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Journal Abstract Search

1138 related items for PubMed ID: 11484200

  • 1. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML, Pai GS, Wilkes B, Lebel RR.
    Am J Med Genet; 2001 Aug 15; 102(3):237-42. PubMed ID: 11484200
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
    Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P.
    Am J Med Genet; 1987 Feb 01; 26(2):481-91. PubMed ID: 3812597
    [Abstract] [Full Text] [Related]

  • 4. [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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. [Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case].
    Nakayama M, Kado M, Ishikawa H, Kondou H.
    Kyobu Geka; 2010 May 11; 63(5):407-9. PubMed ID: 20446611
    [Abstract] [Full Text] [Related]

  • 7. 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 May 11; 23(3):383-7. PubMed ID: 23072186
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?
    Mégarbané A, Haddad J.
    Clin Dysmorphol; 1999 Oct 23; 8(4):305-7. PubMed ID: 10532184
    [Abstract] [Full Text] [Related]

  • 10. Ritscher-Schinzel cranio-cerebello-cardiac syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2008 Oct 23; 28(10):715-8. PubMed ID: 18825150
    [No Abstract] [Full Text] [Related]

  • 11. 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 23; 155A(6):1393-7. PubMed ID: 21567916
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 3C syndrome with cryptorchidism and posterior embryotoxon.
    Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Petersen MB.
    Clin Dysmorphol; 2005 Apr 05; 14(2):97-100. PubMed ID: 15770133
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 35(3):205-8. PubMed ID: 2650935
    [Abstract] [Full Text] [Related]

  • 15. 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 05; 57(4):245-253. PubMed ID: 31712251
    [Abstract] [Full Text] [Related]

  • 16. "Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.
    Lurie IW, Ferencz C.
    Am J Med Genet; 1996 Dec 02; 66(1):72-4. PubMed ID: 8957516
    [Abstract] [Full Text] [Related]

  • 17. Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
    Marles SL, Chodirker BN, Greenberg CR, Chudley AE.
    Am J Med Genet; 1995 May 08; 56(4):343-50. PubMed ID: 7604842
    [Abstract] [Full Text] [Related]

  • 18. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.
    Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP.
    Genet Couns; 2000 May 08; 11(2):111-8. PubMed ID: 10893662
    [Abstract] [Full Text] [Related]

  • 19. 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 08; 64(7):104246. PubMed ID: 34020006
    [Abstract] [Full Text] [Related]

  • 20. Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies.
    Güçer S, Ince T, Kale G, Akçören Z, Ozkutlu S, Talim B, Cağlar M.
    Turk J Pediatr; 2005 Jul 08; 47(2):159-66. PubMed ID: 16052857
    [Abstract] [Full Text] [Related]

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