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4. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Kurahashi H; Wang JW; Ishii A; Kojima T; Wakai S; Kizawa T; Fujimoto Y; Kikkawa K; Yoshimura K; Inoue T; Yasumoto S; Ogawa A; Kaneko S; Hirose S Neurology; 2009 Oct; 73(15):1214-7. PubMed ID: 19822871 [TBL] [Abstract][Full Text] [Related]
5. Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. Ricard-Mousnier B; N'Guyen S; Dubas F; Pouplard F; Guichet A Epileptic Disord; 2007 Sep; 9(3):327-31. PubMed ID: 17884758 [TBL] [Abstract][Full Text] [Related]
6. "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Kosho T; Matsushima K; Sahashi T; Mitsui N; Fukushima Y; Sobajima H; Ohashi H Genet Couns; 2005; 16(1):65-70. PubMed ID: 15844781 [TBL] [Abstract][Full Text] [Related]
7. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114 [TBL] [Abstract][Full Text] [Related]
8. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies. Lorentz CP; Jalal SM; Thompson DM; Babovic-Vuksanovic D Am J Med Genet; 2002 Jul; 111(1):61-7. PubMed ID: 12124737 [TBL] [Abstract][Full Text] [Related]
9. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Ballif BC; Kashork CD; Shaffer LG Eur J Hum Genet; 2000 Oct; 8(10):764-70. PubMed ID: 11039576 [TBL] [Abstract][Full Text] [Related]
10. Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. Gibbons B; Tan SY; Tam PY Singapore Med J; 1999 Apr; 40(4):273-5. PubMed ID: 10487083 [TBL] [Abstract][Full Text] [Related]
11. Ring-20-syndrome and loss of telomeric regions. García-Cruz D; Vásquez AI; Perez-Rulfo D; Dávalos NO; Peñaloza J; García-Ortiz JE; Patiño-García B; Sánchez-Corona J Ann Genet; 2000; 43(3-4):113-6. PubMed ID: 11164191 [TBL] [Abstract][Full Text] [Related]
12. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. Zou YS; Van Dyke DL; Thorland EC; Chhabra HS; Michels VV; Keefe JG; Lega MA; Feely MA; Uphoff TS; Jalal SM Am J Med Genet A; 2006 Aug; 140(15):1696-706. PubMed ID: 16835934 [TBL] [Abstract][Full Text] [Related]
13. Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. Laleye A; Alao MJ; Adjagba M; Hans C; Delneste D; Gnamey DK; Ayivi B; Darboux RB Genet Couns; 2006; 17(1):35-40. PubMed ID: 16719275 [TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Conlin LK; Kramer W; Hutchinson AL; Li X; Riethman H; Hakonarson H; Mulley JC; Scheffer IE; Berkovic SF; Hosain SA; Spinner NB J Med Genet; 2011 Jan; 48(1):1-9. PubMed ID: 20972251 [TBL] [Abstract][Full Text] [Related]
15. [Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome]. Villéga F; Ngayap H; Espil-Taris C; Husson M; Rooryck-Thambo C; Arveiler B; Lacombe D; Pédespan JM Arch Pediatr; 2011 Apr; 18(4):394-6. PubMed ID: 21397468 [TBL] [Abstract][Full Text] [Related]
16. Frequency of chromosome healing and interstitial telomeres in 40 cases of constitutional abnormalities. Fortin F; Beaulieu Bergeron M; Fetni R; Lemieux N Cytogenet Genome Res; 2009; 125(3):176-85. PubMed ID: 19738378 [TBL] [Abstract][Full Text] [Related]
17. Use of chromosome painting for marker chromosome identification in two children with congenital disorders. Doco-Fenzy M; Navrocki B; Cornillet P; Sabouraud P; Robillard P; Gruson N; Gaillard D; Adnet JJ Bull Assoc Anat (Nancy); 1994 Jun; 78(241):9-13. PubMed ID: 8086666 [TBL] [Abstract][Full Text] [Related]
18. A study of ring 20 chromosome karyotype with epilepsy. Yamadera H; Kobayashi K; Sugai K; Suda H; Kaneko S Psychiatry Clin Neurosci; 1998 Feb; 52(1):63-8. PubMed ID: 9682935 [TBL] [Abstract][Full Text] [Related]
19. A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. Morava E; Bartsch O; Czako M; Frensel A; Kárteszi J; Kosztolányi GY Genet Couns; 2003; 14(3):337-42. PubMed ID: 14577679 [TBL] [Abstract][Full Text] [Related]
20. Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism. Gradek GA; Kvistad PH; Houge G Eur J Med Genet; 2006; 49(4):292-7. PubMed ID: 16829350 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]