These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
164 related articles for article (PubMed ID: 20833799)
1. Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy. Tenney JR; Hopkin RJ; Schapiro MB J Child Neurol; 2011 Feb; 26(2):223-7. PubMed ID: 20833799 [TBL] [Abstract][Full Text] [Related]
2. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996 [TBL] [Abstract][Full Text] [Related]
3. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Nagamani SC; Zhang F; Shchelochkov OA; Bi W; Ou Z; Scaglia F; Probst FJ; Shinawi M; Eng C; Hunter JV; Sparagana S; Lagoe E; Fong CT; Pearson M; Doco-Fenzy M; Landais E; Mozelle M; Chinault AC; Patel A; Bacino CA; Sahoo T; Kang SH; Cheung SW; Lupski JR; Stankiewicz P J Med Genet; 2009 Dec; 46(12):825-33. PubMed ID: 19584063 [TBL] [Abstract][Full Text] [Related]
4. Genomic copy number variations at 17p13.3 and epileptogenesis. Shimojima K; Sugiura C; Takahashi H; Ikegami M; Takahashi Y; Ohno K; Matsuo M; Saito K; Yamamoto T Epilepsy Res; 2010 May; 89(2-3):303-9. PubMed ID: 20227246 [TBL] [Abstract][Full Text] [Related]
5. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. Dhamija R; Breningstall G; Wong-Kisiel L; Dolan M; Hirsch B; Wirrell E Pediatr Neurol; 2011 Jul; 45(1):60-2. PubMed ID: 21723464 [TBL] [Abstract][Full Text] [Related]
6. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Schiff M; Delahaye A; Andrieux J; Sanlaville D; Vincent-Delorme C; Aboura A; Benzacken B; Bouquillon S; Elmaleh-Berges M; Labalme A; Passemard S; Perrin L; Manouvrier-Hanu S; Edery P; Verloes A; Drunat S Eur J Med Genet; 2010; 53(5):303-8. PubMed ID: 20599530 [TBL] [Abstract][Full Text] [Related]
7. 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization. Romano C; Ferranti S; Mencarelli MA; Longo I; Renieri A; Grosso S Neurol Sci; 2020 Aug; 41(8):2259-2262. PubMed ID: 32323081 [TBL] [Abstract][Full Text] [Related]
8. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Cardoso C; Leventer RJ; Ward HL; Toyo-Oka K; Chung J; Gross A; Martin CL; Allanson J; Pilz DT; Olney AH; Mutchinick OM; Hirotsune S; Wynshaw-Boris A; Dobyns WB; Ledbetter DH Am J Hum Genet; 2003 Apr; 72(4):918-30. PubMed ID: 12621583 [TBL] [Abstract][Full Text] [Related]
9. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Liu X; Bennison SA; Robinson L; Toyo-Oka K Brain Sci; 2021 Dec; 12(1):. PubMed ID: 35053800 [TBL] [Abstract][Full Text] [Related]
10. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. Roos L; Jønch AE; Kjaergaard S; Taudorf K; Simonsen H; Hamborg-Petersen B; Brøndum-Nielsen K; Kirchhoff M J Med Genet; 2009 Oct; 46(10):703-10. PubMed ID: 19520700 [TBL] [Abstract][Full Text] [Related]
11. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Reiner O; Carrozzo R; Shen Y; Wehnert M; Faustinella F; Dobyns WB; Caskey CT; Ledbetter DH Nature; 1993 Aug; 364(6439):717-21. PubMed ID: 8355785 [TBL] [Abstract][Full Text] [Related]
12. [A case of Miller-Dieker syndrome associated with satellite on chromosome 17p]. Obara Y; Koseki N; Fujiwara J; Kikuchi M; Miura T; Funato T; Kaku M Rinsho Byori; 2001 Feb; 49(2):189-92. PubMed ID: 11307315 [TBL] [Abstract][Full Text] [Related]
13. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay. Chen CP; Chang SY; Lin SP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Wang W Taiwan J Obstet Gynecol; 2018 Oct; 57(5):765-768. PubMed ID: 30342670 [No Abstract] [Full Text] [Related]
14. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. Capra V; Mirabelli-Badenier M; Stagnaro M; Rossi A; Tassano E; Gimelli S; Gimelli G BMC Med Genet; 2012 Oct; 13():93. PubMed ID: 23035971 [TBL] [Abstract][Full Text] [Related]
16. Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. Elias RC; Galera MF; Schnabel B; Briones MR; Borri ML; Lipay M; Carvalheira G; Brunoni D; Melaragno MI Pediatr Neurol; 2006 Jul; 35(1):42-6. PubMed ID: 16814084 [TBL] [Abstract][Full Text] [Related]
17. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome. Izumi K; Kuratsuji G; Ikeda K; Takahashi T; Kosaki K Pediatr Neurol; 2007 Apr; 36(4):258-60. PubMed ID: 17437911 [TBL] [Abstract][Full Text] [Related]
18. [Miller-Dieker syndrome: a new case with cerebral echographic study]. Vaquerizo-Madrid J; Gómez-Martín H; Rincón-Rodera P; Alonso-Luengo O Rev Neurol; 2000 Jan 1-15; 30(1):48-50. PubMed ID: 10742996 [TBL] [Abstract][Full Text] [Related]
19. Spatial organization of ABR and CRK genes on human chromosome band 17p13.3. Morris C; Benjes S; Haataja L; Ledbetter DH; Heisterkamp N; Groffen J Oncogene; 1995 Mar; 10(5):1009-11. PubMed ID: 7898918 [TBL] [Abstract][Full Text] [Related]
20. DNA analysis in patients with lissencephaly type I and other cortical dysplasias. Oostra BA; de Rijk-van Andel JF; Eussen HJ; van Hemel JO; Halley DJ; Niermeijer MF Am J Med Genet; 1991 Sep; 40(3):383-6. PubMed ID: 1951447 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]