These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
350 related articles for article (PubMed ID: 23637096)
1. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. Okamoto N; Ohmachi K; Shimada S; Shimojima K; Yamamoto T Am J Med Genet A; 2013 Jun; 161A(6):1465-9. PubMed ID: 23637096 [TBL] [Abstract][Full Text] [Related]
2. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. Andersen EF; Carey JC; Earl DL; Corzo D; Suttie M; Hammond P; South ST Eur J Hum Genet; 2014 Apr; 22(4):464-70. PubMed ID: 23963300 [TBL] [Abstract][Full Text] [Related]
3. Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. Izumi K; Okuno H; Maeyama K; Sato S; Yamamoto T; Torii C; Kosaki R; Takahashi T; Kosaki K Am J Med Genet A; 2010 Apr; 152A(4):1028-32. PubMed ID: 20358621 [No Abstract] [Full Text] [Related]
4. 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]
5. De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype. Derar N; Al-Hassnan ZN; Al-Owain M; Monies D; Abouelhoda M; Meyer BF; Moghrabi N; Alkuraya FS Genet Med; 2019 Jan; 21(1):185-188. PubMed ID: 29892088 [TBL] [Abstract][Full Text] [Related]
6. De novo loss-of-function variants in Barrie ES; Alfaro MP; Pfau RB; Goff MJ; McBride KL; Manickam K; Zmuda EJ Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31171569 [TBL] [Abstract][Full Text] [Related]
7. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Boczek NJ; Lahner CA; Nguyen TM; Ferber MJ; Hasadsri L; Thorland EC; Niu Z; Gavrilova RH Am J Med Genet A; 2018 Dec; 176(12):2798-2802. PubMed ID: 30345613 [TBL] [Abstract][Full Text] [Related]
8. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Engbers H; van der Smagt JJ; van 't Slot R; Vermeesch JR; Hochstenbach R; Poot M Eur J Hum Genet; 2009 Jan; 17(1):129-32. PubMed ID: 18830230 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. Jiang Y; Sun H; Lin Q; Wang Z; Wang G; Wang J; Jiang F; Yao R BMC Med Genet; 2019 Aug; 20(1):134. PubMed ID: 31382906 [TBL] [Abstract][Full Text] [Related]
13. The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy. Hu X; Wu D; Li Y; Wei L; Li X; Qin M; Li H; Li M; Chen S; Gong C; Shen Y BMC Med Genomics; 2020 Dec; 13(1):181. PubMed ID: 33276791 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature. Mekkawy MK; Kamel AK; Thomas MM; Ashaat EA; Zaki MS; Eid OM; Ismail S; Hammad SA; Megahed H; ElAwady H; Refaat KM; Hussien S; Helmy N; Abd Allah SG; Mohamed AM; El Ruby MO Mol Genet Genomic Med; 2021 Feb; 9(2):e1546. PubMed ID: 33217222 [TBL] [Abstract][Full Text] [Related]
17. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. Hannes F; Drozniewska M; Vermeesch JR; Haus O Eur J Med Genet; 2010; 53(3):136-40. PubMed ID: 20197130 [TBL] [Abstract][Full Text] [Related]
18. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. Concolino D; Rossi E; Strisciuglio P; Iembo MA; Giorda R; Ciccone R; Tenconi R; Zuffardi O J Med Genet; 2007 Oct; 44(10):647-50. PubMed ID: 17911656 [TBL] [Abstract][Full Text] [Related]
19. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Rauch A; Schellmoser S; Kraus C; Dörr HG; Trautmann U; Altherr MR; Pfeiffer RA; Reis A Am J Med Genet; 2001 Apr; 99(4):338-42. PubMed ID: 11252005 [TBL] [Abstract][Full Text] [Related]
20. LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Hart L; Rauch A; Carr AM; Vermeesch JR; O'Driscoll M Dis Model Mech; 2014 May; 7(5):535-45. PubMed ID: 24626991 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]