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Results: 1 to 20 of 294

1.

A case of segmental paternal isodisomy of chromosome 14.

Coveler KJ, Yang SP, Sutton R, Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG.

Hum Genet. 2002 Mar;110(3):251-6. Epub 2002 Feb 26. Review.

PMID:
11935337
[PubMed - indexed for MEDLINE]
2.

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG.

Am J Med Genet. 1995 Nov 20;59(3):271-5. Review.

PMID:
8599348
[PubMed - indexed for MEDLINE]
3.

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.

Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG.

Am J Med Genet. 1999 Jan 29;82(3):275-81.

PMID:
10215554
[PubMed - indexed for MEDLINE]
4.

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.

Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M.

Am J Med Genet A. 2007 Sep 15;143A(18):2165-71.

PMID:
17702046
[PubMed - indexed for MEDLINE]
5.

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.

Chu C, Schwartz S, McPherson E.

Am J Med Genet A. 2004 Jun 1;127A(2):167-71.

PMID:
15108205
[PubMed - indexed for MEDLINE]
6.

Fortuitous detection of uniparental isodisomy of chromosome 6.

Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis SE, Plouvier E, Herve P, Tiberghien P.

J Med Genet. 1997 Jan;34(1):77-8.

PMID:
9032654
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N.

Am J Med Genet A. 2004 Sep 15;130A(1):88-91.

PMID:
15368501
[PubMed - indexed for MEDLINE]
8.

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N.

J Hum Genet. 1998;43(2):138-42. Review.

PMID:
9621521
[PubMed - indexed for MEDLINE]
9.

The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.

Ginsburg C, Fokstuen S, Schinzel A.

Am J Med Genet. 2000 Dec 18;95(5):454-60.

PMID:
11146466
[PubMed - indexed for MEDLINE]
10.

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr.

Am J Hum Genet. 1993 Jun;52(6):1145-52.

PMID:
8503447
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.

Sutton VR, Shaffer LG.

Am J Med Genet. 2000 Aug 28;93(5):381-7. Review.

PMID:
10951461
[PubMed - indexed for MEDLINE]
12.

Paternal uniparental disomy for chromosome 14: a case report and review.

Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K.

Am J Med Genet. 1997 May 2;70(1):74-9. Review.

PMID:
9129745
[PubMed - indexed for MEDLINE]
13.

Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.

Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N.

Am J Med Genet. 2001 Dec 1;104(3):250-6.

PMID:
11754053
[PubMed - indexed for MEDLINE]
14.

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.

Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T.

Am J Med Genet A. 2005 Oct 1;138A(2):127-32. Review.

PMID:
16152632
[PubMed - indexed for MEDLINE]
15.

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE.

Am J Hum Genet. 2000 Dec;67(6):1586-91. Epub 2000 Oct 18.

PMID:
11038325
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN, Oakey RJ.

Am J Med Genet A. 2010 Aug;152A(8):1942-50. doi: 10.1002/ajmg.a.33449.

PMID:
20602488
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW.

Hum Mutat. 2006 Feb;27(2):133-7.

PMID:
16429396
[PubMed - indexed for MEDLINE]
18.

Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region.

Robin NH, Harari-Shacham A, Schwartz S, Wolff DJ.

Am J Med Genet. 1997 Aug 22;71(3):361-5.

PMID:
9268110
[PubMed - indexed for MEDLINE]
19.
20.

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB.

Am J Med Genet A. 2004 Jan 30;124A(3):274-9.

PMID:
14708100
[PubMed - indexed for MEDLINE]

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