279 related articles for article (PubMed ID: 28099951)
21. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome.
Araújo A; Ramos ES
Braz J Med Biol Res; 2008 May; 41(5):368-72. PubMed ID: 18545811
[TBL] [Abstract][Full Text] [Related]
22. Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females.
Nielsen MM; Trolle C; Vang S; Hornshøj H; Skakkebaek A; Hedegaard J; Nordentoft I; Pedersen JS; Gravholt CH
Am J Med Genet C Semin Med Genet; 2020 Jun; 184(2):279-293. PubMed ID: 32489015
[TBL] [Abstract][Full Text] [Related]
23. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Collins RL; Brand H; Redin CE; Hanscom C; Antolik C; Stone MR; Glessner JT; Mason T; Pregno G; Dorrani N; Mandrile G; Giachino D; Perrin D; Walsh C; Cipicchio M; Costello M; Stortchevoi A; An JY; Currall BB; Seabra CM; Ragavendran A; Margolin L; Martinez-Agosto JA; Lucente D; Levy B; Sanders SJ; Wapner RJ; Quintero-Rivera F; Kloosterman W; Talkowski ME
Genome Biol; 2017 Mar; 18(1):36. PubMed ID: 28260531
[TBL] [Abstract][Full Text] [Related]
24. A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Córdova-Fletes C; Rivera H; Aguayo-Orozco TA; Martínez-Jacobo LA; Garza-González E; Robles-Espinoza CD; Basurto-Lozada P; Avalos-Gómez HG; Esparza-García E; Domínguez-Quezada MG
Eur J Med Genet; 2022 Oct; 65(10):104579. PubMed ID: 35933106
[TBL] [Abstract][Full Text] [Related]
25. Insight into the Molecular Basis Underlying Chromothripsis.
Ostapińska K; Styka B; Lejman M
Int J Mol Sci; 2022 Mar; 23(6):. PubMed ID: 35328739
[TBL] [Abstract][Full Text] [Related]
26. Combined spectral karyotyping, multicolor banding, and microarray comparative genomic hybridization analysis provides a detailed characterization of complex structural chromosomal rearrangements associated with gene amplification in the osteosarcoma cell line MG-63.
Lim G; Karaskova J; Vukovic B; Bayani J; Beheshti B; Bernardini M; Squire JA; Zielenska M
Cancer Genet Cytogenet; 2004 Sep; 153(2):158-64. PubMed ID: 15350306
[TBL] [Abstract][Full Text] [Related]
27. The Genomic Characteristics and Origin of Chromothripsis.
Marcozzi A; Pellestor F; Kloosterman WP
Methods Mol Biol; 2018; 1769():3-19. PubMed ID: 29564814
[TBL] [Abstract][Full Text] [Related]
28. Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis.
Arya P; Hodge JC; Matlock PA; Vance GH; Breman AM
Cytogenet Genome Res; 2020; 160(11-12):671-679. PubMed ID: 33535208
[TBL] [Abstract][Full Text] [Related]
29. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype.
Uematsu A; Yorifuji T; Muroi J; Kawai M; Mamada M; Kaji M; Yamanaka C; Momoi T; Nakahata T
Am J Med Genet; 2002 Aug; 111(2):134-9. PubMed ID: 12210339
[TBL] [Abstract][Full Text] [Related]
30. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.
Hattori A; Okamura K; Terada Y; Tanaka R; Katoh-Fukui Y; Matsubara Y; Matsubara K; Kagami M; Horikawa R; Fukami M
BMC Med Genomics; 2019 May; 12(1):77. PubMed ID: 31138192
[TBL] [Abstract][Full Text] [Related]
31. Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N; Arrigoni F; Errichiello E; Zucca C; Maghini C; D'Angelo MG; Beri S; Giorda R; Bertuzzo S; Delledonne M; Xumerle L; Rossato M; Zuffardi O; Bonaglia MC
J Med Genet; 2018 Apr; 55(4):269-277. PubMed ID: 29378768
[TBL] [Abstract][Full Text] [Related]
32. [Familial chromosome X structural aberrations - case report].
Stembalska A; Barg E; Jakiel A; Sasiadek MM
Pediatr Endocrinol Diabetes Metab; 2010; 16(4):310-4. PubMed ID: 21447275
[TBL] [Abstract][Full Text] [Related]
33. Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome.
Gersak K; Writzl K; Veble A; Liehr T
Genet Couns; 2010; 21(3):335-42. PubMed ID: 20964126
[TBL] [Abstract][Full Text] [Related]
34. Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system.
Morishita M; Muramatsu T; Suto Y; Hirai M; Konishi T; Hayashi S; Shigemizu D; Tsunoda T; Moriyama K; Inazawa J
Oncotarget; 2016 Mar; 7(9):10182-92. PubMed ID: 26862731
[TBL] [Abstract][Full Text] [Related]
35. Chromothripsis: how does such a catastrophic event impact human reproduction?
Pellestor F
Hum Reprod; 2014 Mar; 29(3):388-93. PubMed ID: 24452388
[TBL] [Abstract][Full Text] [Related]
36. Unusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement.
Lee BY; Kim SY; Park JY; Choi EY; Kim DJ; Kim JW; Ryu HM; Cho YH; Park SY; Seo JT
Cytogenet Genome Res; 2014; 142(2):79-86. PubMed ID: 24434812
[TBL] [Abstract][Full Text] [Related]
37. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
Kim MK; Seok HH; Kim YS; Chin MU; Sung SR; Lee WS; Shim SH; Yoon TK
Gene; 2014 Jan; 534(1):54-9. PubMed ID: 24148559
[TBL] [Abstract][Full Text] [Related]
38. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
Schluth C; Cossée M; Girard-Lemaire F; Carelle N; Dollfus H; Jeandidier E; Flori E
Pathol Biol (Paris); 2007 Feb; 55(1):29-36. PubMed ID: 16690229
[TBL] [Abstract][Full Text] [Related]
39. [Prenatal diagnosis and genetic analysis of two cases of Turner syndrome due to isodicentric Xp11.22].
Wang L; Kang H; Hu Y; Wu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):368-373. PubMed ID: 36854417
[TBL] [Abstract][Full Text] [Related]
40. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.
Tulay P; Ergoren MC; Alkaya A; Yayci E; Sag SO; Temel SG
Glob Med Genet; 2020 Dec; 7(4):128-132. PubMed ID: 33693446
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]