161 related articles for article (PubMed ID: 28794913)
1. Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.
Mbuyi-Musanzayi S; Lumaka A; Kasole TL; Ilunga EK; Asani BY; Tshilobo PL; Muenze PK; Reychler H; Katombe FT; Devriendt K
J Pediatr Genet; 2017 Sep; 6(3):186-190. PubMed ID: 28794913
[TBL] [Abstract][Full Text] [Related]
2. From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC; Bruno I; Barbi E; Sirchia F
Ital J Pediatr; 2022 May; 48(1):72. PubMed ID: 35550183
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
[TBL] [Abstract][Full Text] [Related]
4. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.
So J; Müller I; Kunath M; Herrmann S; Ullmann R; Schweiger S
Am J Med Genet A; 2008 Jan; 146A(1):103-9. PubMed ID: 18074389
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.
Titomanlio L; Romano A; Conti A; Genesio R; Salerno M; De Brasi D; Nitsch L; Del Giudice E
Am J Med Genet A; 2004 Jun; 127A(2):197-200. PubMed ID: 15108211
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome.
Yang WX; Pan H; Wang ST; Li L; Wu HR; Qi Y
Taiwan J Obstet Gynecol; 2016 Feb; 55(1):104-8. PubMed ID: 26927259
[TBL] [Abstract][Full Text] [Related]
9. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.
Yang WX; Pan H; Li L; Wu HR; Wang ST; Bao XH; Jiang YW; Qi Y
Chin Med J (Engl); 2016 Mar; 129(6):672-8. PubMed ID: 26960370
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Uncommon oral cleft in Wolf-Hirschhorn syndrome.
Aquino SN; Machado RA; Paranaíba LM; Coletta RD; Aguiar MJ; Fernandes C; Martelli Júnior H
Braz Dent J; 2015; 26(2):203-6. PubMed ID: 25831115
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mouse models for the Wolf-Hirschhorn deletion syndrome.
Näf D; Wilson LA; Bergstrom RA; Smith RS; Goodwin NC; Verkerk A; van Ommen GJ; Ackerman SL; Frankel WN; Schimenti JC
Hum Mol Genet; 2001 Jan; 10(2):91-8. PubMed ID: 11152656
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.
Yamamoto-Shimojima K; Kouwaki M; Kawashima Y; Itomi K; Momosaki K; Ozasa S; Okamoto N; Yokochi K; Yamamoto T
Congenit Anom (Kyoto); 2019 Sep; 59(5):169-173. PubMed ID: 30378700
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variations in wolf-hirschhorn syndrome.
Sukarova-Angelovska E; Kocova M; Sabolich V; Palcevska S; Angelkova N
Balkan J Med Genet; 2014 Jun; 17(1):23-30. PubMed ID: 25741211
[TBL] [Abstract][Full Text] [Related]
17. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
Zollino M; Orteschi D; Ruiter M; Pfundt R; Steindl K; Cafiero C; Ricciardi S; Contaldo I; Chieffo D; Ranalli D; Acquafondata C; Murdolo M; Marangi G; Asaro A; Battaglia D
Epilepsia; 2014 Jun; 55(6):849-57. PubMed ID: 24738919
[TBL] [Abstract][Full Text] [Related]
18. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.
von Elten K; Sawyer T; Lentz-Kapua S; Kanis A; Studer M
Pediatr Cardiol; 2013 Jun; 34(5):1244-6. PubMed ID: 22639003
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
