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Items: 1 to 20 of 157

1.

Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.

Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M.

Hum Mol Genet. 2007 Feb 15;16(4):374-9. Epub 2006 Dec 12. Erratum in: Hum Mol Genet. 2007 Nov 15;16(22):2781.

PMID:
17164262
2.

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K.

Am J Med Genet A. 2016 Dec;170(12):3197-3206. doi: 10.1002/ajmg.a.37949. Epub 2016 Sep 2.

3.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N.

Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773.

PMID:
20461756
4.
5.

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.

PMID:
16372351
6.

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.

J Am Soc Nephrol. 2002 Aug;13(8):2077-84.

7.
8.

[Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma].

Brinkschmidt C, Poremba C, Schäfer KL, Simon R, Jürgens H, Böcker W, Dockhorn-Dworniczak B.

Verh Dtsch Ges Pathol. 1998;82:210-4. German.

PMID:
10095436
9.

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.

J Med Genet. 2005 May;42(5):e26.

10.

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K.

Am J Med Genet A. 2008 Mar 15;146A(6):683-90. doi: 10.1002/ajmg.a.32227.

PMID:
18247425
11.

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.

Cooper WN, Curley R, Macdonald F, Maher ER.

Genomics. 2007 May;89(5):613-7. Epub 2007 Mar 6.

12.

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K.

Am J Med Genet A. 2006 Oct 15;140(20):2163-9.

PMID:
16969868
13.
14.

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.

Am J Med Genet A. 2007 Dec 15;143A(24):3010-5.

PMID:
18000906
15.

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

Kotzot D.

Eur J Med Genet. 2008 Sep-Oct;51(5):444-51. doi: 10.1016/j.ejmg.2008.06.001. Epub 2008 Jul 4.

PMID:
18655849
16.

Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.

Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM.

Oncogene. 2007 Aug 23;26(39):5816-21. Epub 2007 Mar 12.

PMID:
17353900
17.

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.

Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. Epub 2006 Mar 29.

PMID:
16603426
18.

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.

Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL.

J Med Genet. 2008 Jun;45(6):396-9. doi: 10.1136/jmg.2007.057059. Epub 2008 May 12.

PMID:
18474587
19.
20.

Allelotype of pediatric rhabdomyosarcoma.

Visser M, Sijmons C, Bras J, Arceci RJ, Godfried M, Valentijn LJ, Voûte PA, Baas F.

Oncogene. 1997 Sep;15(11):1309-14.

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