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Page 1
Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.
van Bosse HJP, Butler MG. van Bosse HJP, et al. Genes (Basel). 2020 Feb 28;11(3):260. doi: 10.3390/genes11030260. Genes (Basel). 2020. PMID: 32121146 Free PMC article. Review.
Prader-Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. ...As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors …
Prader-Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo …
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C. Mao S, et al. Clin Genet. 2024 Apr;105(4):415-422. doi: 10.1111/cge.14477. Epub 2024 Jan 23. Clin Genet. 2024. PMID: 38258470
All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth and development abnormalities, and other clinical …
All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information inc …
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L. Liang B, et al. J Hum Genet. 2022 Nov;67(11):629-638. doi: 10.1038/s10038-022-01062-9. Epub 2022 Jul 27. J Hum Genet. 2022. PMID: 35896820 Review.
We observed clinically relevant UPDs in two cases related to Prader-Willi syndrome and transient neonatal diabetes mellitus. Of note, one case showed 50% mosaicism for trisomy 2 in amniotic fluid, whereas a complete UPD (2) was observed in umbilical cord bloo …
We observed clinically relevant UPDs in two cases related to Prader-Willi syndrome and transient neonatal diabetes mell …
Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.
Juriaans AF, Kerkhof GF, Garrelfs M, Trueba-Timmermans D, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2024;97(2):148-156. doi: 10.1159/000531629. Epub 2023 Jun 21. Horm Res Paediatr. 2024. PMID: 37343528 Free article.
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 gene, located in the Prader-Willi syndrome (PWS) region. ...
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 ge …
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. Santoro SL, et al. Cytogenet Genome Res. 2017;152(2):105-109. doi: 10.1159/000478921. Epub 2017 Jul 27. Cytogenet Genome Res. 2017. PMID: 28746920
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. ...Additional assessment of 5,000 clinical microarrays, performed from 20 …
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disor …
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. Lin HY, et al. Acta Paediatr. 2007 Jun;96(6):902-5. doi: 10.1111/j.1651-2227.2007.00284.x. Acta Paediatr. 2007. PMID: 17537021
AIM: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). METHODS: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 th …
AIM: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi …
The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2023;96(5):483-494. doi: 10.1159/000530420. Epub 2023 Mar 28. Horm Res Paediatr. 2023. PMID: 36977395
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14, paternal deletion of 14q32.2, or an isolated methylation defect. ...
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14, pat …
Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype.
Vendrame M, Maski KP, Chatterjee M, Heshmati A, Krishnamoorthy K, Tan WH, Kothare SV. Vendrame M, et al. Epilepsy Behav. 2010 Nov;19(3):306-10. doi: 10.1016/j.yebeh.2010.07.007. Epub 2010 Aug 21. Epilepsy Behav. 2010. PMID: 20727826
Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilep …
Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy …
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson ME, Lich C, Horsthemke B. Buiting K, et al. Clin Genet. 2000 Oct;58(4):284-90. doi: 10.1034/j.1399-0004.2000.580406.x. Clin Genet. 2000. PMID: 11076053
Prader-Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on chromosome 15. ...Here, we report the clinical and molecular findings in two families with a microdeletion affecting the chromosome 15 imprinting centr …
Prader-Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on chromosome 15. ... …
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
Chotai KA, Payne SJ. Chotai KA, et al. J Med Genet. 1998 Jun;35(6):472-5. doi: 10.1136/jmg.35.6.472. J Med Genet. 1998. PMID: 9643288 Free PMC article.
Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11-13, uniparental disomy for chromosomes 15 (UPD15), or mutations affecting gene expression in this regi …
Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a com …
17 results