309 related articles for article (PubMed ID: 17850637)
1. Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Saitoh S; Hosoki K; Takano K; Tonoki H
Clin Genet; 2007 Oct; 72(4):378-80. PubMed ID: 17850637
[No Abstract] [Full Text] [Related]
2. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
Calounova G; Novotna D; Simandlova M; Havlovicova M; Zumrová A; Kocarek E; Sedlacek Z
Neuro Endocrinol Lett; 2006 Oct; 27(5):579-85. PubMed ID: 17159828
[TBL] [Abstract][Full Text] [Related]
3. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
Salavoura K; Kolialexi A; Sofocleous C; Kalaitzidaki M; Pampanos A; Kitsiou S; Mavrou A
Genet Couns; 2008; 19(2):219-24. PubMed ID: 18618997
[TBL] [Abstract][Full Text] [Related]
4. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
Horsthemke B; Nazlican H; Hüsing J; Klein-Hitpass L; Claussen U; Michel S; Lich C; Gillessen-Kaesbach G; Buiting K
Hum Mol Genet; 2003 Oct; 12(20):2723-32. PubMed ID: 12944418
[TBL] [Abstract][Full Text] [Related]
5. A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
Giardina E; Peconi C; Cascella R; Sinibaldi C; Nardone AM; Novelli G
Electrophoresis; 2008 Dec; 29(23):4775-9. PubMed ID: 19053076
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18474587
[TBL] [Abstract][Full Text] [Related]
7. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
Izumi K; Santani AB; Deardorff MA; Feret HA; Tischler T; Thiel BD; Mulchandani S; Stolle CA; Spinner NB; Zackai EH; Conlin LK
Am J Med Genet A; 2013 Jan; 161A(1):166-71. PubMed ID: 23225330
[TBL] [Abstract][Full Text] [Related]
8. Maternal uniparental disomy in a patient with Prader-Willi syndrome with an additional small inv dup(15) chromosome.
Wang YM; Chuang L; Wang BT; Kuo PL
J Formos Med Assoc; 2004 Dec; 103(12):943-7. PubMed ID: 15624046
[TBL] [Abstract][Full Text] [Related]
9. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Engelen JJ; Loots WJ; Albrechts JC; Schrander-Stumpel CT; Dirckx R; Smeets HJ; Hamers AJ; Geraedts JP
Genet Couns; 1999; 10(2):123-32. PubMed ID: 10422004
[TBL] [Abstract][Full Text] [Related]
10. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
Zilina O; Kahre T; Talvik I; Oiglane-Shlik E; Tillmann V; Ounap K
Eur J Med Genet; 2014; 57(6):279-83. PubMed ID: 24704109
[TBL] [Abstract][Full Text] [Related]
11. 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; 95(5):454-60. PubMed ID: 11146466
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.
Slater HR; Vaux C; Pertile M; Burgess T; Petrovic V
Prenat Diagn; 1997 Feb; 17(2):109-13. PubMed ID: 9061757
[TBL] [Abstract][Full Text] [Related]
13. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.
Verhoeven WM; de Vries BB; Duffels SJ; Egger JI; Noordam C; Tuinier S
Psychopathology; 2007; 40(5):356-60. PubMed ID: 17657135
[TBL] [Abstract][Full Text] [Related]
14. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
Cockwell AE; Dávalos IP; Rivera HR; Crolla JA
Am J Med Genet; 2001 Nov; 103(4):289-94. PubMed ID: 11746008
[TBL] [Abstract][Full Text] [Related]
15. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
[TBL] [Abstract][Full Text] [Related]
16. Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?
Kim HJ; Cho HJ; Jin DK; Kwon EK; Ki CS; Kim JW; Kim SH
Clin Genet; 2004 Oct; 66(4):368-72. PubMed ID: 15355442
[No Abstract] [Full Text] [Related]
17. [Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].
Bai JL; Wang H; Yang YL; Song F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Dec; 27(6):664-7. PubMed ID: 21154328
[TBL] [Abstract][Full Text] [Related]
18. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
Camprubí C; Coll MD; Villatoro S; Gabau E; Kamli A; Martínez MJ; Poyatos D; Guitart M
Eur J Med Genet; 2007; 50(1):11-20. PubMed ID: 17095305
[TBL] [Abstract][Full Text] [Related]
19. Family studies in Prader-Willi syndrome.
Webb T; Hardy CA; Dahlitz M; Watkiss E; Clarke D
Genet Couns; 1994; 5(4):329-36. PubMed ID: 7888134
[TBL] [Abstract][Full Text] [Related]
20. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Robinson WP; Wagstaff J; Bernasconi F; Baccichetti C; Artifoni L; Franzoni E; Suslak L; Shih LY; Aviv H; Schinzel AA
J Med Genet; 1993 Sep; 30(9):756-60. PubMed ID: 8411071
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
