124 related articles for article (PubMed ID: 8256818)
1. Mosaic r(13) in an infant with aprosencephaly.
Goldsmith CL; Tawagi GF; Carpenter BF; Speevak MD; Hunter AG
Am J Med Genet; 1993 Sep; 47(4):531-3. PubMed ID: 8256818
[TBL] [Abstract][Full Text] [Related]
2. Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
Fryns JP; Kleczkowska A; Smeets E; Van Den Berghe H
Ann Genet; 1992; 35(2):121-3. PubMed ID: 1524410
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux.
Leung AK; Rudd NL
Am J Med Genet; 1988 Jan; 29(1):43-8. PubMed ID: 3344775
[TBL] [Abstract][Full Text] [Related]
5. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.
Helmuth RA; Weaver DD; Wills ER
Am J Med Genet; 1989 Feb; 32(2):178-81. PubMed ID: 2494886
[TBL] [Abstract][Full Text] [Related]
6. Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
Fogu G; Maserati E; Cambosu F; Moro MA; Poddie F; Soro G; Bandiera P; Serra G; Tusacciu G; Sanna G; Mazzarello V; Montella A
Eur J Med Genet; 2008; 51(4):303-14. PubMed ID: 18495567
[TBL] [Abstract][Full Text] [Related]
7. The XK-aprosencephaly syndrome.
Lurie IW; Nedzed MK; Lazjuk GI; Kirillova IA; Cherstvoy ED; Ostrovskaja TI; Shved IA
Am J Med Genet; 1980; 7(2):231-4. PubMed ID: 7193413
[No Abstract] [Full Text] [Related]
8. Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.
Frizzley JK; Stephan MJ; Lamb AN; Jonas PP; Hinson RM; Moffitt DR; Shkolny DL; McDermid HE
J Med Genet; 1999 Mar; 36(3):237-41. PubMed ID: 10204853
[TBL] [Abstract][Full Text] [Related]
9. Two forms of ring 13 in a child with rhabdomyosarcoma.
Voullaire LE; Petrovic V; Sheffield LJ; Campbell P
Am J Med Genet; 1991 Jun; 39(3):285-7. PubMed ID: 1867278
[TBL] [Abstract][Full Text] [Related]
10. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
Gentile M; Buonadonna AL; Cariola F; Fiorente P; Valenzano MC; Guanti G
J Med Genet; 1999 Jan; 36(1):77-82. PubMed ID: 9950374
[TBL] [Abstract][Full Text] [Related]
11. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
Wenger SL; Boone LY; Cummins JH; Del Vecchio MA; Bay CA; Hummel M; Mowery-Rushton PA
Am J Med Genet; 2000 Apr; 91(5):351-4. PubMed ID: 10766997
[TBL] [Abstract][Full Text] [Related]
12. XK aprosencephaly and anencephaly in sibs.
Townes PL; Reuter K; Rosquete EE; Magee BD
Am J Med Genet; 1988 Mar; 29(3):523-8. PubMed ID: 3287923
[TBL] [Abstract][Full Text] [Related]
13. Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW; Nedzved MK; Lazjuk GI; Kirillova IA; Cherstvoy ED
Am J Med Genet; 1979; 3(3):301-9. PubMed ID: 114053
[TBL] [Abstract][Full Text] [Related]
14. [Ring chromosome 13 (type I) 45,XY,-13/46, XY,r(13)(p11:q34)].
Díaz-Cardama Sousa I; Mora Gandarillas I; Vázquez Rodríguez M; Viso Lorenzo A; Alonso Villa MJ; Fernández Toral J
An Esp Pediatr; 1990 Jun; 32(6):556-8. PubMed ID: 2221637
[No Abstract] [Full Text] [Related]
15. Ring chromosome 4 mosaicism and Potter sequence.
Fryns JP; Kleczkowska A; Jaeken J; Van den Berghe H
Ann Genet; 1988; 31(2):120-2. PubMed ID: 3261147
[TBL] [Abstract][Full Text] [Related]
16. Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
Anderson CE; Wallerstein R; Zamerowski ST; Witzleben C; Hoyer JR; Gibas L; Jackson LG
Am J Med Genet; 1997 Oct; 72(3):281-5. PubMed ID: 9332654
[TBL] [Abstract][Full Text] [Related]
17. Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.
Lorda-Sánchez I; Villa A; Urioste M; Bernal E; Jaso E; García A; Martínez-Frías ML
Am J Med Genet; 1997 Feb; 68(4):481-4. PubMed ID: 9021026
[TBL] [Abstract][Full Text] [Related]
18. Ring chromosome 21. Observation in a female infant.
Carlo Stella N; Barberi I; Corrado F; Triolo O
Ann Genet; 1984; 27(4):249-51. PubMed ID: 6335374
[TBL] [Abstract][Full Text] [Related]
19. Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism.
Meire FM; Fryns JP
Ann Genet; 1994; 37(3):150-2. PubMed ID: 7847798
[TBL] [Abstract][Full Text] [Related]
20. Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.
Venugopalan P; Kenue RK
Saudi Med J; 2001 Sep; 22(9):800-3. PubMed ID: 11590457
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
