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Items: 1 to 20 of 31

1.

Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8.

Vanhaesebrouck S, Van Laere D, Fryns JP, Theyskens C.

Am J Med Genet A. 2007 Oct 15;143A(20):2469-72. No abstract available.

PMID:
17853456
2.

Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.

Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P.

Prenat Diagn. 2006 May;26(5):418-9.

PMID:
16532523
3.

DNA sequence and analysis of human chromosome 8.

Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glöckner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES.

Nature. 2006 Jan 19;439(7074):331-5.

PMID:
16421571
4.

Prenatal diagnosis of mosaic tetrasomy 8p.

Le Bris MJ, Marcorelles P, Audrézet MP, Parent P, Heren P, Le Guern H, Herry A, Morel F, Collet M, Férec C, De Braekeleer M.

Am J Med Genet A. 2003 Jul 1;120A(1):44-8.

PMID:
12794691
5.

Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.

Engelen JJ, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ.

Am J Med Genet A. 2003 Apr 30;118A(3):274-8.

PMID:
12673659
6.

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Borrell A.

Prenat Diagn. 2003 Apr;23(4):319-22.

PMID:
12673638
7.
8.
9.

Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.

Karanjawala ZE, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins FS.

Am J Med Genet. 2000 Jul 31;93(3):207-10.

PMID:
10925383
10.

Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting.

Batanian JR, Huang Y, Gottesman GS, Grange DK, Blasingame AV.

Am J Med Genet. 2000 Feb 14;90(4):276-82. Review.

PMID:
10710223
11.

Ring chromosome 8 syndrome: further characterization.

Tonk VS, Kukolich MK, Morgan D, Khan A, Jalal SM.

Am J Med Genet. 2000 Jan 17;90(2):162-4.

PMID:
10607957
12.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T.

Hum Genet. 1997 Dec;101(3):255-62.

PMID:
9439652
13.

Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism.

Griffin DK, Millie EA, Redline RW, Hassold TJ, Zaragoza MV.

Am J Med Genet. 1997 Oct 31;72(3):297-301.

PMID:
9332658
14.

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson W, Hayden M.

Am J Hum Genet. 1996 Aug;59(2):431-6.

15.

Mosaic "tetrasomy" 8p: case report and review of the literature.

Winters J, Markello T, Nance W, Jackson-Cook C.

Clin Genet. 1995 Oct;48(4):195-8. Review.

PMID:
8591671
16.

Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Plattner R, Heerema NA, Yurov YB, Palmer CG.

Hum Genet. 1993 Mar;91(2):131-40.

PMID:
8462972
17.

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

Fisher AM, Barber JC, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR.

Am J Med Genet. 1993 Aug 1;47(1):100-5. Review.

PMID:
8368238
18.

Mosaic isochromosome 8p.

Tilstra DJ, Grove M, Spencer AC, Norwood TH, Pagon RA.

Am J Med Genet. 1993 Jun 15;46(5):517-9. Review.

PMID:
8322812
19.

Mosaic tetrasomy 8p.

Newton D, Hammond L, Wiley J, Kushnick T.

Am J Med Genet. 1993 Jun 15;46(5):513-6. Review.

PMID:
8322811
20.
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