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2. 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]
3. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations. Liang D; Wang Y; Ji X; Hu H; Zhang J; Meng L; Lin Y; Ma D; Jiang T; Jiang H; Asan ; Song L; Guo J; Hu P; Xu Z Clin Genet; 2017 Apr; 91(4):605-610. PubMed ID: 27491356 [TBL] [Abstract][Full Text] [Related]
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5. Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing. Chau MHK; Li Y; Dai P; Shi M; Zhu X; Wah Chung JP; Kwok YK; Choy KW; Kong X; Dong Z Asian J Androl; 2022; 24(3):248-254. PubMed ID: 35017386 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Nilsson D; Pettersson M; Gustavsson P; Förster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid BM; Nordgren A; Mäkitie O; Wirta V; Käller M; Vezzi F; Lupski JR; Nordenskjöld M; Lundberg ES; Carvalho CMB; Lindstrand A Hum Mutat; 2017 Feb; 38(2):180-192. PubMed ID: 27862604 [TBL] [Abstract][Full Text] [Related]
8. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. Aristidou C; Koufaris C; Theodosiou A; Bak M; Mehrjouy MM; Behjati F; Tanteles G; Christophidou-Anastasiadou V; Tommerup N; Sismani C PLoS One; 2017; 12(1):e0169935. PubMed ID: 28072833 [TBL] [Abstract][Full Text] [Related]
9. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature. Zhang H; Wang R; Li L; Jiang Y; Zhang H; Liu R Medicine (Baltimore); 2018 Apr; 97(15):e0452. PubMed ID: 29642220 [TBL] [Abstract][Full Text] [Related]
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12. Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage. David D; Fino J; Oliveira R; Dória S; Morton CC Gene; 2023 Dec; 887():147737. PubMed ID: 37625567 [TBL] [Abstract][Full Text] [Related]
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14. An excess of chromosome 1 breakpoints in male infertility. Bache I; Assche EV; Cingoz S; Bugge M; Tümer Z; Hjorth M; Lundsteen C; Lespinasse J; Winther K; Niebuhr A; Kalscheuer V; Liebaers I; Bonduelle M; Tournaye H; Ayuso C; Barbi G; Blennow E; Bourrouillou G; Brondum-Nielsen K; Bruun-Petersen G; Croquette MF; Dahoun S; Dallapiccola B; Davison V; Delobel B; Duba HC; Duprez L; Ferguson-Smith M; Fitzpatrick DR; Grace E; Hansmann I; Hultén M; Jensen PK; Jonveaux P; Kristoffersson U; Lopez-Pajares I; McGowan-Jordan J; Murken J; Orera M; Parkin T; Passarge E; Ramos C; Rasmussen K; Schempp W; Schubert R; Schwinger E; Shabtai F; Smith K; Stallings R; Stefanova M; Tranebjerg L; Turleau C; van der Hagen CB; Vekemans M; Vokac NK; Wagner K; Wahlstroem J; Zelante L; Tommerup N Eur J Hum Genet; 2004 Dec; 12(12):993-1000. PubMed ID: 15367911 [TBL] [Abstract][Full Text] [Related]
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19. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. Utami KH; Hillmer AM; Aksoy I; Chew EG; Teo AS; Zhang Z; Lee CW; Chen PJ; Seng CC; Ariyaratne PN; Rouam SL; Soo LS; Yousoof S; Prokudin I; Peters G; Collins F; Wilson M; Kakakios A; Haddad G; Menuet A; Perche O; Tay SK; Sung KW; Ruan X; Ruan Y; Liu ET; Briault S; Jamieson RV; Davila S; Cacheux V PLoS One; 2014; 9(6):e90852. PubMed ID: 24603971 [TBL] [Abstract][Full Text] [Related]
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