Found 2 results
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C. P. Sodré, Guilherme, R. S., Meloni, V. F. A., Brunoni, D., Juliano, Y., Andrade, J. A. D., Belangero, S. I. N., Christofolini, D. M., Kulikowski, L. D., and Melaragno, M. I., Ring chromosome instability evaluation in six patients with autosomal rings, vol. 9, pp. 134-143, 2010.
Chitayat D, Hahm SY, Iqbal MA and Nitowsky HM (1987). Ring chromosome 6: report of a patient and literature review. Am. J. Med. Genet. 26: 145-151. PMid:3544845   Cote GB, Katsantoni A and Deligeorgis D (1981). The cytogenetic and clinical implications of a ring chromosome 2. Ann. Genet. 24: 231-235. PMid:6977305   de Almeida JC, Llerena JC Jr, Gomes DM, Martins RR, et al. (1983). Ring 13 in an adult male with a 13:13 translocation mother. Ann. Genet. 26: 112-115. PMid:6604485   Fang YY, Eyre HJ, Bohlander SK, Estop A, et al. (1995). Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4. Am. J. Hum. Genet. 57: 1137-1142. PMid:7485165 PMCid:1801376   Glass IA, Rauen KA, Chen E, Parkes J, et al. (2006). Ring chromosome 15: characterization by array CGH. Hum. Genet. 118: 611-617. PMid:16267671   Hecht F (1969). Ring-4 chromosome: Ring autosomes, Lorelei of clinical-kaotype correlation and deletion mapping. Birth Defects: Original Article Series V: 106-113.   Henegariu O, Pescovitz OH, Vance GH, Verbrugge J, et al. (1997). A case with mosaic di-, tetra-, and octacentric ring Y chromosomes. Am. J. Med. Genet. 71: 426-429.<426::AID-AJMG10>3.0.CO;2-I   Hernandez A, Garcia-Cruz D, Plascencia L, Nazara Z, et al. (1979). Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34). Ann. Genet. 22: 221-224. PMid:317785   Hockner M, Utermann B, Erdel M, Fauth C, et al. (2008). Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. Am. J. Med. Genet. A 146: 925-929. PMid:18302251   Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, et al. (2007). Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur. J. Hum. Genet. 15: 548-555. PMid:17342151   Koç A, Kan D, Karaer K, Ergun MA, et al. (2008). An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Eur. J. Pediatr. 167: 655-659. PMid:17668239   Kosztolányi G (1985). Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. Acta Paediatr. Hung. 26: 157-165.   Kosztolányi G (1987a). Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum. Genet. 75: 174-179. PMid:3817812   Kosztolányi G (1987b). Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure? Am. J. Med. Genet. 28: 181-184. PMid:3674110   Kosztolányi G (2009). The genetics and clinical caracteristics of constitutional ring chromosomes. J. Assoc. Genet. Technol. 35: 44-48. PMid:19443954   Kosztolányi G and Pap M (1986). Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15. Acta Paediatr. Scand. 75: 326-331. PMid:3962666   Le Caigne C, Boceno M, Jacquemont S, Nguyen The Tich S, et al. (2004). Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann. Genet. 47: 289-296. PMid:15337475   Ledbetter DH, Riccardi VM, Au WW, Wilson DP, et al. (1980). Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability. Cytogenet. Cell Genet. 27: 111-122. PMid:6156798   Lejeune JJ (1967). Modèle théorique de la répartition des duplications et des déficiences dans les chromosomes en anneau. C. R. Acad. Sci. Paris 264: 2568-2590.   Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, et al. (1988). Le chromosome 9 en anneau: à propos d'un cas et revue de la literature. (Rirg chromosome 9 p. Report of a case and review of literature). Ann. Genet. 31: 250-253. PMid:3265311   McDermott A, Voyce MA and Romain D (1977). Ring chromosome 4. J. Med. Genet. 14: 228-232. PMid:881718 PMCid:1013566   Melaragno MI and Smith MA (1990). Sister chromatid exchange and proliferation pattern in lymphocytes from newborns, elderly subjects and in premature aging syndromes. Mech. Ageing Dev. 54: 43-53.   Moore CM, Heller RH and Thomas GH (1973). Developmental abnormalities associated with a ring chromosome 6. J. Med. Genet. 10: 299-303. PMid:4774541 PMCid:1013038   Niss R and Passarge E (1975). Derivative chromosomal structures from a ring chromosome 4. Humangenetik 28: 9-23. PMid:1150264   Palmer CG, Hodes ME, Reed T and Kojetin J (1977). Four new cases of ring 21 and 22 including familial transmission of ring 21. J. Med. Genet. 14: 54-60. PMid:839502 PMCid:1013508   Peeden JN, Scarbrough P, Taysi K, Wilroy RS, et al. (1983). Ring chromosome 6: variability in phenotypic expression. Am. J. Med. Genet. 16: 563-573. PMid:6660249   Purandare SM, Lee J, Hassed S, Steele MI, et al. (2005). Ring chromosome 9 [r(9)(p24q34)]: a report of two cases. Am. J. Med. Genet. A 138A: 229-235. PMid:16158426   Riley SB, Buckton KE, Ratcliffe SG and Syme J (1981). Inheritance of a ring 14 chromosome. J. Med. Genet. 18: 209-213. PMid:7241544 PMCid:1048707   Rossi E, Riegel M, Messa J, Gimelli S, et al. (2008a). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J. Med. Genet. 45: 147-154. PMid:18006671   Rossi E, Messa J and Zuffardi O (2008b). Ring syndrome: still true? J. Med. Genet. 45: 766-768. PMid:18978335   Schinzel A (2001). Catalogue of Unbalanced Chromosome Aberrations in Man. 2nd edn. Walter de Gruyter, Berlin.   Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, et al. (1999). Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. Am. J. Med. Genet. 87: 384-390.<384::AID-AJMG3>3.0.CO;2-R   Sparkes RS, Carrel RE and Wright SW (1967). Absent thumbs with a ring D2 chromosome: a new deletion syndrome. Am. J. Hum. Genet. 19: 644-659. PMid:6050738 PMCid:1706232   Speevak MD, Smart C, Unwin L, Bell M, et al. (2003). Molecular characterization of an inherited ring (19) demonstrating ring opening. Am. J. Med. Genet. A 121A: 141-145. PMid:12910493   Tsukino R, Tsuda N, Dezawa T, Ishii T, et al. (1980). Ring chromosome 10:46,XX,r(10)(p15 leads to q26). J. Med. Genet. 17: 148-150. PMid:7381872 PMCid:1048524   Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, et al. (2004). Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am. J. Med. Genet. A 130A: 340-344. PMid:15384084   Valente M, Muller H and Sparkes RS (1977). Ring 11 chromosome (46,xx,r11(p15q25)). Hum. Genet. 36: 345-350. PMid:856722   Vermeesch JR, Baten E, Fryns JP and Devriendt K (2002). Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin. Genet. 62: 415-417. PMid:12431259   Zollino M, Seminara L, Orteschi D, Gobbi G, et al. (2009). The ring 14 syndrome: clinical and molecular definition. Am. J. Med. Genet. A 149A: 1116-1124. PMid:19441122   Zuffardi O, Danesino C, Poloni L, Pavesi F, et al. (1980). Ring chromosome and latent centromeres. Cytogenet. Cell Genet. 28: 151-157. PMid:7438790