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545 results

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Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
Postema FA, Hopman SM, de Borgie CA, Hammond P, Hennekam RC, Merks JH; TuPS study group; Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, Wagner A; TuPS study group. Postema FA, et al. Among authors: hennekam rc. BMJ Open. 2017 Jan 20;7(1):e013237. doi: 10.1136/bmjopen-2016-013237. BMJ Open. 2017. PMID: 28110285 Free PMC article.
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 Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.
Cristea I, Abarca H, Christensen Mellgren AE, Trubnykova M, Mehrasa R, Peters DJM, Houge G, Hennekam RCM, Rødahl E, Bruland O, Bredrup C. Cristea I, et al. Among authors: hennekam rcm. FEBS Lett. 2023 May;597(9):1290-1299. doi: 10.1002/1873-3468.14597. Epub 2023 Feb 24. FEBS Lett. 2023. PMID: 36776133 Free article.
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
Kooblall KG, Stevenson M, Heilig R, Stewart M, Wright B, Lockstone H, Buck D, Fischer R, Wells S, Lines KE, Teboul L, Hennekam RC, Thakker RV. Kooblall KG, et al. Among authors: hennekam rc. JBMR Plus. 2024 May 15;8(7):ziae060. doi: 10.1093/jbmrpl/ziae060. eCollection 2024 Jul. JBMR Plus. 2024. PMID: 38827116 Free PMC article.
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 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
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.
545 results