88 related articles for article (PubMed ID: 1353666)
1. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.
Phelan MC; Thomas GR; Saul RA; Rogers RC; Taylor HA; Wenger DA; McDermid HE
Am J Med Genet; 1992 Jul; 43(5):872-6. PubMed ID: 1353666
[TBL] [Abstract][Full Text] [Related]
2. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
Bisgaard AM; Kirchhoff M; Nielsen JE; Kibaek M; Lund A; Schwartz M; Christensen E
Clin Genet; 2009 Feb; 75(2):175-9. PubMed ID: 19054018
[TBL] [Abstract][Full Text] [Related]
3. Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion.
Chen CP; Lin SP; Chern SR; Shih SL; Lee CC; Wang W; Liao YW
Prenat Diagn; 2003 Jun; 23(6):504-8. PubMed ID: 12813767
[TBL] [Abstract][Full Text] [Related]
4. FISH-mapping of a 100-kb terminal 22q13 deletion.
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
[TBL] [Abstract][Full Text] [Related]
5. [Terminal 22q deletion: report of a case and review of the literature].
Arroyo Carrera I; Barrio Sacristán AR; Romero Sala FJ; López Lafuente A; Villa Milla A
An Esp Pediatr; 1998 Apr; 48(4):412-4. PubMed ID: 9629802
[No Abstract] [Full Text] [Related]
6. Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.
Nixon J; Oldridge M; Wilkie AO; Smith K
Am J Med Genet; 1997 Jun; 70(3):324-7. PubMed ID: 9188674
[TBL] [Abstract][Full Text] [Related]
7. Deleted ring chromosome 22 in a mentally retarded boy.
Gustavson KH; Arancibia W; Eriksson U; Svennerholm L
Clin Genet; 1986 Apr; 29(4):337-41. PubMed ID: 2872982
[TBL] [Abstract][Full Text] [Related]
8. A specific syndrome due to deletion of the distal long arm of chromosome 1.
Meinecke P; Vögtel D
Am J Med Genet; 1987 Oct; 28(2):371-6. PubMed ID: 3322005
[TBL] [Abstract][Full Text] [Related]
9. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
[TBL] [Abstract][Full Text] [Related]
10. A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies.
Schinzel A; Gundelfinger R; Dutly F; Baumer A; Binkert F
Am J Med Genet; 1998 May; 77(4):302-5. PubMed ID: 9600740
[TBL] [Abstract][Full Text] [Related]
11. Partial trisomy 22q with elevated arylsulfatase-A activity.
Fryns JP; Jaeken J; van den Berghe H
Ann Genet; 1979; 22(3):168-70. PubMed ID: 43111
[TBL] [Abstract][Full Text] [Related]
12. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R
Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257
[TBL] [Abstract][Full Text] [Related]
13. Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.
Smith A; St Heaps L; Robson L
Am J Med Genet; 2002 Dec; 113(4):346-50. PubMed ID: 12457406
[TBL] [Abstract][Full Text] [Related]
14. Terminal deletion of chromosome 10q26 due to a paternal translocation [(7;10)(q36;q26)].
Borovik CL; Brunoni D
Am J Med Genet; 1991 Dec; 41(4):534-6. PubMed ID: 1776651
[No Abstract] [Full Text] [Related]
15. Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes.
Schwartz S; Max SR; Panny SR; Cohen MM
Am J Med Genet; 1985 Feb; 20(2):255-63. PubMed ID: 2858158
[TBL] [Abstract][Full Text] [Related]
16. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
Narahara K; Takahashi Y; Murakami M; Tsuji K; Yokoyama Y; Murakami R; Ninomiya S; Seino Y
J Med Genet; 1992 Jun; 29(6):432-3. PubMed ID: 1352356
[TBL] [Abstract][Full Text] [Related]
17. Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter.
Talvik I; Ounap K; Bartsch O; Ilus T; Uibo O; Talvik T
Am J Med Genet; 2000 Aug; 93(5):399-402. PubMed ID: 10951464
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
Gort L; Coll MJ; Chabás A
Hum Mutat; 1999; 14(3):240-8. PubMed ID: 10477432
[TBL] [Abstract][Full Text] [Related]
20. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.
Kulharya AS; Michaelis RC; Norris KS; Taylor HA; Garcia-Heras J
Am J Med Genet; 1998 Jun; 77(5):391-4. PubMed ID: 9632168
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
