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References
These sources were used to develop the Genetics Home Reference
chromosome summary
on chromosome 4.
Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar;21(3):188-95. Review.
PubMed citation
Buitenhuis M, Verhagen LP, Cools J, Coffer PJ. Molecular mechanisms underlying FIP1L1-PDGFRA-mediated myeloproliferation. Cancer Res. 2007 Apr 15;67(8):3759-66.
PubMed citation
Chen CP, Chern SR, Lee CC, Chang TY, Wang W, Tzen CY. Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4. Prenat Diagn. 2004 Jan;24(1):38-44. Review.
PubMed citation
Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003 Mar 27;348(13):1201-14.
PubMed citation
Ensembl Human Map
View
Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 4. Genet Test. 2003 Winter;7(4):351-72.
PubMed citation
Hayne CC, Winer E, Williams T, Chaves F, Khorsand J, Mark HF. Acute lymphoblastic leukemia with 4;11 translocation analyzed by a multi-modal strategy of conventional cytogenetics, FISH, morphology, flow cytometry and molecular genetics, and review of the literature. Exp Mol Pathol. 2006 Aug;81(1):62-71. Epub 2006 Jun 12. Review.
PubMed citation
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31.
PubMed citation
Keats JJ, Maxwell CA, Taylor BJ, Hendzel MJ, Chesi M, Bergsagel PL, Larratt LM, Mant MJ, Reiman T, Belch AR, Pilarski LM. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. Blood. 2005 May 15;105(10):4060-9. Epub 2005 Jan 27.
PubMed citation
Keats JJ, Reiman T, Belch AR, Pilarski LM. Ten years and counting: so what do we know about t(4;14)(p16;q32) multiple myeloma. Leuk Lymphoma. 2006 Nov;47(11):2289-300. Review.
PubMed citation
Lundin C, Zech L, Sjörs K, Wadelius C, Annerén G. Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet. 2002 Apr-Jun;45(2):53-7. Review.
PubMed citation
Map Viewer: Genes on
Sequence
Pai, G Shashidhar; Lewandowski, Raymond C; Borgaonkar, Digamber S; Handbook of chromosomal syndromes; Hoboken, N.J. : Wiley-Liss, c2003.
Roufosse FE, Goldman M, Cogan E. Hypereosinophilic syndromes. Orphanet J Rare Dis. 2007 Sep 11;2:37. Review.
PubMed citation
South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4. doi: 10.1002/ajmg.c.30188.
PubMed citation
Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008 Oct;5(4):601-6. doi: 10.1016/j.nurt.2008.07.005. Review.
PubMed citation
UCSC Genome Browser:
Statistics
van der Maarel SM, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007 Feb;1772(2):186-94. Epub 2006 Jun 6. Review.
PubMed citation
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003 Mar;72(3):590-7. Epub 2003 Jan 30.
PubMed citation
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Review.
PubMed citation
Reviewed: February 2012
Published: June 17, 2013