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 *

96 related articles for article (PubMed ID: 12357471)

  • 1. Polydactyly: how many disorders and how many genes?
    Biesecker LG
    Am J Med Genet; 2002 Oct; 112(3):279-83. PubMed ID: 12357471
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
    Schaefer E; Durand M; Stoetzel C; Doray B; Viville B; Hellé S; Danse JM; Hamel C; Bitoun P; Goldenberg A; Finck S; Faivre L; Sigaudy S; Holder M; Vincent MC; Marion V; Bonneau D; Verloes A; Nisand I; Mandel JL; Dollfus H
    Eur J Med Genet; 2011; 54(2):157-60. PubMed ID: 21044901
    [TBL] [Abstract][Full Text] [Related]  

  • 3. "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.
    Lurie IW; Wulfsberg EA
    Am J Med Genet; 1993 Sep; 47(3):405-9. PubMed ID: 8135289
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
    Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C
    Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Polydactyly: how many disorders and how many genes? 2010 update.
    Biesecker LG
    Dev Dyn; 2011 May; 240(5):931-42. PubMed ID: 21445961
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotypes and phenotypes of Joubert syndrome and related disorders.
    Valente EM; Brancati F; Dallapiccola B
    Eur J Med Genet; 2008; 51(1):1-23. PubMed ID: 18164675
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial patent ductus arteriosus: a further case of CHAR syndrome.
    Slavotinek A; Clayton-Smith J; Super M
    Am J Med Genet; 1997 Aug; 71(2):229-32. PubMed ID: 9217229
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes.
    Verloes A
    Am J Med Genet; 1995 Feb; 55(4):433-43. PubMed ID: 7762583
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
    Liang Y; Shen D; Cai W
    J Pediatr Surg; 2008 Feb; 43(2):391-3. PubMed ID: 18280297
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Holt-Oram syndrome with associated postaxial and central polydactyly. Further evidence for genetic heterogeneity in the Holt-Oram syndrome.
    Fryns JP; Bonnet D; De Smet L
    Genet Couns; 1996; 7(4):323-4. PubMed ID: 8985738
    [No Abstract]   [Full Text] [Related]  

  • 11. Polydactyly with ectodermal defect, osteopenia, and mental delay.
    Zannolli R; Buoni S; Viviano M; Macucci F; D'Ambrosio A; Livi W; Mazzei MA; Mazzei F; Sacco P; Volterrani L; Vonella G; Orsi A; Zappella M; Hayek J
    J Child Neurol; 2008 Jun; 23(6):683-9. PubMed ID: 18182642
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Positional cloning of anomaly-syndrome-causing genes].
    Niikawa N
    Tanpakushitsu Kakusan Koso; 2001 Dec; 46(16 Suppl):2313-8. PubMed ID: 11802385
    [No Abstract]   [Full Text] [Related]  

  • 13. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
    Fujioka H; Ariga T; Horiuchi K; Otsu M; Igawa H; Kawashima K; Yamamoto Y; Sugihara T; Sakiyama Y
    Clin Genet; 2005 May; 67(5):429-33. PubMed ID: 15811011
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The molecular basis of Pallister Hall associated polydactyly.
    Hill P; Wang B; Rüther U
    Hum Mol Genet; 2007 Sep; 16(17):2089-96. PubMed ID: 17588959
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities.
    Lettice LA; Hill RE
    Curr Opin Genet Dev; 2005 Jun; 15(3):294-300. PubMed ID: 15917205
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
    Amador C; Mathews AM; Del Carmen Montoya M; Laughridge ME; Everman DB; Holden KR
    J Child Neurol; 2008 Aug; 23(8):901-5. PubMed ID: 18660473
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Greig cephalopolysyndactyly syndrome in a family.
    Wang CH; Tsai FJ; Shi YR
    Acta Paediatr Taiwan; 2006; 47(2):95-9. PubMed ID: 16927636
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.
    Mehrotra N; Taub S; Covert RF
    Am J Med Genet; 1997 Mar; 69(2):220. PubMed ID: 9056566
    [No Abstract]   [Full Text] [Related]  

  • 19. Dominant polydactyly-luxate syndrome (DPLS) -- a new mutant of the Norway rat.
    Bílá V; Kren V
    Folia Biol (Praha); 1978; 24(6):369-70. PubMed ID: 729858
    [No Abstract]   [Full Text] [Related]  

  • 20. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
    Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A
    Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.