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Journal Abstract Search

154 related items for PubMed ID: 30573661

  • 21. Septic Shock and Purpura Fulminans Due to Streptococcus pneumoniae Bacteremia in an Unvaccinated Immunocompetent Adult: Case Report and Review.
    Djurdjevic N, Taweesedt PT, Paulson M, LaNou A, Radovanovic M, Patel JN, Veselinovic M, McDermott WR, Dumic I.
    Am J Case Rep; 2020 Jun 09; 21():e923266. PubMed ID: 32513908
    [Abstract] [Full Text] [Related]

  • 22. Hirschsprung's disease in children with Mowat-Wilson syndrome.
    Coyle D, Puri P.
    Pediatr Surg Int; 2015 Aug 09; 31(8):711-7. PubMed ID: 26156877
    [Abstract] [Full Text] [Related]

  • 23. Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.
    Cano Sierra JD, Mestra CF, Ronderos Dumit MA.
    Cardiol Young; 2018 Aug 09; 28(8):1074-1076. PubMed ID: 29954473
    [Abstract] [Full Text] [Related]

  • 24. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
    Kilic E, Cetinkaya A, Utine GE, Boduroğlu K.
    J Child Neurol; 2016 Jun 09; 31(7):913-7. PubMed ID: 26809768
    [Abstract] [Full Text] [Related]

  • 25. Clinical spectrum and short-term outcome of adult patients with purpura fulminans: a French multicenter retrospective cohort study.
    Contou D, Sonneville R, Canoui-Poitrine F, Colin G, Coudroy R, Pène F, Tadié JM, Cour M, Béduneau G, Marchalot A, Guérin L, Jochmans S, Ehrmann S, Terzi N, Préau S, Barbier F, Schnell G, Roux D, Leroy O, Pichereau C, Gélisse E, Zafrani L, Layese R, Brun-Buisson C, Mekontso Dessap A, de Prost N, Hopeful Study Group.
    Intensive Care Med; 2018 Sep 09; 44(9):1502-1511. PubMed ID: 30128591
    [Abstract] [Full Text] [Related]

  • 26. Mowat-Wilson syndrome detected by using high resolution microarray.
    Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ.
    Gene; 2013 Dec 15; 532(2):307-9. PubMed ID: 24029077
    [Abstract] [Full Text] [Related]

  • 27. Clinical utility gene card for: Mowat-Wilson syndrome.
    Zollino M, Garavelli L, Rauch A.
    Eur J Hum Genet; 2011 Aug 15; 19(8):. PubMed ID: 21343952
    [No Abstract] [Full Text] [Related]

  • 28. [Prenatal diagnosis of a fetus with Mowat-Wilson syndrome].
    Hu R, Luo X, Li Y, Lu J, Huang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1203-1205. PubMed ID: 31813148
    [Abstract] [Full Text] [Related]

  • 29. Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
    Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R.
    J Appl Genet; 2021 Sep 10; 62(3):477-485. PubMed ID: 33982229
    [Abstract] [Full Text] [Related]

  • 30. Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
    Evans CA, Pinner J, Chan CY, Bowyer L, Mowat D, Buckley MF, Roscioli T.
    Am J Med Genet A; 2019 Oct 10; 179(10):2152-2157. PubMed ID: 31321886
    [Abstract] [Full Text] [Related]

  • 31. ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
    Buraniqi E, Moodley M.
    J Child Neurol; 2015 Jan 10; 30(1):32-6. PubMed ID: 25028418
    [Abstract] [Full Text] [Related]

  • 32. Rare association of Hirschsprung's disease and Joubert syndrome.
    Ozyurek H, Kayacik OE, Gungor O, Karagoz F.
    Eur J Pediatr; 2008 Apr 10; 167(4):475-7. PubMed ID: 17516083
    [Abstract] [Full Text] [Related]

  • 33. Fatal purpura fulminans and septic shock in asplenic patient with Streptococcus pneumoniae bacteremia.
    White C, Guarascio AJ, Draper HM.
    J Am Pharm Assoc (2003); 2014 Apr 10; 54(1):88-90. PubMed ID: 24407746
    [No Abstract] [Full Text] [Related]

  • 34. [Mowat-Wilson syndrome: a report of three Danish cases].
    Nissen KB, Søndergaard C, Thelle T, Møller RS.
    Ugeskr Laeger; 2011 Sep 05; 173(36):2199-200. PubMed ID: 21893004
    [Abstract] [Full Text] [Related]

  • 35. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
    Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.
    Genet Med; 2018 Sep 05; 20(9):965-975. PubMed ID: 29300384
    [Abstract] [Full Text] [Related]

  • 36. Purpura Fulminans: A rare presentation of Streptococcus Pneumoniae infection.
    Teo HG, Wong JY, Ting TLL.
    BMJ Case Rep; 2017 Oct 20; 2017():. PubMed ID: 29054893
    [Abstract] [Full Text] [Related]

  • 37. Skin biopsy polymerase chain reaction for rapid microbiological diagnosis in patients with purpura fulminans.
    de Risi-Pugliese T, Servy A, Decousser JW, Nebbad B, Desroches M, Wolkenstein P, de Prost N, Chosidow O.
    Br J Dermatol; 2017 Oct 20; 177(4):e154-e155. PubMed ID: 28369801
    [No Abstract] [Full Text] [Related]

  • 38. Purpura fulminans associated with Streptococcus pneumoniae infection in a child.
    Cnota JF, Barton LL, Rhee KH.
    Pediatr Emerg Care; 1999 Jun 20; 15(3):187-8. PubMed ID: 10389955
    [Abstract] [Full Text] [Related]

  • 39. Mowat-Wilson syndrome in a Chinese population: A case series.
    Ho S, Luk HM, Chung BH, Fung JL, Mak HH, Lo IFM.
    Am J Med Genet A; 2020 Jun 20; 182(6):1336-1341. PubMed ID: 32196960
    [Abstract] [Full Text] [Related]

  • 40. Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
    Tanteles GA, Christophidou-Anastasiadou V.
    Clin Dysmorphol; 2014 Jan 20; 23(1):20-23. PubMed ID: 24263623
    [No Abstract] [Full Text] [Related]

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