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Journal Abstract Search

133 related items for PubMed ID: 33059814

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  • 6. [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
    Pira-Paredes SM, Montoya-Villada JH, Franco-Restrepo JL, Moncada-Velez M, Cornejo JW.
    Rev Neurol; 2017 Jun 01; 64(11):481-488. PubMed ID: 28555453
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  • 7. 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 01; 57(4):245-253. PubMed ID: 31712251
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  • 8. A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.
    Yurttutan S, Oncel MY, Yurttutan N, Altug N, Erdeve O, Dilmen U.
    Genet Couns; 2012 Apr 01; 23(3):383-7. PubMed ID: 23072186
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  • 9. 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 01; 155A(6):1393-7. PubMed ID: 21567916
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  • 10. 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 01; 188(11):3324-3330. PubMed ID: 36073196
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  • 13. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
    Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W.
    Am J Med Genet; 1998 Jan 23; 75(3):300-3. PubMed ID: 9475602
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  • 14. 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. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
    Otsuji S, Nishio Y, Tsujita M, Rio M, Huber C, Antón-Plágaro C, Mizuno S, Kawano Y, Miyatake S, Simon M, van Binsbergen E, van Jaarsveld RH, Matsumoto N, Cormier-Daire V, J Cullen P, Saitoh S, Kato K.
    J Med Genet; 2023 Apr 01; 60(4):359-367. PubMed ID: 36113987
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  • 18. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
    Eur J Med Genet; 2015 Aug 01; 58(8):369-71. PubMed ID: 26096993
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  • 19. 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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