170 related articles for article (PubMed ID: 31270759)
1. Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Ge MM; Gao YY; Wu BB; Yan K; Qin Q; Wang H; Zhou W; Yang L
Mol Biol Rep; 2019 Oct; 46(5):4717-4724. PubMed ID: 31270759
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.
Lin HY; Lin SP; Chuang CK; Chen MR; Yen JL; Lee YJ; Huang CY; Tsai LP; Niu DM; Chao MC; Kuo PL
Acta Paediatr; 2007 Jun; 96(6):902-5. PubMed ID: 17537021
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S; Yang L; Gao Y; Zou C
Clin Genet; 2024 Apr; 105(4):415-422. PubMed ID: 38258470
[TBL] [Abstract][Full Text] [Related]
5. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
Gold JA; Mahmoud R; Cassidy SB; Kimonis V
Am J Med Genet A; 2018 May; 176(5):1161-1165. PubMed ID: 29681103
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetic diagnostics of Prader-Willi Syndrome: a validation of linkage analysis for the Chinese population.
Li H; Meng S; Chen Z; Li H; Du M; Ma H; Wei H; Duan H; Zheng H; Wenren Q; Song X
J Genet Genomics; 2007 Oct; 34(10):885-91. PubMed ID: 17945167
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.
Zhang L; Liu X; Zhao Y; Wang Q; Zhang Y; Gao H; Zhang B; Cui W; Zhao Y
Ital J Pediatr; 2022 Jul; 48(1):121. PubMed ID: 35870983
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic features of Prader-Willi syndrome in China.
Lu W; Qi Y; Cui B; Chen XL; Wu BB; Chen C; Cao Y; Zhou WH; Xu H; Luo FH
Eur J Pediatr; 2014 Jan; 173(1):81-6. PubMed ID: 23933672
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
Yang L; Zhou Q; Ma B; Mao S; Dai Y; Zhu M; Zou C
Orphanet J Rare Dis; 2020 Jan; 15(1):24. PubMed ID: 31964399
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. Neonatal presentation of Prader Willi sindrome. Personal records.
Maggio MC; Corsello M; Piccione M; Piro E; Giuffrè M; Liotta A
Minerva Pediatr; 2007 Dec; 59(6):817-23. PubMed ID: 17978792
[TBL] [Abstract][Full Text] [Related]
16. Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.
Promkan M; Teingtat S; Stheinkijkarnchai A; Wasant P; Patmasiriwat P
Clin Chem Lab Med; 2007; 45(8):972-80. PubMed ID: 17867985
[TBL] [Abstract][Full Text] [Related]
17. The neuroanatomy of genetic subtype differences in Prader-Willi syndrome.
Honea RA; Holsen LM; Lepping RJ; Perea R; Butler MG; Brooks WM; Savage CR
Am J Med Genet B Neuropsychiatr Genet; 2012 Mar; 159B(2):243-53. PubMed ID: 22241551
[TBL] [Abstract][Full Text] [Related]
18. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.
Borelina D; Engel N; Esperante S; Ferreiro V; Ferrer M; Torrado M; Goldschmidt E; Francipane L; Szijan I
J Biochem Mol Biol; 2004 Sep; 37(5):522-6. PubMed ID: 15479613
[TBL] [Abstract][Full Text] [Related]
19. [Prader Willi syndrome patients: study of 77 patients].
Poyatos D; Camprubí C; Gabau E; Nosas R; Villatoro S; Coll MD; Guitart M
Med Clin (Barc); 2009 Nov; 133(17):649-56. PubMed ID: 19748638
[TBL] [Abstract][Full Text] [Related]
20. [Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
Rios-Flores IM; Bobadilla-Morales L; Peña Padilla C; Corona-Rivera A; Acosta-Fernández E; Santana-Hernández J; Brukman-Jiménez SA; Corona Rivera JR
Rev Med Inst Mex Seguro Soc; 2021 Jun; 59(2):170-178. PubMed ID: 34232598
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
