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Items: 11

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.

2.

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.

Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. Epub 2005 Mar 2.

PMID:
16053907
3.

Detecting rearrangements in children using subtelomeric FISH and SKY.

Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I.

Am J Med Genet. 2002 Feb 1;107(4):267-74.

PMID:
11840482
5.

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.

Fert-Ferrer S, Guichet A, Tantau J, Delezoide AL, Ozilou C, Romana SP, Gosset P, Viot G, Loison S, Moraine C, Morichon-Delvallez N, Turleau C, Vekemans M, Prieur M.

Prenat Diagn. 2000 Jun;20(6):511-5.

PMID:
10861719
6.

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF.

Eur J Hum Genet. 1998 May-Jun;6(3):194-200.

7.

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A.

Am J Med Genet. 1998 Oct 12;79(5):347-53.

PMID:
9779800
8.

Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21).

Rees MI, Worwood M, Thompson PW, Gilbertson C, May A.

Br J Haematol. 1994 Jun;87(2):386-95.

PMID:
7947283
9.

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations.

McCorquodale MM, Rolf J, Ruppert ES, Kurczynski TW, Kolacki P.

Am J Med Genet. 1986 Aug;24(4):613-22.

PMID:
3740096
10.

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.

Henry I, Jeanpierre M, Couillin P, Barichard F, Serre JL, Journel H, Lamouroux A, Turleau C, de Grouchy J, Junien C.

Hum Genet. 1989 Feb;81(3):273-7.

PMID:
2921038
11.

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

Koufos A, Grundy P, Morgan K, Aleck KA, Hadro T, Lampkin BC, Kalbakji A, Cavenee WK.

Am J Hum Genet. 1989 May;44(5):711-9.

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