231 related articles for article (PubMed ID: 15689456)
1. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
Redon R; Rio M; Gregory SG; Cooper RA; Fiegler H; Sanlaville D; Banerjee R; Scott C; Carr P; Langford C; Cormier-Daire V; Munnich A; Carter NP; Colleaux L
J Med Genet; 2005 Feb; 42(2):166-71. PubMed ID: 15689456
[No Abstract] [Full Text] [Related]
2. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
3. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
[TBL] [Abstract][Full Text] [Related]
4. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
Ballif BC; Yu W; Shaw CA; Kashork CD; Shaffer LG
Hum Mol Genet; 2003 Sep; 12(17):2153-65. PubMed ID: 12915474
[TBL] [Abstract][Full Text] [Related]
5. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
Kurosawa K; Kawame H; Okamoto N; Ochiai Y; Akatsuka A; Kobayashi M; Shimohira M; Mizuno S; Wada K; Fukushima Y; Kawawaki H; Yamamoto T; Masuno M; Imaizumi K; Kuroki Y
Brain Dev; 2005 Aug; 27(5):378-82. PubMed ID: 16023556
[TBL] [Abstract][Full Text] [Related]
6. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Yu W; Ballif BC; Kashork CD; Heilstedt HA; Howard LA; Cai WW; White LD; Liu W; Beaudet AL; Bejjani BA; Shaw CA; Shaffer LG
Hum Mol Genet; 2003 Sep; 12(17):2145-52. PubMed ID: 12915473
[TBL] [Abstract][Full Text] [Related]
7. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
[TBL] [Abstract][Full Text] [Related]
8. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
[TBL] [Abstract][Full Text] [Related]
9. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
Shimojima K; Páez MT; Kurosawa K; Yamamoto T
Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
[TBL] [Abstract][Full Text] [Related]
10. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
[TBL] [Abstract][Full Text] [Related]
11. Monosomy 1p36.
Slavotinek A; Shaffer LG; Shapira SK
J Med Genet; 1999 Sep; 36(9):657-63. PubMed ID: 10507720
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
[TBL] [Abstract][Full Text] [Related]
14. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
[TBL] [Abstract][Full Text] [Related]
15. Del 1p36 syndrome: a newly emerging clinical entity.
Battaglia A
Brain Dev; 2005 Aug; 27(5):358-61. PubMed ID: 16023552
[TBL] [Abstract][Full Text] [Related]
16. Narrowing the deleted region associated with the 15q21 syndrome.
Pramparo T; Mattina T; Gimelli S; Liehr T; Zuffardi O
Eur J Med Genet; 2005; 48(3):346-52. PubMed ID: 16179230
[TBL] [Abstract][Full Text] [Related]
17. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
[TBL] [Abstract][Full Text] [Related]
18. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
de Pater JM; Poot M; Beemer FA; Bijlsma JB; Hack WW; Van Dam WM; Eleveld MJ; Loneus WH; Engelen JJ
Eur J Med Genet; 2006; 49(1):19-27. PubMed ID: 16473306
[TBL] [Abstract][Full Text] [Related]
19. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
Wakui K; Gregato G; Ballif BC; Glotzbach CD; Bailey KA; Kuo PL; Sue WC; Sheffield LJ; Irons M; Gomez EG; Hecht JT; Potocki L; Shaffer LG
Eur J Hum Genet; 2005 May; 13(5):528-40. PubMed ID: 15852040
[TBL] [Abstract][Full Text] [Related]
20. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
D'Angelo CS; Da Paz JA; Kim CA; Bertola DR; Castro CI; Varela MC; Koiffmann CP
Eur J Med Genet; 2006; 49(6):451-60. PubMed ID: 16564757
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
