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Journal Abstract Search

127 related items for PubMed ID: 36073196

  • 1. Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
    Rodgers J, Richmond CM, McGaughran J.
    Am J Med Genet A; 2022 Nov; 188(11):3324-3330. PubMed ID: 36073196
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  • 6. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
    Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
    J Med Genet; 2020 Apr; 57(4):245-253. PubMed ID: 31712251
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  • 10. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
    Kosaki K, Curry CJ, Roeder E, Jones KL.
    Am J Med Genet; 1997 Feb 11; 68(4):421-7. PubMed ID: 9021015
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  • 12. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.
    Seidahmed MZ, Alkuraya FS, Shaheed M, Al Zahrani M, Al Manea W, Mansour F, Mustafa T, Farid G, Salih MA.
    Am J Med Genet A; 2011 Jun 11; 155A(6):1393-7. PubMed ID: 21567916
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  • 15. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
    Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.
    Am J Med Genet A; 2005 Apr 01; 134A(1):3-11. PubMed ID: 15704124
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  • 16. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
    Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T.
    J Med Genet; 2013 Dec 01; 50(12):819-22. PubMed ID: 24065355
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  • 17. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.
    Wheeler PG, Sadeghi-Nejad A, Elias ER.
    Am J Med Genet; 1999 Nov 05; 87(1):61-4. PubMed ID: 10528249
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  • 18. Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.
    Rusnak AJ, Hadfield MI, Chudley AE, Marles SL, Reid GJ, Chodirker BN.
    Fetal Diagn Ther; 2008 Nov 05; 24(4):395-9. PubMed ID: 18957854
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  • 19. Ritscher-Schinzel cranio-cerebello-cardiac syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2008 Oct 05; 28(10):715-8. PubMed ID: 18825150
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