23856564 28631899 29730598 35887798 25064682 24916642 33329146 26203302 31991769 26444108 27777904 34374352 28592997 26475993 27854358 24656292 27288824 26184742 28682308 26535694 27537837 35956251 31131027 28494825 29150898 32316223 28346723 2898490 - Search Results

Year	Number of Results
2013	5
2014	6
2015	10
2016	13
2017	14
2018	6
2019	8
2020	5
2021	3
2022	5
2023	0

1

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J. Hickey SE, et al. Eur J Med Genet. 2013 Sep;56(9):510-4. doi: 10.1016/j.ejmg.2013.05.010. Epub 2013 Jul 13. Eur J Med Genet. 2013. PMID: 23856564

2

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics; White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Jehee FS, et al. Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631899 Free PMC article.

3

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. Butler MG, et al. J Med Genet. 2019 Mar;56(3):149-153. doi: 10.1136/jmedgenet-2018-105301. Epub 2018 May 5. J Med Genet. 2019. PMID: 29730598 Free PMC article.

4

Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.

Rosenberg AGW, Wellink CM, Tellez Garcia JM, Pellikaan K, Van Abswoude DH, Davidse K, Van Zutven LJCM, Brüggenwirth HT, Resnick JL, Van der Lely AJ, De Graaff LCG. Rosenberg AGW, et al. J Clin Med. 2022 Jul 12;11(14):4033. doi: 10.3390/jcm11144033. J Clin Med. 2022. PMID: 35887798 Free PMC article.

5

Eating behavior, prenatal and postnatal growth in Angelman syndrome.

Mertz LG, Christensen R, Vogel I, Hertz JM, Østergaard JR. Mertz LG, et al. Res Dev Disabil. 2014 Nov;35(11):2681-90. doi: 10.1016/j.ridd.2014.07.025. Epub 2014 Jul 26. Res Dev Disabil. 2014. PMID: 25064682

6

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas C, Cailley D, Rooryck C, Arveiler B, Cavaillé J, Salles JP, Tauber M. Bieth E, et al. Eur J Hum Genet. 2015 Feb;23(2):252-5. doi: 10.1038/ejhg.2014.103. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916642 Free PMC article.

7

Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome.

Kong X, Zhu J, Tian R, Liu S, Sherman HT, Zhang X, Lin X, Han Y, Xiang Z, Koh M, Hobbie C, Wang B, Liu K, Liu J, Yin Y, Wan G. Kong X, et al. Front Psychiatry. 2020 Nov 26;11:594934. doi: 10.3389/fpsyt.2020.594934. eCollection 2020. Front Psychiatry. 2020. PMID: 33329146 Free PMC article.

8

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Sheth F, Liehr T, Shah K, Sheth J. Sheth F, et al. Mol Cytogenet. 2015 Jul 22;8:52. doi: 10.1186/s13039-015-0163-2. eCollection 2015. Mol Cytogenet. 2015. PMID: 26203302 Free PMC article.

9

Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.

Tan Q, Potter KJ, Burnett LC, Orsso CE, Inman M, Ryman DC, Haqq AM. Tan Q, et al. Genes (Basel). 2020 Jan 25;11(2):128. doi: 10.3390/genes11020128. Genes (Basel). 2020. PMID: 31991769 Free PMC article.

10

Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology.

Yaron Y, Jani J, Schmid M, Oepkes D. Yaron Y, et al. Obstet Gynecol. 2015 Nov;126(5):1095-1099. doi: 10.1097/AOG.0000000000001091. Obstet Gynecol. 2015. PMID: 26444108

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