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Items: 1 to 20 of 39

1.

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.

2.

Transient neonatal diabetes, a disorder of imprinting.

Temple IK, Shield JP.

J Med Genet. 2002 Dec;39(12):872-5. Review.

3.

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S.

Ann Genet. 2001 Jan-Mar;44(1):41-5. Review.

PMID:
11334617
4.

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
6.

A review of known imprinting syndromes and their association with assisted reproduction technologies.

Amor DJ, Halliday J.

Hum Reprod. 2008 Dec;23(12):2826-34. doi: 10.1093/humrep/den310. Epub 2008 Aug 14. Review.

7.

Confined placental mosaicism and genomic imprinting.

Kalousek DK, Vekemans M.

Baillieres Best Pract Res Clin Obstet Gynaecol. 2000 Aug;14(4):723-30. Review.

PMID:
10985941
8.

Transient neonatal diabetes mellitus type 1.

Mackay DJ, Temple IK.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. Review.

PMID:
20803656
9.

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
10.

Diabetes Mellitus, 6q24-Related Transient Neonatal.

Temple IK, Mackay DJG, Docherty LE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Oct 10 [updated 2015 Jan 15].

11.

[Uniparental disomy: a review of causes and clinical sequelae].

Engel E.

Ann Genet. 1995;38(3):113-36. Review. French.

PMID:
8540683
12.

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53. doi: 10.1007/s10545-009-9014-9. Epub 2009 Dec 23. Review.

PMID:
20033293
13.

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.

Engel E, DeLozier-Blanchet CD.

Am J Med Genet. 1991 Sep 15;40(4):432-9. Review.

PMID:
1746607
14.

Prenatal testing for uniparental disomy: indications and clinical relevance.

Kotzot D.

Ultrasound Obstet Gynecol. 2008 Jan;31(1):100-5. Review.

15.

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth.

Delaval K, Wagschal A, Feil R.

Bioessays. 2006 May;28(5):453-9. Review.

PMID:
16615080
17.

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Hitchins MP, Stanier P, Preece MA, Moore GE.

J Med Genet. 2001 Dec;38(12):810-9. Review.

18.

The genetic aetiology of Silver-Russell syndrome.

Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE.

J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21. Review.

PMID:
18156438
19.

Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes.

Marquis E, Robert JJ, Bouvattier C, Bellanné-Chantelot C, Junien C, Diatloff-Zito C.

J Med Genet. 2002 May;39(5):370-4. Review. No abstract available.

20.

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Eggermann T.

Horm Res. 2009 Apr;71 Suppl 2:30-5. doi: 10.1159/000192433. Epub 2009 Apr 29. Review.

PMID:
19407494
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