194 related articles for article (PubMed ID: 29492593)
1. Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
Sharapova SO; Valochnik AV; Guryanova IE; Sakovich IS; Aleinikova OV
Immunogenetics; 2018 Sep; 70(9):613-617. PubMed ID: 29492593
[TBL] [Abstract][Full Text] [Related]
2. A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.
Yang X; Ye Z; Zhang X; Wang H; Liu C
Leg Med (Tokyo); 2017 Jul; 27():38-42. PubMed ID: 28697408
[TBL] [Abstract][Full Text] [Related]
3. Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S; Takeguchi R; Kuroda M; Tanaka R
Mol Genet Genomic Med; 2020 Mar; 8(3):e1122. PubMed ID: 31943886
[TBL] [Abstract][Full Text] [Related]
4. Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.
Massara LS; Delea M; Espeche L; Bruque CD; Oliveri J; Brun P; Furforo L; Dain L; Rozental S
Cytogenet Genome Res; 2019; 159(3):137-142. PubMed ID: 31786569
[TBL] [Abstract][Full Text] [Related]
5. A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.
Li J; Xie M; Wang F; Ma J; Li J; Chen C; Li Z; Wang J; Zhang Y; Li Y
Mol Genet Genomic Med; 2020 Aug; 8(8):e1279. PubMed ID: 32463164
[TBL] [Abstract][Full Text] [Related]
6. Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
Ratnaparkhe M; Hlevnjak M; Kolb T; Jauch A; Maass KK; Devens F; Rode A; Hovestadt V; Korshunov A; Pastorczak A; Mlynarski W; Sungalee S; Korbel J; Hoell J; Fischer U; Milde T; Kramm C; Nathrath M; Chrzanowska K; Tausch E; Takagi M; Taga T; Constantini S; Loeffen J; Meijerink J; Zielen S; Gohring G; Schlegelberger B; Maass E; Siebert R; Kunz J; Kulozik AE; Worst B; Jones DT; Pfister SM; Zapatka M; Lichter P; Ernst A
Leukemia; 2017 Oct; 31(10):2048-2056. PubMed ID: 28196983
[TBL] [Abstract][Full Text] [Related]
7. Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.
Butnariu L; Rusu C; Caba L; Pânzaru M; Braha E; Grămescu M; Popescu R; Bujoranu C; Gorduza EV
Rev Med Chir Soc Med Nat Iasi; 2013; 117(3):714-21. PubMed ID: 24502039
[TBL] [Abstract][Full Text] [Related]
8. New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
Roohi J; Crowe J; Loredan D; Anyane-Yeboa K; Mansukhani MM; Omesi L; Levine J; Revah Politi A; Zha S
J Hum Genet; 2017 Apr; 62(5):581-584. PubMed ID: 28123174
[TBL] [Abstract][Full Text] [Related]
9. Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
Sze SK; Lederman HM; Crawford TO; Wangler MF; Lewis AM; Kastan MB; Dibra HK; Taylor AMR; Wechsler DS
J Pediatr Hematol Oncol; 2021 Jan; 43(1):e138-e140. PubMed ID: 31743320
[TBL] [Abstract][Full Text] [Related]
10. Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.
Tang R; Lin L; Guo Z; Hou H; Yu Q
Mol Genet Genomic Med; 2019 Jul; 7(7):e00732. PubMed ID: 31070017
[TBL] [Abstract][Full Text] [Related]
11. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.
Bielorai B; Fisher T; Waldman D; Lerenthal Y; Nissenkorn A; Tohami T; Marek D; Amariglio N; Toren A
Pediatr Hematol Oncol; 2013 Sep; 30(6):574-82. PubMed ID: 23509889
[TBL] [Abstract][Full Text] [Related]
12. Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
Navratil M; Đuranović V; Nogalo B; Švigir A; Dumbović Dubravčić I; Turkalj M
Am J Case Rep; 2015 Sep; 16():631-6. PubMed ID: 26380989
[TBL] [Abstract][Full Text] [Related]
13. Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia.
Kjeldsen E
Exp Mol Pathol; 2016 Aug; 101(1):38-43. PubMed ID: 27215399
[TBL] [Abstract][Full Text] [Related]
14. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[TBL] [Abstract][Full Text] [Related]
15. Hyperdiploidy with trisomy 9 and deletion of the CDKN2A locus in T-cell acute lymphoblastic leukemia.
Healey K; Gray SL; Halligan GE; McKenzie AS; de Chadarévian JP; Morrissette JJ
Cancer Genet Cytogenet; 2009 Apr; 190(2):121-4. PubMed ID: 19380031
[TBL] [Abstract][Full Text] [Related]
16. A fertile patient with 45X/47XXX mosaicism.
Sahinturk S; Ozemri Sag S; Ture M; Gorukmez O; Topak A; Yakut T; Gulten T
Genet Couns; 2015; 26(1):29-34. PubMed ID: 26043504
[TBL] [Abstract][Full Text] [Related]
17. [Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].
Pachajoa H
Arch Argent Pediatr; 2013; 111(4):e101-4. PubMed ID: 23912296
[TBL] [Abstract][Full Text] [Related]
18. Triple X syndrome.
Afshan A
J Pak Med Assoc; 2012 Apr; 62(4):392-4. PubMed ID: 22755288
[TBL] [Abstract][Full Text] [Related]
19. Undetected sex chromosome aneuploidy by chromosomal microarray.
Markus-Bustani K; Yaron Y; Goldstein M; Orr-Urtreger A; Ben-Shachar S
Prenat Diagn; 2012 Nov; 32(11):1117-8. PubMed ID: 23034780
[TBL] [Abstract][Full Text] [Related]
20. Novel ATM mutations with ataxia-telangiectasia.
Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
