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Journal Abstract Search

149 related items for PubMed ID: 9202862

  • 21. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G, Rosenberg J, Blaser S, Rauen KA.
    Dev Med Child Neurol; 2007 Dec; 49(12):894-9. PubMed ID: 18039235
    [Abstract] [Full Text] [Related]

  • 22. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
    Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
    Clin Genet; 2008 Jan; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 23. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
    Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H.
    Eur J Med Genet; 2015 Sep; 58(9):479-87. PubMed ID: 26188272
    [Abstract] [Full Text] [Related]

  • 24. Hemimegalencephaly and linear nevus sebaceous syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2001 Sep; 21(5):336-8. PubMed ID: 11536031
    [No Abstract] [Full Text] [Related]

  • 25. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
    Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M.
    Genet Couns; 2007 Sep; 18(2):247-50. PubMed ID: 17710878
    [Abstract] [Full Text] [Related]

  • 26. Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.
    Bisogno G, Murgia A, Mammi I, Strafella MS, Carli M.
    J Pediatr Hematol Oncol; 1999 Sep; 21(5):424-7. PubMed ID: 10524458
    [Abstract] [Full Text] [Related]

  • 27. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
    Rauen KA.
    Am J Med Genet A; 2006 Aug 01; 140(15):1681-3. PubMed ID: 16804887
    [No Abstract] [Full Text] [Related]

  • 28. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
    Grebe TA, Clericuzio C.
    Am J Med Genet; 2000 Nov 13; 95(2):135-43. PubMed ID: 11078563
    [Abstract] [Full Text] [Related]

  • 29. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
    Legius E, Schollen E, Matthijs G, Fryns JP.
    Eur J Hum Genet; 1998 Jan 13; 6(1):32-7. PubMed ID: 9781012
    [Abstract] [Full Text] [Related]

  • 30. Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.
    Herman TE, McAlister WH.
    Pediatr Radiol; 2005 Feb 13; 35(2):202-5. PubMed ID: 15490149
    [Abstract] [Full Text] [Related]

  • 31. Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.
    Manoukian S, Lalatta F, Selicorni A, Tadini G, Cavalli R, Neri G.
    Am J Med Genet; 1996 May 17; 63(2):382-5. PubMed ID: 8725790
    [Abstract] [Full Text] [Related]

  • 32. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE, Rauen KA.
    Expert Rev Mol Med; 2008 Dec 09; 10():e37. PubMed ID: 19063751
    [Abstract] [Full Text] [Related]

  • 33. Speech-language and hearing findings in the cardio-facial-cutaneous syndrome.
    Lamônica DA, Abramides DV, Kokitsu-Nakata NM, Calais LL, Cassavara DT.
    Pro Fono; 2004 Dec 09; 16(2):179-86. PubMed ID: 15311742
    [Abstract] [Full Text] [Related]

  • 34. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?
    Lorenzetti ME, Fryns JP.
    Am J Med Genet; 1996 Oct 16; 65(2):97-9. PubMed ID: 8911596
    [Abstract] [Full Text] [Related]

  • 35. Schuurs-Hoeijmakers syndrome in two patients from Japan.
    Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K.
    Am J Med Genet A; 2019 Mar 16; 179(3):341-343. PubMed ID: 30588754
    [Abstract] [Full Text] [Related]

  • 36. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA, Albertson DG, Pinkel D, Cotter PD.
    Am J Med Genet; 2002 Jun 01; 110(1):51-6. PubMed ID: 12116271
    [Abstract] [Full Text] [Related]

  • 37. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
    Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M.
    Am J Med Genet; 2000 Jul 31; 93(3):219-22. PubMed ID: 10925386
    [Abstract] [Full Text] [Related]

  • 38. Niikawa-Kuroki (Kabuki) syndrome in two siblings.
    Frediani T, Lucarelli S, Bruni L.
    Minerva Pediatr; 2001 Feb 31; 53(1):43-8. PubMed ID: 11309542
    [Abstract] [Full Text] [Related]

  • 39. A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up.
    Baykan-Kurt B, Sarp A, Gökyiğit A, Tunçay R, Calişkan A.
    Seizure; 1997 Dec 31; 6(6):487-93. PubMed ID: 9530947
    [Abstract] [Full Text] [Related]

  • 40. Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
    Musto E, Gambardella ML, Perulli M, Quintiliani M, Veredice C, Verdolotti T, Berté G, Leoni C, Onesimo R, Pulitanò SM, Tartaglia M, Zampino G, Contaldo I, Battaglia DI.
    Epilepsia Open; 2024 Feb 31; 9(1):258-267. PubMed ID: 37943120
    [Abstract] [Full Text] [Related]

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