These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 28296079)

  • 1. Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.
    Fountain MD; Tao H; Chen CA; Yin J; Schaaf CP
    Genes Brain Behav; 2017 Jul; 16(6):592-600. PubMed ID: 28296079
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.
    Crutcher E; Pal R; Naini F; Zhang P; Laugsch M; Kim J; Bajic A; Schaaf CP
    Sci Rep; 2019 Nov; 9(1):15935. PubMed ID: 31685878
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The adult phenotype of Schaaf-Yang syndrome.
    Marbach F; Elgizouli M; Rech M; Beygo J; Erger F; Velmans C; Stumpel CTRM; Stegmann APA; Beck-Wödl S; Gillessen-Kaesbach G; Horsthemke B; Schaaf CP; Kuechler A
    Orphanet J Rare Dis; 2020 Oct; 15(1):294. PubMed ID: 33076953
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
    Schaaf CP; Gonzalez-Garay ML; Xia F; Potocki L; Gripp KW; Zhang B; Peters BA; McElwain MA; Drmanac R; Beaudet AL; Caskey CT; Yang Y
    Nat Genet; 2013 Nov; 45(11):1405-8. PubMed ID: 24076603
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
    Bischof JM; Stewart CL; Wevrick R
    Hum Mol Genet; 2007 Nov; 16(22):2713-9. PubMed ID: 17728320
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism.
    Meziane H; Schaller F; Bauer S; Villard C; Matarazzo V; Riet F; Guillon G; Lafitte D; Desarmenien MG; Tauber M; Muscatelli F
    Biol Psychiatry; 2015 Jul; 78(2):85-94. PubMed ID: 25599930
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.
    Kamaludin AA; Smolarchuk C; Bischof JM; Eggert R; Greer JJ; Ren J; Lee JJ; Yokota T; Berry FB; Wevrick R
    Hum Mol Genet; 2016 Sep; 25(17):3798-3809. PubMed ID: 27436578
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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 Jul; 111(7):1383-1404. PubMed ID: 38908375
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
    Baraghithy S; Smoum R; Drori A; Hadar R; Gammal A; Hirsch S; Attar-Namdar M; Nemirovski A; Gabet Y; Langer Y; Pollak Y; Schaaf CP; Rech ME; Gross-Tsur V; Bab I; Mechoulam R; Tam J
    J Bone Miner Res; 2019 Jan; 34(1):93-105. PubMed ID: 30347474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.
    Alavanda C; Arslan Ateş E; Yavaş Abalı Z; Geçkinli BB; Turan S; Arman A
    Clin Genet; 2023 Jul; 104(1):127-132. PubMed ID: 36843439
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
    McCarthy JM; McCann-Crosby BM; Rech ME; Yin J; Chen CA; Ali MA; Nguyen HN; Miller JL; Schaaf CP
    J Med Genet; 2018 May; 55(5):307-315. PubMed ID: 29496979
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
    Boccaccio I; Glatt-Deeley H; Watrin F; Roëckel N; Lalande M; Muscatelli F
    Hum Mol Genet; 1999 Dec; 8(13):2497-505. PubMed ID: 10556298
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
    Lee S; Kozlov S; Hernandez L; Chamberlain SJ; Brannan CI; Stewart CL; Wevrick R
    Hum Mol Genet; 2000 Jul; 9(12):1813-9. PubMed ID: 10915770
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The imprinted gene Magel2 regulates normal circadian output.
    Kozlov SV; Bogenpohl JW; Howell MP; Wevrick R; Panda S; Hogenesch JB; Muglia LJ; Van Gelder RN; Herzog ED; Stewart CL
    Nat Genet; 2007 Oct; 39(10):1266-72. PubMed ID: 17893678
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.