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231 related items for PubMed ID: 14740318

  • 1. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
    Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.
    Am J Hum Genet; 2004 Feb; 74(2):298-305. PubMed ID: 14740318
    [Abstract] [Full Text] [Related]

  • 2. Mutations in LIFR rewire the JAK/STAT signaling pathway: A study unveiling mechanistic details of Stüve-Wiedemann syndrome.
    Paul I, Roy A, Chakrabarti D, Nandi C, Ray S.
    Comput Biol Med; 2024 Sep; 179():108797. PubMed ID: 38968765
    [Abstract] [Full Text] [Related]

  • 3. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
    Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.
    Clin Genet; 2010 Mar; 77(3):266-72. PubMed ID: 20447141
    [Abstract] [Full Text] [Related]

  • 4. Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
    Mikelonis D, Jorcyk CL, Tawara K, Oxford JT.
    Orphanet J Rare Dis; 2014 Mar 12; 9():34. PubMed ID: 24618404
    [Abstract] [Full Text] [Related]

  • 5. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
    Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.
    Am J Med Genet; 1998 Jun 30; 78(2):146-9. PubMed ID: 9674905
    [Abstract] [Full Text] [Related]

  • 6. New insights in congenital bowing of the femora.
    Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M.
    Clin Genet; 2004 Sep 30; 66(3):169-76. PubMed ID: 15324311
    [Abstract] [Full Text] [Related]

  • 7. Stuve-Wiedemann syndrome: is it underrecognized?
    Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T.
    Am J Med Genet A; 2014 Sep 30; 164A(9):2200-5. PubMed ID: 24988918
    [Abstract] [Full Text] [Related]

  • 8. Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.
    Guran T, Guran O, Paketci C, Kipoglu O, Firat I, Turan S, Atay Z, Haliloglu B, Bereket A.
    Pituitary; 2015 Aug 30; 18(4):456-60. PubMed ID: 25145448
    [Abstract] [Full Text] [Related]

  • 9. A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.
    Bhalla D, Sati S, Basel D, Karody V.
    Front Pediatr; 2024 Aug 30; 12():1341841. PubMed ID: 38628360
    [Abstract] [Full Text] [Related]

  • 10. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
    Romeo Bertola D, Honjo RS, Baratela WA.
    Mol Syndromol; 2016 Apr 30; 7(1):12-8. PubMed ID: 27194968
    [Abstract] [Full Text] [Related]

  • 11. Presentation of six cases of Stüve-Wiedemann syndrome.
    Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M.
    Pediatr Radiol; 1998 Oct 30; 28(10):776-80. PubMed ID: 9799300
    [Abstract] [Full Text] [Related]

  • 12. Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.
    Oxford AE, Jorcyk CL, Oxford JT.
    J Neurol Neuromedicine; 2016 Oct 30; 1(7):37-44. PubMed ID: 28058407
    [Abstract] [Full Text] [Related]

  • 13. In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
    Bellais S, Le Goff C, Dagoneau N, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2010 Jan 30; 18(1):130-2. PubMed ID: 19603067
    [Abstract] [Full Text] [Related]

  • 14. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
    Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F.
    Am J Med Genet A; 2021 Mar 30; 185(3):856-865. PubMed ID: 33305909
    [Abstract] [Full Text] [Related]

  • 15. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
    Hatagami Marques J, Lopes Yamamoto G, de Cássia Testai L, da Costa Pereira A, Kim CA, Passos-Bueno MR, Romeo Bertola D.
    Mol Syndromol; 2015 Jul 30; 6(2):87-90. PubMed ID: 26279654
    [Abstract] [Full Text] [Related]

  • 16. Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor.
    Plun-Favreau H, Perret D, Diveu C, Froger J, Chevalier S, Lelièvre E, Gascan H, Chabbert M.
    J Biol Chem; 2003 Jul 18; 278(29):27169-79. PubMed ID: 12707269
    [Abstract] [Full Text] [Related]

  • 17. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
    Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.
    Am J Hum Genet; 2007 May 18; 80(5):966-70. PubMed ID: 17436251
    [Abstract] [Full Text] [Related]

  • 18. Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?
    Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A.
    Clin Genet; 2016 Feb 18; 89(2):210-6. PubMed ID: 26285796
    [Abstract] [Full Text] [Related]

  • 19. The leukemia inhibitory factor receptor (LIFR) gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12-p13.
    Gearing DP, Druck T, Huebner K, Overhauser J, Gilbert DJ, Copeland NG, Jenkins NA.
    Genomics; 1993 Oct 18; 18(1):148-50. PubMed ID: 8276403
    [Abstract] [Full Text] [Related]

  • 20. Characterization of the leukemia inhibitory factor receptor in the goldfish (Carassius auratus).
    Hanington PC, Belosevic M.
    Fish Shellfish Immunol; 2005 May 18; 18(5):359-69. PubMed ID: 15683914
    [Abstract] [Full Text] [Related]

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