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Items: 1 to 20 of 60


Epigenetic activation of WHSC1 functions as an oncogene and is associated with poor prognosis in cervical cancer.

Yin Z, Sun Y, Ge S, Sun J.

Oncol Rep. 2017 Apr;37(4):2286-2294. doi: 10.3892/or.2017.5463. Epub 2017 Feb 17.


A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Liang L, Xie Y, Shen Y, Yin Q, Yuan H.

Cytogenet Genome Res. 2016;150(2):112-117. doi: 10.1159/000454698. Epub 2016 Dec 29.


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. doi: 10.1159/000452237. Epub 2016 Nov 15.


Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration.

Rutherford EL, Lowery LA.

Dev Biol. 2016 Dec 1;420(1):1-10. doi: 10.1016/j.ydbio.2016.10.012. Epub 2016 Oct 21. Review.


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 20;129(6):672-8. doi: 10.4103/0366-6999.177996.


Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.

Kurtovic-Kozaric A, Mehinovic L, Stomornjak-Vukadin M, Kurtovic-Basic I, Catibusic F, Kozaric M, Mesihovic-Dinarevic S, Hasanhodzic M, Glamuzina D.

Bosn J Basic Med Sci. 2016 Mar 3;16(2):121-5. doi: 10.17305/bjbms.2016.994.


Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide.

Itakura A, Saito Y, Nishimura Y, Okazaki T, Ohno K, Sejima H, Yamamoto T, Maegaki Y.

Brain Dev. 2016 Aug;38(7):658-62. doi: 10.1016/j.braindev.2016.01.001. Epub 2016 Jan 18.


Transition state for the NSD2-catalyzed methylation of histone H3 lysine 36.

Poulin MB, Schneck JL, Matico RE, McDevitt PJ, Huddleston MJ, Hou W, Johnson NW, Thrall SH, Meek TD, Schramm VL.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1197-201. doi: 10.1073/pnas.1521036113. Epub 2016 Jan 19.


Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A.

J Med Genet. 2016 Apr;53(4):256-63. doi: 10.1136/jmedgenet-2015-103626. Epub 2016 Jan 8.


LETM1 overexpression is correlated with the clinical features and survival outcome of breast cancer.

Li N, Zheng Y, Xuan C, Lin Z, Piao L, Liu S.

Int J Clin Exp Pathol. 2015 Oct 1;8(10):12893-900. eCollection 2015.


Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome.

Karalok ZS, Arhan EP, Erdogan KM, Gurkas E.

Childs Nerv Syst. 2016 Jan;32(1):9-11. doi: 10.1007/s00381-015-2967-0. Epub 2015 Nov 20. No abstract available.


A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH.

BMC Med Genet. 2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5.


Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM.

Biomed Res Int. 2015;2015:781294. doi: 10.1155/2015/781294. Epub 2015 Sep 16. Review.


Wolf-Hirschhorn syndrome: A review and update.

Battaglia A, Carey JC, South ST.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):216-23. doi: 10.1002/ajmg.c.31449. Epub 2015 Aug 4. Review.


Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.

Ahmed M, Ura K, Streit A.

Dis Model Mech. 2015 Sep;8(9):1027-35. doi: 10.1242/dmm.019547. Epub 2015 Jun 18.


The NSD family of protein methyltransferases in human cancer.

Vougiouklakis T, Hamamoto R, Nakamura Y, Saloura V.

Epigenomics. 2015 Aug;7(5):863-74. doi: 10.2217/epi.15.32. Epub 2015 May 5. Review.


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 Mar-Apr;26(2):203-6. doi: 10.1590/0103-6440201302377. Epub 2015 Apr 1.


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. doi: 10.1016/j.ejpn.2015.02.002. Epub 2015 Feb 23.


Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome.

Isfort AH, Banks TA.

Clin Pediatr (Phila). 2015 Oct;54(11):1120-2. doi: 10.1177/0009922815570625. Epub 2015 Feb 10. No abstract available.


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