241 related articles for article (PubMed ID: 14991915)
21. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
Schneider E; Märker T; Daser A; Frey-Mahn G; Beyer V; Farcas R; Schneider-Rätzke B; Kohlschmidt N; Grossmann B; Bauss K; Napiontek U; Keilmann A; Bartsch O; Zechner U; Wolfrum U; Haaf T
Hum Mol Genet; 2009 Feb; 18(4):655-66. PubMed ID: 19028668
[TBL] [Abstract][Full Text] [Related]
22. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Vincent JB; Choufani S; Horike S; Stachowiak B; Li M; Dill FJ; Marshall C; Hrynchak M; Pewsey E; Ukadike KC; Friedman JM; Srivastava AK; Scherer SW
Psychiatr Genet; 2008 Jun; 18(3):101-9. PubMed ID: 18496206
[TBL] [Abstract][Full Text] [Related]
23. [Analysis of synaptonemal complex from a carrier with 46,XY,t(11;18) balanced translocation].
Liu JY; Wang XR; Zeng XL; Zhang CS; Song YC
Yi Chuan Xue Bao; 2004 Feb; 31(2):125-31. PubMed ID: 15473301
[TBL] [Abstract][Full Text] [Related]
24. Genomic characterization of the chromosomal breakpoints of t(4;14) of multiple myeloma suggests more than one possible aetiological mechanism.
Fenton JA; Pratt G; Rawstron AC; Sibley K; Rothwell D; Yates Z; Dring A; Richards SJ; Ashcroft AJ; Davies FE; Owen RG; Child JA; Morgan GJ
Oncogene; 2003 Feb; 22(7):1103-13. PubMed ID: 12592397
[TBL] [Abstract][Full Text] [Related]
25. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.
Boyadjiev SA; South ST; Radford CL; Patel A; Zhang G; Hur DJ; Thomas GH; Gearhart JP; Stetten G
Genomics; 2005 May; 85(5):622-9. PubMed ID: 15820314
[TBL] [Abstract][Full Text] [Related]
26. The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
Panza E; Gimelli G; Passalacqua M; Cohen A; Gimelli S; Giglio S; Ghezzi C; Sparatore B; Heye B; Zuffardi O; Rugarli E; Meitinger T; Romeo G; Ravazzolo R; Seri M
Int J Mol Med; 2007 Mar; 19(3):429-35. PubMed ID: 17273791
[TBL] [Abstract][Full Text] [Related]
27. Translocation t(11;14) in multiple myeloma: Analysis of translocation breakpoints on der(11) and der(14) chromosomes suggests complex molecular mechanisms of recombination.
Fenton JA; Pratt G; Rothwell DG; Rawstron AC; Morgan GJ
Genes Chromosomes Cancer; 2004 Feb; 39(2):151-5. PubMed ID: 14695995
[TBL] [Abstract][Full Text] [Related]
28. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
Bienvenu T; Der-Sarkissian H; Billuart P; Tissot M; Des Portes V; Brüls T; Chabrolle JP; Chauveau P; Cherry M; Kahn A; Cohen D; Beldjord C; Chelly J; Cherif D
Eur J Hum Genet; 1997; 5(2):105-9. PubMed ID: 9195162
[TBL] [Abstract][Full Text] [Related]
29. Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.
Seranski P; Heiss NS; Dhorne-Pollet S; Radelof U; Korn B; Hennig S; Backes E; Schmidt S; Wiemann S; Schwarz CE; Lehrach H; Poustka A
Genomics; 1999 Feb; 56(1):1-11. PubMed ID: 10036180
[TBL] [Abstract][Full Text] [Related]
30. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
McDonell N; Ramser J; Francis F; Vinet MC; Rider S; Sudbrak R; Riesselman L; Yaspo ML; Reinhardt R; Monaco AP; Ross F; Kahn A; Kearney L; Buckle V; Chelly J
Genomics; 2000 Mar; 64(3):221-9. PubMed ID: 10756090
[TBL] [Abstract][Full Text] [Related]
31. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
Abeysinghe SS; Chuzhanova N; Krawczak M; Ball EV; Cooper DN
Hum Mutat; 2003 Sep; 22(3):229-44. PubMed ID: 12938088
[TBL] [Abstract][Full Text] [Related]
32. A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Moncla A; Missirian C; Cacciagli P; Balzamo E; Legeai-Mallet L; Jouve JL; Chabrol B; Le Merrer M; Plessis G; Villard L; Philip N
Hum Mutat; 2007 Dec; 28(12):1183-8. PubMed ID: 17676597
[TBL] [Abstract][Full Text] [Related]
33. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
34. Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
Gajecka M; Glotzbach CD; Jarmuz M; Ballif BC; Shaffer LG
Eur J Hum Genet; 2006 Dec; 14(12):1255-62. PubMed ID: 16941016
[TBL] [Abstract][Full Text] [Related]
35. AT-rich palindromes mediate the constitutional t(11;22) translocation.
Edelmann L; Spiteri E; Koren K; Pulijaal V; Bialer MG; Shanske A; Goldberg R; Morrow BE
Am J Hum Genet; 2001 Jan; 68(1):1-13. PubMed ID: 11095996
[TBL] [Abstract][Full Text] [Related]
36. Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
Floris C; Rassu S; Boccone L; Gasperini D; Cao A; Crisponi L
Eur J Hum Genet; 2008 Jun; 16(6):696-704. PubMed ID: 18270536
[TBL] [Abstract][Full Text] [Related]
37. A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
Gotter AL; Shaikh TH; Budarf ML; Rhodes CH; Emanuel BS
Hum Mol Genet; 2004 Jan; 13(1):103-15. PubMed ID: 14613967
[TBL] [Abstract][Full Text] [Related]
38. Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies.
Celep F; Acar H; Aynaci O; Aynaci FM; Karagüzel A
Genet Couns; 2001; 12(4):319-26. PubMed ID: 11837600
[TBL] [Abstract][Full Text] [Related]
39. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.
Chuzhanova N; Abeysinghe SS; Krawczak M; Cooper DN
Hum Mutat; 2003 Sep; 22(3):245-51. PubMed ID: 12938089
[TBL] [Abstract][Full Text] [Related]
40. BglII-based panhandle and reverse panhandle PCR approaches increase capability for cloning der(II) and der(other) genomic breakpoint junctions of MLL translocations.
Robinson BW; Slater DJ; Felix CA
Genes Chromosomes Cancer; 2006 Aug; 45(8):740-53. PubMed ID: 16703585
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
