228 related articles for article (PubMed ID: 29159982)
1. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
Lande A; Kroken M; Rabben K; Retterstøl L
Am J Med Genet A; 2018 Jan; 176(1):175-180. PubMed ID: 29159982
[TBL] [Abstract][Full Text] [Related]
2. Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Hara-Isono K; Matsubara K; Fuke T; Yamazawa K; Satou K; Murakami N; Saitoh S; Nakabayashi K; Hata K; Ogata T; Fukami M; Kagami M
Clin Epigenetics; 2020 Oct; 12(1):159. PubMed ID: 33092629
[TBL] [Abstract][Full Text] [Related]
3. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.
Juriaans AF; Kerkhof GF; Mahabier EF; Sas TCJ; Zwaveling-Soonawala N; Touwslager RNH; Rotteveel J; Hokken-Koelega ACS
J Clin Med; 2022 Oct; 11(21):. PubMed ID: 36362517
[TBL] [Abstract][Full Text] [Related]
4. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Kagami M; Nagasaki K; Kosaki R; Horikawa R; Naiki Y; Saitoh S; Tajima T; Yorifuji T; Numakura C; Mizuno S; Nakamura A; Matsubara K; Fukami M; Ogata T
Genet Med; 2017 Dec; 19(12):1356-1366. PubMed ID: 28640239
[TBL] [Abstract][Full Text] [Related]
5. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
Gunay-Aygun M; Schwartz S; Heeger S; O'Riordan MA; Cassidy SB
Pediatrics; 2001 Nov; 108(5):E92. PubMed ID: 11694676
[TBL] [Abstract][Full Text] [Related]
6. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
Kagami M; Yanagisawa A; Ota M; Matsuoka K; Nakamura A; Matsubara K; Nakabayashi K; Takada S; Fukami M; Ogata T
Clin Epigenetics; 2019 Mar; 11(1):42. PubMed ID: 30846001
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.
Hosoki K; Kagami M; Tanaka T; Kubota M; Kurosawa K; Kato M; Uetake K; Tohyama J; Ogata T; Saitoh S
J Pediatr; 2009 Dec; 155(6):900-903.e1. PubMed ID: 19800077
[TBL] [Abstract][Full Text] [Related]
9. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
Shao H; Lip V; Wu BL
Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):64-7. PubMed ID: 15719045
[TBL] [Abstract][Full Text] [Related]
10. Report of a patient with Temple-Baraitser syndrome.
Yesil G; Guler S; Yuksel A; Alanay Y
Am J Med Genet A; 2014 Mar; 164A(3):848-51. PubMed ID: 24357613
[No Abstract] [Full Text] [Related]
11. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
Morandi A; Bonnefond A; Lobbens S; Carotenuto M; Del Giudice EM; Froguel P; Maffeis C
Am J Med Genet A; 2015 Nov; 167A(11):2720-6. PubMed ID: 26109092
[TBL] [Abstract][Full Text] [Related]
12. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
Procter M; Chou LS; Tang W; Jama M; Mao R
Clin Chem; 2006 Jul; 52(7):1276-83. PubMed ID: 16690734
[TBL] [Abstract][Full Text] [Related]
13. The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF; Kerkhof GF; Hokken-Koelega ACS
Endocr Rev; 2022 Jan; 43(1):1-18. PubMed ID: 34460908
[TBL] [Abstract][Full Text] [Related]
14. Molecular diagnosis of Prader-Willi syndrome.
Pangkanon S
J Med Assoc Thai; 2003 Aug; 86 Suppl 3():S510-6. PubMed ID: 14700141
[TBL] [Abstract][Full Text] [Related]
15. Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome.
Cox H; Bullman H; Temple IK
Am J Med Genet A; 2004 May; 127A(1):21-25. PubMed ID: 15103712
[TBL] [Abstract][Full Text] [Related]
16. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Prasasya R; Grotheer KV; Siracusa LD; Bartolomei MS
Hum Mol Genet; 2020 Sep; 29(R1):R107-R116. PubMed ID: 32592473
[TBL] [Abstract][Full Text] [Related]
17. Prevalence of Prader-Willi syndrome among infants with hypotonia.
Tuysuz B; Kartal N; Erener-Ercan T; Guclu-Geyik F; Vural M; Perk Y; Erçal D; Erginel-Unaltuna N
J Pediatr; 2014 May; 164(5):1064-7. PubMed ID: 24582009
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.
Rocha CF; Paiva CL
Genet Mol Res; 2014 Mar; 13(1):2290-8. PubMed ID: 24737477
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
