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Journal Abstract Search

145 related items for PubMed ID: 10528249

  • 1. 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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  • 4. 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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  • 5. 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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  • 6. 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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  • 8. 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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  • 10. 3C syndrome with cryptorchidism and posterior embryotoxon.
    Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Petersen MB.
    Clin Dysmorphol; 2005 Apr 23; 14(2):97-100. PubMed ID: 15770133
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  • 11. 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 23; 23(3):383-7. PubMed ID: 23072186
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  • 12. Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.
    Micheil Innes A.
    Clin Dysmorphol; 2005 Oct 23; 14(4):209-210. PubMed ID: 16155425
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  • 13. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).
    Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F.
    Clin Genet; 1989 Mar 23; 35(3):205-8. PubMed ID: 2650935
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  • 15. Infantile glaucoma associated with cranio-cerebello-cardiac syndrome.
    Gupta G, Walton DS.
    J Pediatr Ophthalmol Strabismus; 2006 Mar 23; 43(4):244-5. PubMed ID: 16915906
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  • 16. Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
    Gjerulfsen CE, Møller RS, Fenger CD, Hammer TB, Bayat A.
    Eur J Med Genet; 2021 Jul 23; 64(7):104246. PubMed ID: 34020006
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  • 17. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
    Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P.
    Am J Med Genet; 2000 Oct 23; 94(5):405-8. PubMed ID: 11050627
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  • 19. An additional patient with the 3C syndrome.
    Gurrieri F, Neri G.
    Clin Genet; 1992 May 23; 41(5):263-5. PubMed ID: 1606716
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  • 20. Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.
    Zankl A, Güngör T, Schinzel A.
    Am J Med Genet A; 2003 Apr 01; 118A(1):55-9. PubMed ID: 12605442
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