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 *

143 related articles for article (PubMed ID: 21567916)

  • 1. 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; 155A(6):1393-7. PubMed ID: 21567916
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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; 64(11):481-488. PubMed ID: 28555453
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 23(3):383-7. PubMed ID: 23072186
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 102(3):237-42. PubMed ID: 11484200
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
    Orstavik KH; Bechensteen AG; Fugelseth D; Orderud W
    Am J Med Genet; 1998 Jan; 75(3):300-3. PubMed ID: 9475602
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
    Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.
    Wheeler PG; Sadeghi-Nejad A; Elias ER
    Am J Med Genet; 1999 Nov; 87(1):61-4. PubMed ID: 10528249
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 64(7):104246. PubMed ID: 34020006
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 3C syndrome with cryptorchidism and posterior embryotoxon.
    Papadopoulou E; Sifakis S; Rogalidou M; Makrigiannakis A; Giannakopoulou C; Petersen MB
    Clin Dysmorphol; 2005 Apr; 14(2):97-100. PubMed ID: 15770133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 134A(1):3-11. PubMed ID: 15704124
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
    Kosaki K; Curry CJ; Roeder E; Jones KL
    Am J Med Genet; 1997 Feb; 68(4):421-7. PubMed ID: 9021015
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome.
    Al-Achkar W; Wafa A; Jarjour RA
    Am J Med Genet A; 2011 Mar; 155A(3):648-51. PubMed ID: 21337688
    [No Abstract]   [Full Text] [Related]  

  • 14. [Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].
    Liang YT; Jiang HY; Fu HY
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 Oct; 22(10):1135-1137. PubMed ID: 33059814
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 50(12):819-22. PubMed ID: 24065355
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe feeding difficulties in 3C syndrome.
    Iyer P; Smith R
    Clin Dysmorphol; 2005 Apr; 14(2):101-103. PubMed ID: 15770134
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
    Neri S; Maia N; Fortuna AM; Damasio J; Coale E; Willis M; Jorge P; Højte AF; Fenger CD; Møller RS; Bayat A
    Eur J Med Genet; 2022 Nov; 65(11):104624. PubMed ID: 36130690
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
    Konya MN; Elmas M; Erginoğlu SE; Yeşil M
    Int J Surg Case Rep; 2015; 7C():130-3. PubMed ID: 25434475
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.