403 related articles for article (PubMed ID: 18672103)
21. 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]
22. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ; Hilhorst-Hofstee Y; Knijnenburg J; Hansson KB; Engelberts AC; Laan LA; Bakker E; Rosenberg C
Eur J Med Genet; 2007; 50(2):149-54. PubMed ID: 17223398
[TBL] [Abstract][Full Text] [Related]
23. Detailed molecular analysis of 1p36 in neuroblastoma.
White PS; Thompson PM; Seifried BA; Sulman EP; Jensen SJ; Guo C; Maris JM; Hogarty MD; Allen C; Biegel JA; Matise TC; Gregory SG; Reynolds CP; Brodeur GM
Med Pediatr Oncol; 2001 Jan; 36(1):37-41. PubMed ID: 11464901
[TBL] [Abstract][Full Text] [Related]
24. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
25. Translocation junctions cluster at the distal short arm of chromosome 1 (1p36.1-2) in human neuroblastoma cells.
Barker PE; Savelyeva L; Schwab M
Oncogene; 1993 Dec; 8(12):3353-8. PubMed ID: 8247537
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype.
Chen M; Hwu WL; Kuo SJ; Chen CP; Yin PL; Chang SP; Lee DJ; Chen TH; Wang BT; Lin CC
Ultrasound Obstet Gynecol; 2006 Dec; 28(7):939-43. PubMed ID: 17121426
[TBL] [Abstract][Full Text] [Related]
28. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
Gijsbers AC; Bijlsma EK; Weiss MM; Bakker E; Breuning MH; Hoffer MJ; Ruivenkamp CA
Eur J Med Genet; 2008; 51(5):479-87. PubMed ID: 18547887
[TBL] [Abstract][Full Text] [Related]
29. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Saugier-Veber P; Goldenberg A; Drouin-Garraud V; de La Rochebrochard C; Layet V; Drouot N; Le Meur N; Gilbert-Du-Ssardier B; Joly-Hélas G; Moirot H; Rossi A; Tosi M; Frébourg T
Eur J Hum Genet; 2006 Sep; 14(9):1009-17. PubMed ID: 16773131
[TBL] [Abstract][Full Text] [Related]
30. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
[TBL] [Abstract][Full Text] [Related]
31. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
Erjavec-Skerget A; Stangler-Herodez S; Zagorac A; Zagradisnik B; Kokalj-Vokac N
Croat Med J; 2006 Dec; 47(6):841-50. PubMed ID: 17167856
[TBL] [Abstract][Full Text] [Related]
32. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
Lorda-Sanchez I; Lopez-Pajares I; Roche MC; Sanz R; Rodriguez de Alba M; Gonzalez-Gonzalez MC; Ibañez A; Ramos C; Ayuso C
Am J Med Genet; 2000 Dec; 95(4):336-8. PubMed ID: 11186887
[TBL] [Abstract][Full Text] [Related]
33. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C; Bendavid C; Dubourg C; de la Rochebrochard C; Lucas J; Henry C; Jaillard S; Loget P; Loeuillet L; Lacombe D; Rival JM; David V; Odent S; Pasquier L
Eur J Med Genet; 2009; 52(1):41-6. PubMed ID: 19022413
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. 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]
37. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.
Ness GO; Lybaek H; Houge G
Am J Med Genet; 2002 Nov; 113(2):125-36. PubMed ID: 12407702
[TBL] [Abstract][Full Text] [Related]
38. [Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].
Li MR; Wang XZ; Yang YL; Zhang YH; Xiong H; Bao XH; Zhong N; Wu XR; Pan H
Zhonghua Yi Xue Za Zhi; 2009 Nov; 89(40):2839-42. PubMed ID: 20137665
[TBL] [Abstract][Full Text] [Related]
39. Fluorescence in situ hybridization analyses of chromosome band 1p36 in neuroblastoma detect two classes of alterations.
Spitz R; Hero B; Westermann F; Ernestus K; Schwab M; Berthold F
Genes Chromosomes Cancer; 2002 Jul; 34(3):299-305. PubMed ID: 12007190
[TBL] [Abstract][Full Text] [Related]
40. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
