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10. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. Shaheen R; Al Tala S; Almoisheer A; Alkuraya FS J Med Genet; 2014 Dec; 51(12):814-6. PubMed ID: 25320347 [TBL] [Abstract][Full Text] [Related]
11. Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. Marakhonov AV; Konovalov FA; Makaov AK; Vasilyeva TA; Kadyshev VV; Galkina VA; Dadali EL; Kutsev SI; Zinchenko RA BMC Med Genomics; 2018 Feb; 11(Suppl 1):8. PubMed ID: 29504900 [TBL] [Abstract][Full Text] [Related]
12. CtIP Mutations Cause Seckel and Jawad Syndromes. Qvist P; Huertas P; Jimeno S; Nyegaard M; Hassan MJ; Jackson SP; Børglum AD PLoS Genet; 2011 Oct; 7(10):e1002310. PubMed ID: 21998596 [TBL] [Abstract][Full Text] [Related]
13. Seckel syndrome with chromosomal 18 deletion. Panigrahi I; Kaur S; Kulkarni K; Das R; Marwaha RK Indian J Pediatr; 2009 Dec; 76(12):1270-1. PubMed ID: 20012807 [TBL] [Abstract][Full Text] [Related]
14. [A new (brachymelic) type of primordial dwarfism (author's transl)]. Majewski F; Spranger J Monatsschr Kinderheilkd (1902); 1976 Jun; 124(6):499-503. PubMed ID: 934161 [TBL] [Abstract][Full Text] [Related]
15. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. Mochida GH; Rajab A; Eyaid W; Lu A; Al-Nouri D; Kosaki K; Noruzinia M; Sarda P; Ishihara J; Bodell A; Apse K; Walsh CA J Med Genet; 2004 Jun; 41(6):e87. PubMed ID: 15173253 [No Abstract] [Full Text] [Related]
16. Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. Dinçer T; Yorgancıoğlu-Budak G; Ölmez A; Er İ; Dodurga Y; Özdemir ÖM; Toraman B; Yıldırım A; Sabir N; Akarsu NA; Semerci CN; Kalay E Eur J Hum Genet; 2017 Oct; 25(10):1118-1125. PubMed ID: 28832566 [TBL] [Abstract][Full Text] [Related]
17. Is the novel SCKL3 at 14q23 the predominant Seckel locus? Kilinç MO; Ninis VN; Ugur SA; Tüysüz B; Seven M; Balci S; Goodship J; Tolun A Eur J Hum Genet; 2003 Nov; 11(11):851-7. PubMed ID: 14571270 [TBL] [Abstract][Full Text] [Related]
18. Novel SLC9A6 mutations in two families with Christianson syndrome. Riess A; Rossier E; Krüger R; Dufke A; Beck-Woedl S; Horber V; Alber M; Gläser D; Riess O; Tzschach A Clin Genet; 2013 Jun; 83(6):596-7. PubMed ID: 22931061 [No Abstract] [Full Text] [Related]
19. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Alazami AM; Al-Owain M; Alzahrani F; Shuaib T; Al-Shamrani H; Al-Falki YH; Al-Qahtani SM; Alsheddi T; Colak D; Alkuraya FS Hum Mutat; 2012 Oct; 33(10):1429-34. PubMed ID: 22865833 [TBL] [Abstract][Full Text] [Related]