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 *

185 related articles for article (PubMed ID: 12676910)

  • 1. Studies on the pathogenesis of Costello syndrome.
    Mancini GM; van Diggelen OP; Kleijer WJ; Di Rocco M; Farina V; Yuksel-Apak M; Kayserili H; Halley DJ
    J Med Genet; 2003 Apr; 40(4):e37. PubMed ID: 12676910
    [No Abstract]   [Full Text] [Related]  

  • 2. Exclusion of the elastin gene in the pathogenesis of Costello syndrome.
    Tandoi C; Botta A; Fini G; Sangiuolo F; Novelli G; Ricci R; Zampino G; Anichini C; Dallapiccola B
    Am J Med Genet; 2001 Jan; 98(3):286-7. PubMed ID: 11169571
    [No Abstract]   [Full Text] [Related]  

  • 3. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
    Nagai T; Matsumoto N; Kurotaki N; Harada N; Niikawa N; Ogata T; Imaizumi K; Kurosawa K; Kondoh T; Ohashi H; Tsukahara M; Makita Y; Sugimoto T; Sonoda T; Yokoyama T; Uetake K; Sakazume S; Fukushima Y; Naritomi K
    J Med Genet; 2003 Apr; 40(4):285-9. PubMed ID: 12676901
    [No Abstract]   [Full Text] [Related]  

  • 4. Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
    Maróti Z; Kutsche K; Sutajova M; Gal A; Nothwang HG; Czeizel AE; Tímár L; Sólyom E
    Am J Med Genet; 2002 May; 109(3):234-7. PubMed ID: 11977185
    [No Abstract]   [Full Text] [Related]  

  • 5. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
    Gripp KW; Lin AE; Stabley DL; Nicholson L; Scott CI; Doyle D; Aoki Y; Matsubara Y; Zackai EH; Lapunzina P; Gonzalez-Meneses A; Holbrook J; Agresta CA; Gonzalez IL; Sol-Church K
    Am J Med Genet A; 2006 Jan; 140(1):1-7. PubMed ID: 16329078
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myhre syndrome: new reports, review, and differential diagnosis.
    Burglen L; Héron D; Moerman A; Dieux-Coeslier A; Bourguignon JP; Bachy A; Carel JC; Cormier-Daire V; Manouvrier S; Verloes A
    J Med Genet; 2003 Jul; 40(7):546-51. PubMed ID: 12843331
    [No Abstract]   [Full Text] [Related]  

  • 7. Costello syndrome: report and review.
    van Eeghen AM; van Gelderen I; Hennekam RC
    Am J Med Genet; 1999 Jan; 82(2):187-93. PubMed ID: 9934987
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Is growth hormone treatment beneficial or harmful in Costello syndrome?
    Kerr B; Einaudi MA; Clayton P; Gladman G; Eden T; Saunier P; Genevieve D; Philip N
    J Med Genet; 2003 Jun; 40(6):e74. PubMed ID: 12807973
    [No Abstract]   [Full Text] [Related]  

  • 9. Is the locus for Costello syndrome on 11p?
    Kerr B; Mucchielli ML; Sigaudy S; Fabre M; Saunier P; Voelckel MA; Howard E; Elles R; Eden TO; Black GC; Philip N
    J Med Genet; 2003 Jun; 40(6):469-71. PubMed ID: 12807971
    [No Abstract]   [Full Text] [Related]  

  • 10. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
    Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H
    J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case of Myhre syndrome with autism and peculiar skin histological findings.
    Titomanlio L; Marzano MG; Rossi E; D'Armiento M; De Brasi D; Vega GR; Andreucci MV; Orsini AV; Santoro L; Sebastio G
    Am J Med Genet; 2001 Oct; 103(2):163-5. PubMed ID: 11568925
    [TBL] [Abstract][Full Text] [Related]  

  • 12. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
    Estep AL; Tidyman WE; Teitell MA; Cotter PD; Rauen KA
    Am J Med Genet A; 2006 Jan; 140(1):8-16. PubMed ID: 16372351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
    Wouters L; Rodriguez Rodriguez CM; Dapena EP; Poorten VV; Devriendt K; Van Esch H
    Eur J Med Genet; 2011; 54(3):236-40. PubMed ID: 21262397
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
    Vinkler C; Leshinsky-Silver E; Michelson M; Haas D; Lerman-Sagie T; Lev D
    Eur J Med Genet; 2014; 57(6):288-92. PubMed ID: 24709618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
    Miyake N; Shimokawa O; Harada N; Sosonkina N; Okubo A; Kawara H; Okamoto N; Ohashi H; Kurosawa K; Naritomi K; Kaname T; Nagai T; Shotelersuk V; Hou JW; Fukushima Y; Kondoh T; Matsumoto T; Shinoki T; Kato M; Tonoki H; Nomura M; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N
    Am J Med Genet A; 2006 Feb; 140(3):291-3. PubMed ID: 16278908
    [No Abstract]   [Full Text] [Related]  

  • 16. Costello syndrome.
    Dearlove O; Harper N
    Paediatr Anaesth; 1997; 7(6):476-7. PubMed ID: 9365976
    [No Abstract]   [Full Text] [Related]  

  • 17. Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
    Mochida GH; Rajab A; Eyaid W; Lu A; Al-Nouri D; Kosaki K; Noruzinia M; Sarda P; Ishihara J; Bodell A; Apse K; Walsh CA
    J Med Genet; 2004 Jun; 41(6):e87. PubMed ID: 15173253
    [No Abstract]   [Full Text] [Related]  

  • 18. Bindewald syndrome: Tetralogy of Fallot, large ears, severe growth and mental retardation.
    Belengeanu V; Rozsnyai K; Farcaş S; Lacatuşu A
    Am J Med Genet A; 2005 Feb; 132A(4):445-6. PubMed ID: 15578610
    [No Abstract]   [Full Text] [Related]  

  • 19. [Costello syndrome: clinical aspects and tumor risk].
    Delrue MA; Arveiler B; Lacombe D
    Arch Pediatr; 2002 Oct; 9(10):1059-63. PubMed ID: 12462839
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-term follow-up of three individuals with Kabuki syndrome.
    Shalev SA; Clarke LA; Koehn D; Langlois S; Zackai EH; Hall JG; McDonald McGinn DM
    Am J Med Genet A; 2004 Mar; 125A(2):191-200. PubMed ID: 14981723
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.