138 related articles for article (PubMed ID: 29960745)
1. Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.
Isobe K; Matsumoto H; Tamura Y; Hashimoto J; Matsubara K; Nonoyama S
Brain Dev; 2018 Nov; 40(10):891-896. PubMed ID: 29960745
[TBL] [Abstract][Full Text] [Related]
2. [Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement].
Zhong F; Lan F; Zhang X; Lin Y; Lin Y; Yan A; Tu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):402-405. PubMed ID: 28604965
[TBL] [Abstract][Full Text] [Related]
3. Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.
Hoppman-Chaney NL; Dawson DB; Nguyen L; Sengupta S; Reynolds K; McPherson E; Velagaleti G
Am J Med Genet A; 2010 Aug; 152A(8):2034-8. PubMed ID: 20602489
[TBL] [Abstract][Full Text] [Related]
4. [Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15)].
Shao M; Wang Y; Zhao N; Liu P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):85-88. PubMed ID: 34964975
[TBL] [Abstract][Full Text] [Related]
5. Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.
Riikonen RS; Wallden T; Kokkonen H
Eur J Paediatr Neurol; 2016 Jan; 20(1):164-7. PubMed ID: 26685108
[TBL] [Abstract][Full Text] [Related]
6. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
Zilina O; Kahre T; Talvik I; Oiglane-Shlik E; Tillmann V; Ounap K
Eur J Med Genet; 2014; 57(6):279-83. PubMed ID: 24704109
[TBL] [Abstract][Full Text] [Related]
7. [Delineating a supernumerary marker chromosome by combining several cytogenetic and molecular cytogenetic techniques].
Tan YQ; Di YF; Song YZ; Cheng DH; Li LY; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):392-6. PubMed ID: 17680527
[TBL] [Abstract][Full Text] [Related]
8. Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
Li H; Du J; Li W; Cheng D; He W; Yi D; Xiong B; Yuan S; Tu C; Meng L; Luo A; Lin G; Lu G; Tan YQ
Mol Cytogenet; 2018; 11():15. PubMed ID: 29441129
[TBL] [Abstract][Full Text] [Related]
9. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Kwasnicka-Crawford DA; Roberts W; Scherer SW
J Autism Dev Disord; 2007 Apr; 37(4):694-702. PubMed ID: 17006779
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
Sun ML; Zhang HG; Liu XY; Yue FG; Jiang YT; Li SB; Liu RZ
Taiwan J Obstet Gynecol; 2020 Nov; 59(6):963-967. PubMed ID: 33218423
[TBL] [Abstract][Full Text] [Related]
11. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.
Yang J; Yang Y; Huang Y; Hu Y; Chen X; Sun H; Lv Z; Cheng Q; Bao L
BMC Med Genet; 2013 Jan; 14():9. PubMed ID: 23320815
[TBL] [Abstract][Full Text] [Related]
12. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
Tohyama J; Yamamoto T; Hosoki K; Nagasaki K; Akasaka N; Ohashi T; Kobayashi Y; Saitoh S
Am J Med Genet A; 2011 Oct; 155A(10):2584-8. PubMed ID: 21910242
[TBL] [Abstract][Full Text] [Related]
13. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.
Dennis NR; Veltman MW; Thompson R; Craig E; Bolton PF; Thomas NS
Am J Med Genet A; 2006 Mar; 140(5):434-41. PubMed ID: 16470730
[TBL] [Abstract][Full Text] [Related]
14. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
Roberts SE; Dennis NR; Browne CE; Willatt L; Woods G; Cross I; Jacobs PA; Thomas S
Hum Genet; 2002 Mar; 110(3):227-34. PubMed ID: 11935334
[TBL] [Abstract][Full Text] [Related]
15. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.
Roberts SE; Maggouta F; Thomas NS; Jacobs PA; Crolla JA
Am J Hum Genet; 2003 Nov; 73(5):1061-72. PubMed ID: 14560400
[TBL] [Abstract][Full Text] [Related]
16. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
Wang NJ; Parokonny AS; Thatcher KN; Driscoll J; Malone BM; Dorrani N; Sigman M; LaSalle JM; Schanen NC
BMC Genet; 2008 Jan; 9():2. PubMed ID: 18177502
[TBL] [Abstract][Full Text] [Related]
17. Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.
Mohandas TK; Park JP; Spellman RA; Filiano JJ; Mamourian AC; Hawk AB; Belloni DR; Noll WW; Moeschler JB
Am J Med Genet; 1999 Feb; 82(4):294-300. PubMed ID: 10051161
[TBL] [Abstract][Full Text] [Related]
18. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
[TBL] [Abstract][Full Text] [Related]
19. Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
Rowe AG; Abrams L; Qu Y; Chen E; Cotter PD
Am J Med Genet; 2000 Aug; 93(5):393-8. PubMed ID: 10951463
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
