PubMed for id: 324693

Year	Number of Results
1983	1
1988	1
1992	2
1993	2
1997	1
1999	1
2000	1
2001	1
2002	1
2003	1
2004	1
2005	2
2006	3
2007	2
2008	2
2009	2
2010	3
2011	2
2012	2
2013	1
2014	3
2015	5
2016	4
2018	5
2019	7
2021	1
2022	7
2023	1
2024	0

1

Autonomic nervous system dysfunction in Prader-Willi syndrome.

Butler MG, Victor AK, Reiter LT. Butler MG, et al. Clin Auton Res. 2023 Jun;33(3):281-286. doi: 10.1007/s10286-022-00909-7. Epub 2022 Dec 14. Clin Auton Res. 2023. PMID: 36515769 Review.

2

A nationwide survey of Schaaf-Yang syndrome in Japan.

Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. Negishi Y, et al. J Hum Genet. 2022 Dec;67(12):735-738. doi: 10.1038/s10038-022-01089-y. Epub 2022 Oct 12. J Hum Genet. 2022. PMID: 36220858

3

Optic neuritis in CD59 deficiency: an extremely rare presentation.

Günay Ç, Yardım E, Yaşar E, Hız-Kurul AS, Uzan GS, Öztürk T, Yaman A, Yiş U. Günay Ç, et al. Turk J Pediatr. 2022;64(4):787-794. doi: 10.24953/turkjped.2021.1405. Turk J Pediatr. 2022. PMID: 36082655 Free article.

4

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. Yang-Li D, et al. Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Orphanet J Rare Dis. 2022. PMID: 35698200 Free PMC article. Review.

5

Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.

Basak S, Basak A. Basak S, et al. Biosci Rep. 2022 Jun 30;42(6):BSR20220610. doi: 10.1042/BSR20220610. Biosci Rep. 2022. PMID: 35621394 Free PMC article. Review.

6

Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, Sud S, Verma IC, Dua Puri R. Mishra R, et al. Am J Med Genet A. 2022 Aug;188(8):2339-2350. doi: 10.1002/ajmg.a.62768. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35499143

7

Case Report: Hepatic Adenomatosis in a Patient With Prader-Willi Syndrome.

Dauleh H, Soliman A, Haris B, Khalifa A, Al Khori N, Hussain K. Dauleh H, et al. Front Endocrinol (Lausanne). 2022 Mar 9;13:826772. doi: 10.3389/fendo.2022.826772. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35355562 Free PMC article.

8

[Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease].

Li S, Sun G, Zhao G, Kong X. Li S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):366-368. doi: 10.3760/cma.j.cn511374-20200307-00142. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33834467 Chinese.

9

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S. Negishi Y, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):277. doi: 10.1186/s13023-019-1249-4. Orphanet J Rare Dis. 2019. PMID: 31791363 Free PMC article.

10

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Mahjoub G, Habibzadeh P, Dastsooz H, Mirzaei M, Kavosi A, Jamali L, Javanmardi H, Katibeh P, Faghihi MA, Dastgheib SA. Mahjoub G, et al. BMC Med Genet. 2019 Oct 29;20(1):167. doi: 10.1186/s12881-019-0893-9. BMC Med Genet. 2019. PMID: 31664948 Free PMC article.

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