1063 related articles for article (PubMed ID: 29549028)
1. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
2. Chromosome 15q24 microdeletion syndrome.
Magoulas PL; El-Hattab AW
Orphanet J Rare Dis; 2012 Jan; 7():2. PubMed ID: 22216833
[TBL] [Abstract][Full Text] [Related]
3. Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
Liu Y; Mapow B
Mol Genet Genomic Med; 2020 Jul; 8(7):e1265. PubMed ID: 32400031
[TBL] [Abstract][Full Text] [Related]
4. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Wang R; Lei T; Fu F; Li R; Jing X; Yang X; Liu J; Li D; Liao C
Pediatr Neonatol; 2019 Feb; 60(1):35-42. PubMed ID: 29631977
[TBL] [Abstract][Full Text] [Related]
5. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
Jing X; Zhang L; Li R; Zhang Y; Li F; Yi C; Liao C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):672-675. PubMed ID: 31302908
[TBL] [Abstract][Full Text] [Related]
7. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.
Kiholm Lund AB; Hove HD; Kirchhoff M
Eur J Med Genet; 2008; 51(6):520-6. PubMed ID: 18755302
[TBL] [Abstract][Full Text] [Related]
8. Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Liu Y; Zhang Y; Zarrei M; Dong R; Yang X; Zhao D; Scherer SW; Gai Z
Am J Med Genet B Neuropsychiatr Genet; 2020 Jun; 183(4):217-226. PubMed ID: 31953991
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW; Mefford HC; Menten B; Koolen DA; Sharp AJ; Nillesen WM; Innis JW; de Ravel TJ; Mercer CL; Fichera M; Stewart H; Connell LE; Ounap K; Lachlan K; Castle B; Van der Aa N; van Ravenswaaij C; Nobrega MA; Serra-Juhé C; Simonic I; de Leeuw N; Pfundt R; Bongers EM; Baker C; Finnemore P; Huang S; Maloney VK; Crolla JA; van Kalmthout M; Elia M; Vandeweyer G; Fryns JP; Janssens S; Foulds N; Reitano S; Smith K; Parkel S; Loeys B; Woods CG; Oostra A; Speleman F; Pereira AC; Kurg A; Willatt L; Knight SJ; Vermeesch JR; Romano C; Barber JC; Mortier G; Pérez-Jurado LA; Kooy F; Brunner HG; Eichler EE; Kleefstra T; de Vries BB
J Med Genet; 2009 Aug; 46(8):511-23. PubMed ID: 19372089
[TBL] [Abstract][Full Text] [Related]
10. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
El-Hattab AW; Smolarek TA; Walker ME; Schorry EK; Immken LL; Patel G; Abbott MA; Lanpher BC; Ou Z; Kang SH; Patel A; Scaglia F; Lupski JR; Cheung SW; Stankiewicz P
Hum Genet; 2009 Oct; 126(4):589-602. PubMed ID: 19557438
[TBL] [Abstract][Full Text] [Related]
11. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
Klopocki E; Graul-Neumann LM; Grieben U; Tönnies H; Ropers HH; Horn D; Mundlos S; Ullmann R
Eur J Pediatr; 2008 Aug; 167(8):903-8. PubMed ID: 17932688
[TBL] [Abstract][Full Text] [Related]
12. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
L Ng IS; Chin WH; P Lim EC; Tan EC
Twin Res Hum Genet; 2011 Aug; 14(4):333-9. PubMed ID: 21787116
[TBL] [Abstract][Full Text] [Related]
13. Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
Pavone P; Falsaperla R; Rizzo R; Praticò AD; Ruggieri M
Eur J Med Genet; 2019 Jan; 62(1):47-54. PubMed ID: 29864511
[TBL] [Abstract][Full Text] [Related]
14. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Miller DT; Shen Y; Weiss LA; Korn J; Anselm I; Bridgemohan C; Cox GF; Dickinson H; Gentile J; Harris DJ; Hegde V; Hundley R; Khwaja O; Kothare S; Luedke C; Nasir R; Poduri A; Prasad K; Raffalli P; Reinhard A; Smith SE; Sobeih MM; Soul JS; Stoler J; Takeoka M; Tan WH; Thakuria J; Wolff R; Yusupov R; Gusella JF; Daly MJ; Wu BL
J Med Genet; 2009 Apr; 46(4):242-8. PubMed ID: 18805830
[TBL] [Abstract][Full Text] [Related]
15. Distal 22q11.2 microduplication encompassing the BCR gene.
Descartes M; Franklin J; Diaz de Ståhl T; Piotrowski A; Bruder CE; Dumanski JP; Carroll AJ; Mikhail FM
Am J Med Genet A; 2008 Dec; 146A(23):3075-81. PubMed ID: 19006218
[TBL] [Abstract][Full Text] [Related]
16. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
Vuillaume ML; Delrue MA; Naudion S; Toutain J; Fergelot P; Arveiler B; Lacombe D; Rooryck C
Mol Genet Metab; 2013; 110(1-2):90-7. PubMed ID: 23920044
[TBL] [Abstract][Full Text] [Related]
17. [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
Zhang LN; Meng Z; He ZW; Li DF; Luo XY; Liang LY
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Sep; 18(9):840-845. PubMed ID: 27655541
[TBL] [Abstract][Full Text] [Related]
18. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
[TBL] [Abstract][Full Text] [Related]
19. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
Chang J; Zhao L; Chen C; Peng Y; Xia Y; Tang G; Bai T; Zhang Y; Ma R; Guo R; Mei L; Liang D; Cao Q; Wu L
Gene; 2015 Sep; 569(1):46-50. PubMed ID: 26099517
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
Chen CP; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen YY; Pan CW; Wang W
Taiwan J Obstet Gynecol; 2020 May; 59(3):432-436. PubMed ID: 32416893
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
