203 related articles for article (PubMed ID: 18393291)
1. Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.
Páez MT; Yamamoto T; Hayashi K; Yasuda T; Harada N; Matsumoto N; Kurosawa K; Furutani Y; Asakawa S; Shimizu N; Matsuoka R
Am J Med Genet A; 2008 May; 146A(9):1158-65. PubMed ID: 18393291
[TBL] [Abstract][Full Text] [Related]
2. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Barber JC; Rosenfeld JA; Graham JM; Kramer N; Lachlan KL; Bateman MS; Collinson MN; Stadheim BF; Turner CL; Gauthier JN; Reimschisel TE; Qureshi AM; Dabir TA; Humphreys MW; Marble M; Huang T; Beal SJ; Massiah J; Taylor EJ; Wynn SL
Am J Med Genet A; 2015 Sep; 167A(9):2052-64. PubMed ID: 26097203
[TBL] [Abstract][Full Text] [Related]
3. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Wat MJ; Shchelochkov OA; Holder AM; Breman AM; Dagli A; Bacino C; Scaglia F; Zori RT; Cheung SW; Scott DA; Kang SH
Am J Med Genet A; 2009 Aug; 149A(8):1661-77. PubMed ID: 19606479
[TBL] [Abstract][Full Text] [Related]
4. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
Devriendt K; Matthijs G; Van Dael R; Gewillig M; Eyskens B; Hjalgrim H; Dolmer B; McGaughran J; Bröndum-Nielsen K; Marynen P; Fryns JP; Vermeesch JR
Am J Hum Genet; 1999 Apr; 64(4):1119-26. PubMed ID: 10090897
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
Ballarati L; Cereda A; Caselli R; Selicorni A; Recalcati MP; Maitz S; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2011; 54(1):55-9. PubMed ID: 20969981
[TBL] [Abstract][Full Text] [Related]
6. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.
Pehlivan T; Pober BR; Brueckner M; Garrett S; Slaugh R; Van Rheeden R; Wilson DB; Watson MS; Hing AV
Am J Med Genet; 1999 Mar; 83(3):201-6. PubMed ID: 10096597
[TBL] [Abstract][Full Text] [Related]
7. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
Cingöz S; Bache I; Bjerglund L; Ropers HH; Tommerup N; Jensen H; Brøndum-Nielsen K; Tümer Z
Am J Med Genet A; 2011 Jan; 155A(1):203-6. PubMed ID: 21204233
[TBL] [Abstract][Full Text] [Related]
8. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Catusi I; Garzo M; Capra AP; Briuglia S; Baldo C; Canevini MP; Cantone R; Elia F; Forzano F; Galesi O; Grosso E; Malacarne M; Peron A; Romano C; Saccani M; Larizza L; Recalcati MP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925474
[TBL] [Abstract][Full Text] [Related]
9. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
Shi S; Lin S; Chen B; Zhou Y
Mol Med Rep; 2017 Nov; 16(5):6837-6845. PubMed ID: 28901431
[TBL] [Abstract][Full Text] [Related]
10. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
Cuscó I; del Campo M; Vilardell M; González E; Gener B; Galán E; Toledo L; Pérez-Jurado LA
BMC Med Genet; 2008 Apr; 9():27. PubMed ID: 18405349
[TBL] [Abstract][Full Text] [Related]
11. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
Mackenroth L; Hackmann K; Klink B; Weber JS; Mayer B; Schröck E; Tzschach A
Am J Med Genet A; 2016 Sep; 170(9):2394-9. PubMed ID: 27255444
[TBL] [Abstract][Full Text] [Related]
12. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
Digilio MC; Bernardini L; Lepri F; Giuffrida MG; Guida V; Baban A; Versacci P; Capolino R; Torres B; De Luca A; Novelli A; Marino B; Dallapiccola B
Am J Med Genet A; 2011 Sep; 155A(9):2196-202. PubMed ID: 21815254
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Zollino M; Di Stefano C; Zampino G; Mastroiacovo P; Wright TJ; Sorge G; Selicorni A; Tenconi R; Zappalà A; Battaglia A; Di Rocco M; Palka G; Pallotta R; Altherr MR; Neri G
Am J Med Genet; 2000 Sep; 94(3):254-61. PubMed ID: 10995514
[TBL] [Abstract][Full Text] [Related]
14. 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
Molck MC; Monteiro FP; Simioni M; Gil-da-Silva-Lopes VL
J Dev Behav Pediatr; 2015 Sep; 36(7):544-8. PubMed ID: 26263419
[TBL] [Abstract][Full Text] [Related]
15. Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.
Yu S; Zhou XG; Fiedler SD; Brawner SJ; Joyce JM; Liu HY
Circ Cardiovasc Genet; 2011 Dec; 4(6):620-5. PubMed ID: 21933911
[TBL] [Abstract][Full Text] [Related]
16. De novo 8p23.1 deletion in a patient with absence epilepsy.
Akcakaya NH; Capan ÖY; Schulz H; Sander T; Caglayan SH; Yapıcı Z
Epileptic Disord; 2017 Jun; 19(2):217-221. PubMed ID: 28533195
[TBL] [Abstract][Full Text] [Related]
17. Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.
Guimiot F; Dupont C; Fuentes-Duarte A; Aboura A; Bazin A; Khung-Savatovsky S; Tillous-Borde I; Delezoide AL; Azancot A
Am J Med Genet A; 2013 Jan; 161A(1):208-13. PubMed ID: 23239632
[TBL] [Abstract][Full Text] [Related]
18. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Burnside RD; Pappas JG; Sacharow S; Applegate C; Hamosh A; Gadi IK; Jaswaney V; Keitges E; Phillips KK; Potluri VR; Risheg H; Smith JL; Tepperberg JH; Schwartz S; Papenhausen P
Am J Med Genet A; 2013 Apr; 161A(4):822-8. PubMed ID: 23495222
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
Mei M; Yang L; Zhan G; Wang H; Ma D; Zhou W; Huang G
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):460-3. PubMed ID: 25190168
[TBL] [Abstract][Full Text] [Related]
20. [Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion].
Feng Q; Xie J; Liu Y; Geng Q; Wu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):44-47. PubMed ID: 31922595
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]