.
Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4.
PMID:35246453
AFF4-Related CHOPS Syndrome.
Izumi K, Raible S, Krantz I.
2026 Feb 19. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:41712746
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Avci Durmusalioglu E, Isik E, Turkut Tan T, Dogan YC, Nur B, Yeter B, Sanri A, Uludag Alkaya D, Ozturk Yilmaz S, Akalin A, Urel Demir G, Yilmaz A, Sogukpinar M, Yilmaz Bayer O, Giray Bozkaya O, Sezer O, Simsek Kiper PO, Utine GE, Tuysuz B, Cogulu O, Mihci E, Atik T.
Am J Med Genet A. 2025 Oct;197(10):e64128. doi: 10.1002/ajmg.a.64128. Epub 2025 Jun 3.
PMID:40459271
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A.
J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141.
PMID:37586838
The etiology of osteosarcoma.
Ottaviani G, Jaffe N.
Cancer Treat Res. 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2.
PMID:20213384
Kabuki syndrome: clinical and molecular characteristics.
Cheon CK, Ko JM.
Korean J Pediatr. 2015 Sep;58(9):317-24. doi: 10.3345/kjp.2015.58.9.317. Epub 2015 Sep 21.
PMID:26512256
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.
Serra G, Elefante P, Gazzitano Y, Memo L, Mineo V, Morando C, Nardello R, Piro E, Travan L, Corsello G.
Ital J Pediatr. 2025 Feb 21;51(1):54. doi: 10.1186/s13052-025-01884-1.
PMID:39985057
Short root anomaly associated with Rothmund-Thomson syndrome.
Roinioti TD, Stefanopoulos PK.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan;103(1):e19-22. doi: 10.1016/j.tripleo.2006.07.021. Epub 2006 Oct 24.
PMID:17178481
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.
PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.
PMID:31034465
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Baptista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY, Vetrini F.
Brain. 2025 Aug 1;148(8):2658-2670. doi: 10.1093/brain/awaf035.
PMID:39918047
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