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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: hennekam rc. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
Molecular study of 33 families with Fraser syndrome new data and mutation review.
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group; Hennekam RC, Scambler PJ. van Haelst MM, et al. Among authors: hennekam rc. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440. Am J Med Genet A. 2008. PMID: 18671281
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
Bakhuizen JJ, Postema FAM, van Rijn RR, van Schuppen J, Duijkers FAM, van Noesel CJM, Hennekam RC, Jongmans MCJ, Savci-Heijink CD, Smetsers SE, Terheggen-Lagro SWJ, Hopman SMJ, Oomen MWN, Merks JHM. Bakhuizen JJ, et al. Among authors: hennekam rc. J Pediatr Surg. 2024 Mar;59(3):459-463. doi: 10.1016/j.jpedsurg.2023.10.031. Epub 2023 Oct 21. J Pediatr Surg. 2024. PMID: 37989646 Free article.
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.
Kooblall KG, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, Butterfield N, Leng H, Hough TA, Ma D, Siow B, Potter P, Cox RD, Brown SDM, Horwood N, Wright B, Lockstone H, Buck D, Vincent TL, Hannan FM, Bassett JHD, Williams GR, Lines KE, Piper M, Wells S, Teboul L, Hennekam RC, Thakker RV. Kooblall KG, et al. Among authors: hennekam rc. JBMR Plus. 2023 Mar 30;7(6):e10739. doi: 10.1002/jbm4.10739. eCollection 2023 Jun. JBMR Plus. 2023. PMID: 37283649 Free PMC article.
Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.
Kantaputra PN, Tripuwabhrut K, Anthonappa RP, Chintakanon K, Ngamphiw C, Adisornkanj P, Porntrakulseree N, Olsen B, Intachai W, Hennekam RC, Vieira AR, Tongsima S. Kantaputra PN, et al. Among authors: hennekam rc. Diagnostics (Basel). 2023 Mar 23;13(7):1214. doi: 10.3390/diagnostics13071214. Diagnostics (Basel). 2023. PMID: 37046432 Free PMC article.
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Among authors: hennekam rc. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.
544 results