231 related articles for article (PubMed ID: 15979635)
1. Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.
Bellon-Harn ML
J Commun Disord; 2005; 38(6):459-72. PubMed ID: 15979635
[TBL] [Abstract][Full Text] [Related]
2. Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences.
Dimitropoulos A; Ferranti A; Lemler M
J Commun Disord; 2013; 46(2):193-201. PubMed ID: 23295077
[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. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
[TBL] [Abstract][Full Text] [Related]
5. Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader-Willi syndrome: an ERP study.
Stauder JE; Boer H; Gerits RH; Tummers A; Whittington J; Curfs LM
Clin Neurophysiol; 2005 Jun; 116(6):1464-70. PubMed ID: 15978509
[TBL] [Abstract][Full Text] [Related]
6. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
Varela MC; Kok F; Setian N; Kim CA; Koiffmann CP
Clin Genet; 2005 Jan; 67(1):47-52. PubMed ID: 15617548
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.
Murthy SK; al-Nassar KE; Verghese L
Nutrition; 1995; 11(5 Suppl):650-2. PubMed ID: 8748243
[TBL] [Abstract][Full Text] [Related]
9. [Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].
Tamminga S; Stalman SE; Kamp GA; Hendriks YM; Knegt AC; Elting MW
Ned Tijdschr Geneeskd; 2015; 159():A8240. PubMed ID: 25898865
[TBL] [Abstract][Full Text] [Related]
10. Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.
Veltman MW; Thompson RJ; Roberts SE; Thomas NS; Whittington J; Bolton PF
Eur Child Adolesc Psychiatry; 2004 Feb; 13(1):42-50. PubMed ID: 14991431
[TBL] [Abstract][Full Text] [Related]
11. Uniparental disomies 7 and 14.
Hoffmann K; Heller R
Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):77-100. PubMed ID: 21396576
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.
Atik T; Aykut A; Karaca E; Onay H; Ozkinay F; Cogulu O
Genet Couns; 2014; 25(4):433-7. PubMed ID: 25804024
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
Park JP; Moeschler JB; Hani VH; Hawk AB; Belloni DR; Noll WW; Mohandas TK
Am J Med Genet; 1998 Jun; 78(2):134-9. PubMed ID: 9674903
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Santoro SL; Hashimoto S; McKinney A; Mihalic Mosher T; Pyatt R; Reshmi SC; Astbury C; Hickey SE
Cytogenet Genome Res; 2017; 152(2):105-109. PubMed ID: 28746920
[TBL] [Abstract][Full Text] [Related]
19. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.
Boer H; Holland A; Whittington J; Butler J; Webb T; Clarke D
Lancet; 2002 Jan; 359(9301):135-6. PubMed ID: 11809260
[TBL] [Abstract][Full Text] [Related]
20. Prader-Willi syndrome in a child with XYY.
Honma A; Ishii R; Ito A; Kato M; Saitoh S; Hayasaka K
J Hum Genet; 1999; 44(6):412-3. PubMed ID: 10570915
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
