157 related articles for article (PubMed ID: 36588754)
21. Characterization of a balanced reciprocal translocation, rcp(9;11)(q27;q11) in cattle.
De Lorenzi L; De Giovanni A; Molteni L; Denis C; Eggen A; Parma P
Cytogenet Genome Res; 2007; 119(3-4):231-4. PubMed ID: 18253034
[TBL] [Abstract][Full Text] [Related]
22. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C; Diguet F; Chatron N; Rollat-Farnier PA; Bardel C; Afenjar A; Amblard F; Amiel J; Blesson S; Callier P; Capri Y; Collignon P; Cordier MP; Coubes C; Demeer B; Chaussenot A; Demurger F; Devillard F; Doco-Fenzy M; Dupont C; Dupont JM; Dupuis-Girod S; Faivre L; Gilbert-Dussardier B; Guerrot AM; Houlier M; Isidor B; Jaillard S; Joly-Hélas G; Kremer V; Lacombe D; Le Caignec C; Lebbar A; Lebrun M; Lesca G; Lespinasse J; Levy J; Malan V; Mathieu-Dramard M; Masson J; Masurel-Paulet A; Mignot C; Missirian C; Morice-Picard F; Moutton S; Nadeau G; Pebrel-Richard C; Odent S; Paquis-Flucklinger V; Pasquier L; Philip N; Plutino M; Pons L; Portnoï MF; Prieur F; Puechberty J; Putoux A; Rio M; Rooryck-Thambo C; Rossi M; Sarret C; Satre V; Siffroi JP; Till M; Touraine R; Toutain A; Toutain J; Valence S; Verloes A; Whalen S; Edery P; Tabet AC; Sanlaville D
J Med Genet; 2019 Aug; 56(8):526-535. PubMed ID: 30923172
[TBL] [Abstract][Full Text] [Related]
23. Multi-Omic Investigations of a 17-19 Translocation Links
Eisfeldt J; Schuy J; Stattin EL; Kvarnung M; Falk A; Feuk L; Lindstrand A
Int J Mol Sci; 2022 Aug; 23(16):. PubMed ID: 36012658
[TBL] [Abstract][Full Text] [Related]
24. Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia.
Kato R; Matsumoto N; Fujimoto M; Nakano M; Nakamura Y; Niikawa N
Jpn J Hum Genet; 1997 Dec; 42(4):525-32. PubMed ID: 9560952
[TBL] [Abstract][Full Text] [Related]
25. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to
Murcia Pienkowski V; Kucharczyk M; Młynek M; Szczałuba K; Rydzanicz M; Poszewiecka B; Skórka A; Sykulski M; Biernacka A; Koppolu AA; Posmyk R; Walczak A; Kosińska J; Krajewski P; Castaneda J; Obersztyn E; Jurkiewicz E; Śmigiel R; Gambin A; Chrzanowska K; Krajewska-Walasek M; Płoski R
J Med Genet; 2019 Feb; 56(2):104-112. PubMed ID: 30352868
[TBL] [Abstract][Full Text] [Related]
26. Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.
Chen J; Lyu GZ; Jiang F; Zhang VW; Li DZ
Cytogenet Genome Res; 2022; 162(7):386-390. PubMed ID: 36893740
[TBL] [Abstract][Full Text] [Related]
27. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.
Al-Kateb H; Hahn A; Gastier-Foster JM; Jeng L; McCandless SE; Curtis CA
Am J Med Genet A; 2010 Dec; 152A(12):3148-53. PubMed ID: 21108400
[TBL] [Abstract][Full Text] [Related]
28. Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.
Liao HM; Fang JS; Chen YJ; Wu KL; Lee KF; Chen CH
BMC Med Genet; 2011 May; 12():70. PubMed ID: 21595979
[TBL] [Abstract][Full Text] [Related]
29. Fine mapping of the constitutional translocation t(11;22)(q23;q11).
Tapia-Páez I; O'Brien KP; Kost-Alimova M; Sahlén S; Kedra D; Bruder CE; Andersson B; Roe BA; Hu P; Imreh S; Blennow E; Dumanski JP
Hum Genet; 2000 May; 106(5):506-16. PubMed ID: 10914680
[TBL] [Abstract][Full Text] [Related]
30. Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development.
Dutta UR; Pidugu VK; Goud ChV; Hoefers C; Hagemann M; Dalal A
Gene; 2013 May; 519(2):374-80. PubMed ID: 23428792
[TBL] [Abstract][Full Text] [Related]
31. Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Sobreira NL; Gnanakkan V; Walsh M; Marosy B; Wohler E; Thomas G; Hoover-Fong JE; Hamosh A; Wheelan SJ; Valle D
Genome Res; 2011 Oct; 21(10):1720-7. PubMed ID: 21890680
[TBL] [Abstract][Full Text] [Related]
32. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
Ballif BC; Wakui K; Gajecka M; Shaffer LG
Hum Genet; 2004 Jan; 114(2):198-206. PubMed ID: 14579147
[TBL] [Abstract][Full Text] [Related]
33. Targeted next-generation sequencing identifies the disruption of the
Bonaglia MC; Bertuzzo S; Ciaschini AM; Discepoli G; Castiglia L; Romaniello R; Zuffardi O; Fichera M
Mol Cytogenet; 2020; 13():22. PubMed ID: 32536973
[TBL] [Abstract][Full Text] [Related]
34. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
[TBL] [Abstract][Full Text] [Related]
35. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
Bonnet C; Grégoire MJ; Vibert M; Raffo E; Leheup B; Jonveaux P
J Hum Genet; 2008; 53(10):876-885. PubMed ID: 18651096
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
Vervoort VS; Viljoen D; Smart R; Suthers G; DuPont BR; Abbott A; Schwartz CE
J Med Genet; 2002 Dec; 39(12):893-9. PubMed ID: 12471201
[TBL] [Abstract][Full Text] [Related]
38. Mapping translocation breakpoints by next-generation sequencing.
Chen W; Kalscheuer V; Tzschach A; Menzel C; Ullmann R; Schulz MH; Erdogan F; Li N; Kijas Z; Arkesteijn G; Pajares IL; Goetz-Sothmann M; Heinrich U; Rost I; Dufke A; Grasshoff U; Glaeser B; Vingron M; Ropers HH
Genome Res; 2008 Jul; 18(7):1143-9. PubMed ID: 18326688
[TBL] [Abstract][Full Text] [Related]
39. Molecular characterisation of the t(1;15)(p22;q22) translocation in the prostate cancer cell line LNCaP.
Strefford JC; Lane TM; Hill A; LeRoux L; Foot NJ; Shipley J; Oliver RT; Lu YJ; Young BD
Cytogenet Genome Res; 2006; 112(1-2):45-52. PubMed ID: 16276089
[TBL] [Abstract][Full Text] [Related]
40. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.
Luo A; Cheng D; Yuan S; Li H; Du J; Zhang Y; Yang C; Lin G; Zhang W; Tan YQ
Mol Cytogenet; 2018; 11():24. PubMed ID: 29636822
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
