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7. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Koolen DA; Kramer JM; Neveling K; Nillesen WM; Moore-Barton HL; Elmslie FV; Toutain A; Amiel J; Malan V; Tsai AC; Cheung SW; Gilissen C; Verwiel ET; Martens S; Feuth T; Bongers EM; de Vries P; Scheffer H; Vissers LE; de Brouwer AP; Brunner HG; Veltman JA; Schenck A; Yntema HG; de Vries BB Nat Genet; 2012 Apr; 44(6):639-41. PubMed ID: 22544363 [TBL] [Abstract][Full Text] [Related]
8. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. Arbogast T; Iacono G; Chevalier C; Afinowi NO; Houbaert X; van Eede MC; Laliberte C; Birling MC; Linda K; Meziane H; Selloum M; Sorg T; Nadif Kasri N; Koolen DA; Stunnenberg HG; Henkelman RM; Kopanitsa M; Humeau Y; De Vries BBA; Herault Y PLoS Genet; 2017 Jul; 13(7):e1006886. PubMed ID: 28704368 [TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Girirajan S; Vlangos CN; Szomju BB; Edelman E; Trevors CD; Dupuis L; Nezarati M; Bunyan DJ; Elsea SH Genet Med; 2006 Jul; 8(7):417-27. PubMed ID: 16845274 [TBL] [Abstract][Full Text] [Related]
10. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Myers KA; Mandelstam SA; Ramantani G; Rushing EJ; de Vries BB; Koolen DA; Scheffer IE Epilepsia; 2017 Jun; 58(6):1085-1094. PubMed ID: 28440867 [TBL] [Abstract][Full Text] [Related]
11. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME. Uctepe E; Aktas D; Alikasifoglu M; Gunduz E; Sonmez FM Genet Couns; 2016; 27(3):357-365. PubMed ID: 30204964 [TBL] [Abstract][Full Text] [Related]
12. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Sharkey FH; Morrison N; Murray R; Iremonger J; Stephen J; Maher E; Tolmie J; Jackson AP Cytogenet Genome Res; 2009; 127(1):61-6. PubMed ID: 20110647 [TBL] [Abstract][Full Text] [Related]
13. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Rio M; Clech L; Amiel J; Faivre L; Lyonnet S; Le Merrer M; Odent S; Lacombe D; Edery P; Brauner R; Raoul O; Gosset P; Prieur M; Vekemans M; Munnich A; Colleaux L; Cormier-Daire V J Med Genet; 2003 Jun; 40(6):436-40. PubMed ID: 12807965 [TBL] [Abstract][Full Text] [Related]
14. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258 [TBL] [Abstract][Full Text] [Related]
16. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799 [TBL] [Abstract][Full Text] [Related]
17. The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review. Karamik G; Tuysuz B; Isik E; Yilmaz A; Alanay Y; Sunamak EC; Durmusalioglu EA; Ozkinay F; Cetin GO; Ozturk N; Mihci E; Nur B Am J Med Genet A; 2023 Jul; 191(7):1814-1825. PubMed ID: 37053206 [TBL] [Abstract][Full Text] [Related]
18. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. Dingemans AJM; Stremmelaar DE; van der Donk R; Vissers LELM; Koolen DA; Rump P; Hehir-Kwa JY; de Vries BBA Eur J Hum Genet; 2021 Sep; 29(9):1418-1423. PubMed ID: 33603161 [TBL] [Abstract][Full Text] [Related]
19. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Shapira SK; McCaskill C; Northrup H; Spikes AS; Elder FF; Sutton VR; Korenberg JR; Greenberg F; Shaffer LG Am J Hum Genet; 1997 Sep; 61(3):642-50. PubMed ID: 9326330 [TBL] [Abstract][Full Text] [Related]
20. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. Vieira GH; Rodriguez JD; Carmona-Mora P; Cao L; Gamba BF; Carvalho DR; de Rezende Duarte A; Santos SR; de Souza DH; DuPont BR; Walz K; Moretti-Ferreira D; Srivastava AK Eur J Hum Genet; 2012 Feb; 20(2):148-54. PubMed ID: 21897445 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]