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154 related items for PubMed ID: 38628360

  • 1. 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; 12():1341841. PubMed ID: 38628360
    [Abstract] [Full Text] [Related]

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

  • 3. 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]

  • 4. 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]

  • 5. 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 30; 74(2):298-305. PubMed ID: 14740318
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 77(3):266-72. PubMed ID: 20447141
    [Abstract] [Full Text] [Related]

  • 7. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
    Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A.
    Am J Med Genet; 1998 Jun 30; 78(2):150-4. PubMed ID: 9674906
    [Abstract] [Full Text] [Related]

  • 8. One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.
    Koul R, Al-Kindy A, Mani R, Sankhla D, Al-Futaisi A.
    Sultan Qaboos Univ Med J; 2013 May 30; 13(2):301-5. PubMed ID: 23862038
    [Abstract] [Full Text] [Related]

  • 9. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
    Di Rocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti-Furga A.
    Am J Med Genet A; 2003 May 01; 118A(4):362-8. PubMed ID: 12687669
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 28(10):776-80. PubMed ID: 9799300
    [Abstract] [Full Text] [Related]

  • 11. Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
    Van De Maele K, Smulders C, Ecury-Goossen G, Rosina-Angelista I, Redeker E, van Haelst M.
    Clin Dysmorphol; 2019 Apr 01; 28(2):57-62. PubMed ID: 30614825
    [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 Apr 01; 1(7):37-44. PubMed ID: 28058407
    [Abstract] [Full Text] [Related]

  • 13. Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue.
    Lobato-Berezo A, Tormo-Mainar S, Pujol RM.
    Pediatr Dermatol; 2020 Mar 01; 37(2):381-382. PubMed ID: 31975458
    [Abstract] [Full Text] [Related]

  • 14. Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.
    Alallah J, Alamoudi LO, Makki RM, Shawli A, AlHarbi AT.
    Int J Pediatr Adolesc Med; 2022 Jun 01; 9(2):143-146. PubMed ID: 35663789
    [Abstract] [Full Text] [Related]

  • 15. [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate].
    Reither M, Urban M, Kozlowski KS, Pritsch M, Tegtmeyer FK.
    Klin Padiatr; 2006 Jun 01; 218(2):79-84. PubMed ID: 16506108
    [Abstract] [Full Text] [Related]

  • 16. Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
    Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.
    Clin Dysmorphol; 1998 Oct 01; 7(4):257-62. PubMed ID: 9823491
    [Abstract] [Full Text] [Related]

  • 17. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.
    McDermott H, Simmonds J, Thyagarajan M, Genomics England Research Consortium, Islam L, Naik S, Titheradge H.
    Eur J Med Genet; 2023 Aug 01; 66(8):104788. PubMed ID: 37295610
    [Abstract] [Full Text] [Related]

  • 18. Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn.
    Jin J, Rothämel P, Büchel J, Kammer B, Brunet T, Pattathu J, Flemmer AW, Nussbaum C, Schroepf S.
    Front Pediatr; 2023 Aug 01; 11():1329404. PubMed ID: 38239591
    [Abstract] [Full Text] [Related]

  • 19. Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.
    Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI.
    Eur J Med Genet; 2009 Aug 01; 52(4):242-6. PubMed ID: 19371797
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 179():108797. PubMed ID: 38968765
    [Abstract] [Full Text] [Related]

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