270 related articles for article (PubMed ID: 8116679)
1. Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome).
Fan YS; Farrell SA
Am J Med Genet; 1994 Jan; 49(2):253-4. PubMed ID: 8116679
[No Abstract] [Full Text] [Related]
2. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
Juyal RC; Kuwano A; Kondo I; Zara F; Baldini A; Patel PI
Am J Med Genet; 1996 Dec; 66(2):193-6. PubMed ID: 8958329
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).
Kondo I; Matsuura S; Kuwajima K; Tokashiki M; Izumikawa Y; Naritomi K; Niikawa N; Kajii T
Am J Med Genet; 1991 Nov; 41(2):225-9. PubMed ID: 1785639
[TBL] [Abstract][Full Text] [Related]
4. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
Juyal RC; Finucane B; Shaffer LG; Lupski JR; Greenberg F; Scott CI; Baldini A; Patel PI
Am J Med Genet; 1995 Nov; 59(3):406-7. PubMed ID: 8599375
[No Abstract] [Full Text] [Related]
5. Smith-Magenis syndrome.
Crumley FE
J Am Acad Child Adolesc Psychiatry; 1998 Nov; 37(11):1131-2. PubMed ID: 9808923
[No Abstract] [Full Text] [Related]
6. Rieger syndrome and interstitial 4q26 deletion.
Fryns JP; Van Den Berghe H
Genet Couns; 1992; 3(3):153-4. PubMed ID: 1388934
[No Abstract] [Full Text] [Related]
7. [A new clinico-cytogenetic syndrome--a proximal deletion of the short arm of chromosome 17].
Zaletaev DV; Marincheva GS
Pediatriia; 1988; (11):82-4. PubMed ID: 3226810
[No Abstract] [Full Text] [Related]
8. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
Juyal RC; Greenberg F; Mengden GA; Lupski JR; Trask BJ; van den Engh G; Lindsay EA; Christy H; Chen KS; Baldini A
Am J Med Genet; 1995 Sep; 58(3):286-91. PubMed ID: 8533833
[TBL] [Abstract][Full Text] [Related]
9. Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.
de Almeida JC; Reis DF; Martins RR
Ann Genet; 1989; 32(3):184-6. PubMed ID: 2817780
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).
Thomas DG; Jacques SM; Flore LA; Feldman B; Evans MI; Qureshi F
Fetal Diagn Ther; 2000; 15(6):335-7. PubMed ID: 11111213
[TBL] [Abstract][Full Text] [Related]
11. Trisomy 18 (Edwards syndrome) in Delaware.
Morallo LM; Rosenblum H; Esterly KL; Johnson WD; Storlazzi JJ; Narvaez AC; Borgaonkar DS
Del Med J; 1983 Jan; 55(1):27-30. PubMed ID: 6840358
[No Abstract] [Full Text] [Related]
12. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
Zori RT; Lupski JR; Heju Z; Greenberg F; Killian JM; Gray BA; Driscoll DJ; Patel PI; Zackowski JL
Am J Med Genet; 1993 Sep; 47(4):504-11. PubMed ID: 8256814
[TBL] [Abstract][Full Text] [Related]
13. Terminal deletion of the short arm of chromosome 3.
Lizcano-Gil LA; Figuera LE
Genet Couns; 1994; 5(1):35-8. PubMed ID: 8031533
[TBL] [Abstract][Full Text] [Related]
14. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
Probst FJ; Chen KS; Zhao Q; Wang A; Friedman TB; Lupski JR; Camper SA
Genomics; 1999 Feb; 55(3):348-52. PubMed ID: 10049592
[TBL] [Abstract][Full Text] [Related]
15. Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).
Colley AF; Leversha MA; Voullaire LE; Rogers JG
J Paediatr Child Health; 1990 Feb; 26(1):17-21. PubMed ID: 2331413
[TBL] [Abstract][Full Text] [Related]
16. [Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects].
Bonaventura F; Adamoli P; Bernardini E; Branchi M; Siani A; Bonora G
Pediatr Med Chir; 1994; 16(4):393-8. PubMed ID: 7816704
[TBL] [Abstract][Full Text] [Related]
17. Langer-Giedion syndrome with interstitial 8q-deletion.
Zabel BU; Baumann WA
Am J Med Genet; 1982 Mar; 11(3):353-8. PubMed ID: 7081298
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of mosaic tetrasomy 5p.
Park JP; Barefoot KH; Ornvold K; Berg SZ; Dossu JR; Mohandas TK
Prenat Diagn; 2001 May; 21(5):351-3. PubMed ID: 11360274
[TBL] [Abstract][Full Text] [Related]
19. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
[TBL] [Abstract][Full Text] [Related]
20. Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.
Fischer H; Oswald HP; Duba HC; Doczy L; Simma B; Utermann G; Haas OA
Klin Padiatr; 1993; 205(3):162-6. PubMed ID: 8350589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
