128 related articles for article (PubMed ID: 38548315)
1. Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
Centeno-Pla M; Alcaide-Consuegra E; Gibson S; Prat-Planas A; Gutiérrez-Ávila JD; Grinberg D; Urreizti R; Rabionet R; Balcells S
J Med Genet; 2024 Mar; ():. PubMed ID: 38548315
[TBL] [Abstract][Full Text] [Related]
2. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L; Centeno-Pla M; Serrano M; Franco-Valls H; Martínez-Cabrera R; Prat-Planas A; Rojano E; Ranea JAG; Seoane P; Oliva C; Paredes-Fuentes AJ; Marfany G; Artuch R; Grinberg D; Rabionet R; Balcells S; Urreizti R
J Med Genet; 2023 Apr; 60(4):406-415. PubMed ID: 36243518
[TBL] [Abstract][Full Text] [Related]
3. Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Ieda D; Negishi Y; Miyamoto T; Johmura Y; Kumamoto N; Kato K; Miyoshi I; Nakanishi M; Ugawa S; Oishi H; Saitoh S
PLoS One; 2020; 15(8):e0237814. PubMed ID: 32804975
[TBL] [Abstract][Full Text] [Related]
4. Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D; Vorleuter A; Eschlböck A; Spathopoulou A; Suarez-Cubero M; Farhan H; Reiterer V; Spanjaard M; Schaaf CP; Huber LA; Kremser L; Sarg B; Edenhofer F; Geley S; de Araujo MEG; Huettenhofer A
Am J Hum Genet; 2024 Jun; ():. PubMed ID: 38908375
[TBL] [Abstract][Full Text] [Related]
5. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
Enya T; Okamoto N; Iba Y; Miyazawa T; Okada M; Ida S; Naruto T; Imoto I; Fujita A; Miyake N; Matsumoto N; Sugimoto K; Takemura T
Am J Med Genet A; 2018 Mar; 176(3):707-711. PubMed ID: 29359444
[TBL] [Abstract][Full Text] [Related]
6. The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.
Sanderson MR; Fahlman RP; Wevrick R
J Biol Chem; 2021 Aug; 297(2):100959. PubMed ID: 34265304
[TBL] [Abstract][Full Text] [Related]
7. A Novel Mutation of
D Hidalgo-Santos A; Del Carmen DeMingo-Alemany M; Moreno-Macián F; Roselló M; Orellana C; Martínez F; Caro-Llopis A; León-Cariñena S; Tomás-Vila M
Int J Endocrinol Metab; 2018 Jul; 16(3):e67329. PubMed ID: 30323850
[TBL] [Abstract][Full Text] [Related]
8. Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).
Mizuno S; Yokoyama K; Yokoyama A; Nukata T; Ikeda Y; Hara S
Mol Genet Genomic Med; 2022 Jun; 10(6):e1932. PubMed ID: 35343647
[TBL] [Abstract][Full Text] [Related]
9. The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
Kleinendorst L; Pi Castán G; Caro-Llopis A; Boon EMJ; van Haelst MM
Am J Med Genet A; 2018 Nov; 176(11):2456-2459. PubMed ID: 30238631
[TBL] [Abstract][Full Text] [Related]
10. MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
Schubert T; Schaaf CP
Dev Med Child Neurol; 2024 Jul; ():. PubMed ID: 38950199
[TBL] [Abstract][Full Text] [Related]
11. Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.
Huang Z; Lu W; Zhang P; Lu Y; Chen L; Kang W; Yang L; Li G; Zhu J; Wu B; Zhou W; Wang H
Ann Transl Med; 2023 Jun; 11(9):312. PubMed ID: 37404980
[TBL] [Abstract][Full Text] [Related]
12. 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
Orphanet J Rare Dis; 2019 Dec; 14(1):277. PubMed ID: 31791363
[TBL] [Abstract][Full Text] [Related]
13. Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D; Nolent F; Maluenda J; Ranjatoelina-Randrianaivo H; Giuliano F; Gut I; Sternberg D; Laquerrière A; Melki J
Am J Hum Genet; 2015 Oct; 97(4):616-20. PubMed ID: 26365340
[TBL] [Abstract][Full Text] [Related]
14. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the
Fountain MD; Schaaf CP
Diseases; 2016 Jan; 4(1):. PubMed ID: 28933382
[TBL] [Abstract][Full Text] [Related]
15. MAGEL2-related disorders: A study and case series.
Patak J; Gilfert J; Byler M; Neerukonda V; Thiffault I; Cross L; Amudhavalli S; Pacio-Miguez M; Palomares-Bralo M; Garcia-Minaur S; Santos-Simarro F; Powis Z; Alcaraz W; Tang S; Jurgens J; Barry B; England E; Engle E; Hess J; Lebel RR
Clin Genet; 2019 Dec; 96(6):493-505. PubMed ID: 31397880
[TBL] [Abstract][Full Text] [Related]
16. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of
Jobling R; Stavropoulos DJ; Marshall CR; Cytrynbaum C; Axford MM; Londero V; Moalem S; Orr J; Rossignol F; Lopes FD; Gauthier J; Alos N; Rupps R; McKinnon M; Adam S; Nowaczyk MJM; Walker S; Scherer SW; Nassif C; Hamdan FF; Deal CL; Soucy JF; Weksberg R; Macleod P; Michaud JL; Chitayat D
J Med Genet; 2018 May; 55(5):316-321. PubMed ID: 29599419
[TBL] [Abstract][Full Text] [Related]
17. Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J; Lupo PJ; Kovar E; Rech M; Bostwick B; Scott D; Kraft K; Roscioli T; Charrow J; Schrier Vergano SA; Lose E; Smiegel R; Lacassie Y; Schaaf CP
Am J Med Genet A; 2018 Dec; 176(12):2564-2574. PubMed ID: 30302899
[TBL] [Abstract][Full Text] [Related]
18. [Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].
Gong J; Jiang Z; Hu W; Liao H; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1284-1287. PubMed ID: 37730232
[TBL] [Abstract][Full Text] [Related]
19. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD; Aten E; Cho MT; Juusola J; Walkiewicz MA; Ray JW; Xia F; Yang Y; Graham BH; Bacino CA; Potocki L; van Haeringen A; Ruivenkamp CA; Mancias P; Northrup H; Kukolich MK; Weiss MM; van Ravenswaaij-Arts CM; Mathijssen IB; Levesque S; Meeks N; Rosenfeld JA; Lemke D; Hamosh A; Lewis SK; Race S; Stewart LL; Hay B; Lewis AM; Guerreiro RL; Bras JT; Martins MP; Derksen-Lubsen G; Peeters E; Stumpel C; Stegmann S; Bok LA; Santen GW; Schaaf CP
Genet Med; 2017 Jan; 19(1):45-52. PubMed ID: 27195816
[TBL] [Abstract][Full Text] [Related]
20. Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Reznik DL; Yang MV; Albelda de la Haza P; Jain A; Spanjaard M; Theiss S; Schaaf CP; Malovannaya A; Strong TV; Veeraragavan S; Samaco RC
Dis Model Mech; 2023 Feb; 16(2):. PubMed ID: 36637363
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]