222 related articles for article (PubMed ID: 12461687)
21. Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.
Wakui K; Toyoda A; Kubota T; Hidaka E; Ishikawa M; Katsuyama T; Sakaki Y; Hattori M; Fukushima Y
J Hum Genet; 2002; 47(10):511-6. PubMed ID: 12376739
[TBL] [Abstract][Full Text] [Related]
22. Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
Chitayat D; Babul R; Silver MM; Jay V; Teshima IE; Babyn P; Becker LE
Am J Med Genet; 1996 Jan; 61(1):45-8. PubMed ID: 8741917
[TBL] [Abstract][Full Text] [Related]
23. Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18.
Tetens J; Ganter M; Müller G; Drögemüller C
Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3506-15. PubMed ID: 17652717
[TBL] [Abstract][Full Text] [Related]
24. Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
Yu S; Barbouth D; Benke PJ; Warburton PE; Fan YS
Cytogenet Genome Res; 2007; 116(1-2):141-5. PubMed ID: 17268194
[TBL] [Abstract][Full Text] [Related]
25. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
[TBL] [Abstract][Full Text] [Related]
26. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
Zhang L; Parkhurst JB; Kern WF; Scott KV; Niccum D; Mulvihill JJ; Li S
Chin Med J (Engl); 2003 Sep; 116(9):1298-303. PubMed ID: 14527352
[TBL] [Abstract][Full Text] [Related]
27. Heterogeneity of PLAG1 gene rearrangements in pleomorphic adenoma.
Kandasamy J; Smith A; Diaz S; Rose B; O'Brien C
Cancer Genet Cytogenet; 2007 Aug; 177(1):1-5. PubMed ID: 17693184
[TBL] [Abstract][Full Text] [Related]
28. exma: an X-linked insertional mutation that disrupts forebrain and eye development.
Cunningham D; Xiao Q; Chatterjee A; Sulik K; Juriloff D; Elder F; Harrison W; Schuster G; Overbeek PA; Herman GE
Mamm Genome; 2002 Apr; 13(4):179-85. PubMed ID: 11956759
[TBL] [Abstract][Full Text] [Related]
29. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
Anderlid BM; Schoumans J; Hallqvist A; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Eur J Hum Genet; 2003 Jan; 11(1):89-92. PubMed ID: 12529712
[TBL] [Abstract][Full Text] [Related]
30. Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8.
van Gils W; Kilic E; Brüggenwirth HT; Vaarwater J; Verbiest MM; Beverloo B; van Til-Berg ME; Paridaens D; Luyten GP; de Klein A
Melanoma Res; 2008 Feb; 18(1):10-5. PubMed ID: 18227702
[TBL] [Abstract][Full Text] [Related]
31. Characterization of 3p, 5p, and 3q in two nasopharyngeal carcinoma cell lines, using region-specific multiplex fluorescence in situ hybridization probes.
Tjia WM; Sham JS; Hu L; Tai AL; Guan XY
Cancer Genet Cytogenet; 2005 Apr; 158(1):61-6. PubMed ID: 15771906
[TBL] [Abstract][Full Text] [Related]
32. Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
Piovani G; Borsani G; Bertini V; Kalscheuer VM; Viertel P; Bellotti D; Valseriati D; Barlati S
Eur J Med Genet; 2006; 49(3):215-23. PubMed ID: 16762823
[TBL] [Abstract][Full Text] [Related]
33. Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions.
Douet-Guilbert N; Basinko A; Morel F; Le Bris MJ; Ugo V; Morice P; Berthou C; De Braekeleer M
Ann Hematol; 2008 Jul; 87(7):537-44. PubMed ID: 18350294
[TBL] [Abstract][Full Text] [Related]
34. Duplication of part of chromosome 1q: clinical report and review of literature.
Michels VV; Berseth CL; O'Brien JF; Dewald G
Am J Med Genet; 1984 May; 18(1):125-34. PubMed ID: 6430083
[TBL] [Abstract][Full Text] [Related]
35. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Delicado A; Lapunzina P; Palomares M; Molina MA; Galán E; López Pajares I
Eur J Med Genet; 2005; 48(2):159-66. PubMed ID: 16053907
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
38. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124
[TBL] [Abstract][Full Text] [Related]
39. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
[TBL] [Abstract][Full Text] [Related]
40. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Mendoza-Londono R; Kashork CD; Shaffer LG; Krance R; Plon SE
Genes Chromosomes Cancer; 2005 Jan; 42(1):82-6. PubMed ID: 15390181
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
