361 related articles for article (PubMed ID: 23782367)
1. Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome.
Dai Y; Yang J; Chen Y; Bao L; Cheng Q
Pediatr Int; 2013 Jun; 55(3):368-70. PubMed ID: 23782367
[TBL] [Abstract][Full Text] [Related]
2. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
Zhu CJ; Huang ZY; Wu WQ; Zhao Q; Jiang HY; Xie JS
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):460-4. PubMed ID: 22931946
[TBL] [Abstract][Full Text] [Related]
3. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
South ST; Whitby H; Battaglia A; Carey JC; Brothman AR
Eur J Hum Genet; 2008 Jan; 16(1):45-52. PubMed ID: 17726485
[TBL] [Abstract][Full Text] [Related]
4. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124
[TBL] [Abstract][Full Text] [Related]
5. Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion.
Chen CP; Su YN; Chen YY; Su JW; Chern SR; Chen YT; Chen WL; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2011 Dec; 50(4):506-11. PubMed ID: 22212326
[TBL] [Abstract][Full Text] [Related]
6. Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
Benussi DG; Costa P; Zollino M; Murdolo M; Petix V; Carrozzi M; Pecile V
Genet Test Mol Biomarkers; 2009 Apr; 13(2):199-204. PubMed ID: 19378504
[TBL] [Abstract][Full Text] [Related]
7. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
South ST; Whitby H; Maxwell T; Aston E; Brothman AR; Carey JC
Am J Med Genet A; 2008 Oct; 146A(20):2691-7. PubMed ID: 18798325
[TBL] [Abstract][Full Text] [Related]
8. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.
Battaglia A; Filippi T; Carey JC
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):246-51. PubMed ID: 18932224
[TBL] [Abstract][Full Text] [Related]
9. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Bi W; Cheung SW; Breman AM; Bacino CA
Am J Med Genet A; 2016 Oct; 170(10):2540-50. PubMed ID: 27287194
[TBL] [Abstract][Full Text] [Related]
10. Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Zollino M; Lecce R; Murdolo M; Orteschi D; Marangi G; Selicorni A; Midro A; Sorge G; Zampino G; Memo L; Battaglia D; Petersen M; Pandelia E; Gyftodimou Y; Faravelli F; Tenconi R; Garavelli L; Mazzanti L; Fischetto R; Cavalli P; Savasta S; Rodriguez L; Neri G
Hum Genet; 2007 Dec; 122(5):423-30. PubMed ID: 17676343
[TBL] [Abstract][Full Text] [Related]
11. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.
Roselló M; Monfort S; Orellana C; Ferrer-Bolufer I; Quiroga R; Oltra S; Martínez F
Cytogenet Genome Res; 2009; 125(2):103-8. PubMed ID: 19729912
[TBL] [Abstract][Full Text] [Related]
12. Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.
Liang D; Zhou Z; Meng D; Du J; Wen J; Niikawa N; Wu L
Birth Defects Res A Clin Mol Teratol; 2012 Jul; 94(7):549-52. PubMed ID: 22641563
[TBL] [Abstract][Full Text] [Related]
13. 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.
Piccione M; Salzano E; Vecchio D; Ferrara D; Malacarne M; Pierluigi M; Ferrara I; Corsello G
Eur J Paediatr Neurol; 2015 Jul; 19(4):477-83. PubMed ID: 25769226
[TBL] [Abstract][Full Text] [Related]
14. Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
Iwanowski PS; Panasiuk B; Van Buggenhout G; Murdolo M; Myśliwiec M; Maas NM; Lattante S; Korniszewski L; Posmyk R; Pilch J; Zajączek S; Fryns JP; Zollino M; Midro AT
Am J Med Genet A; 2011 Aug; 155A(8):1833-47. PubMed ID: 21744486
[TBL] [Abstract][Full Text] [Related]
15. De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Sagar A; Pinto D; Najjar F; Guter SJ; Macmillan C; Cook EH
Am J Med Genet A; 2017 Jun; 173(6):1656-1662. PubMed ID: 28407363
[TBL] [Abstract][Full Text] [Related]
16. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Flipsen-ten Berg K; van Hasselt PM; Eleveld MJ; van der Wijst SE; Hol FA; de Vroede MA; Beemer FA; Hochstenbach PF; Poot M
Eur J Hum Genet; 2007 Nov; 15(11):1132-8. PubMed ID: 17637805
[TBL] [Abstract][Full Text] [Related]
17. Clinical features in adult patient with Wolf-Hirschhorn syndrome.
Martínez-Quintana E; Rodríguez-González F
Morphologie; 2014 Jun; 98(321):86-9. PubMed ID: 24656633
[TBL] [Abstract][Full Text] [Related]
18. Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.
Bragagnolo S; Colovati ME; Guilherme RS; Dantas AG; de Souza MZ; de Soares MF; Melaragno MI; Perez AB
Cytogenet Genome Res; 2016; 150(1):17-22. PubMed ID: 27842301
[TBL] [Abstract][Full Text] [Related]
19. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
Zollino M; Lecce R; Selicorni A; Murdolo M; Mancuso I; Marangi G; Zampino G; Garavelli L; Ferrarini A; Rocchi M; Opitz JM; Neri G
Eur J Hum Genet; 2004 Oct; 12(10):797-804. PubMed ID: 15241479
[TBL] [Abstract][Full Text] [Related]
20. Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
Ali MH; Azar NF; Aakalu V; Chau FY; Abbasian J; Setabutr P; Maumenee IH
Ophthalmic Genet; 2018 Apr; 39(2):271-274. PubMed ID: 29199884
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
