PubMed Clinical Queries for "Rare diseases"

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From PubMed Clinical Queries

PubMed Clinical Queries is an utility offered by PubMed to search scientific literature in specific clinical research areas

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Results: 5 of 26469

• Incidence of chronic thromboembolic pulmonary hypertension in Thammasat University Hospital.
  Puengpapat S, Pirompanich P.Lung India. 2018 Sep-Oct; 35(5):373-378.
• Chordoma: a case series and review of the literature.
  Alan O, Akin Telli T, Ercelep O, Tanrikulu Simsek E, Basoglu Tuylu T, Mutis A, Hasanov R, Kaya S, Akgül Babacan N, Dane F, et al.J Med Case Rep. 2018 Aug 27; 12(1):239. Epub 2018 Aug 27.
• Clinical heterogeneity of human parvovirus B19 infection following adult liver transplantation.
  Zhang J, Ren B, Hui R, Sun Y, Liu Z, Zhou S.Medicine (Baltimore). 2018 Aug; 97(34):e12074.
• More research is needed on the use of probiotics for critically ill patients.
  Hojsak I, Fabiano V, Pop TL, Goulet O, Zuccotti GV, Çokuğraş FC, Pettoello-Mantovani M, Kolaček S.Acta Paediatr. 2018 Aug 21; . Epub 2018 Aug 21.
• FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis.
  Kasamon YL, Ko CW, Subramaniam S, Ma L, Yang Y, Nie L, Shord S, Przepiorka D, Farrell AT, McKee AE, et al.Oncologist. 2018 Aug 16; . Epub 2018 Aug 16.

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This column displays citations filtered to a specific clinical study category and scope. These search filters were developed by Haynes RB et al. See more filter information.

Systematic Reviews

Results: 5 of 2102

• The 2018 ISDE achalasia guidelines.
  Zaninotto G, Bennett C, Boeckxstaens G, Costantini M, Ferguson MK, Pandolfino JE, Patti MG, Ribeiro U Jr, Richter J, Swanstrom L, et al.Dis Esophagus. 2018 Aug 30; . Epub 2018 Aug 30.
• Diagnosis and management of fibromuscular dysplasia and segmental arterial mediolysis in gastroenterology field: A mini-review.
  Ko M, Kamimura K, Ogawa K, Tominaga K, Sakamaki A, Kamimura H, Abe S, Mizuno K, Terai S.World J Gastroenterol. 2018 Aug 28; 24(32):3637-3649.
• Can untreated PKU patients escape from intellectual disability? A systematic review.
  van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, et al.Orphanet J Rare Dis. 2018 Aug 29; 13(1):149. Epub 2018 Aug 29.
• Rare gene deletions in genetic generalized and Rolandic epilepsies.
  Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, et al.PLoS One. 2018; 13(8):e0202022. Epub 2018 Aug 27.
• 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.
  Gagliano A, Pironti E, Cucinotta F, Galati C, Maggio R, Alquino MA, Di Rosa G.Case Rep Med. 2018; 2018:3871425. Epub 2018 Jul 12.

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This column displays citations for systematic reviews, meta-analyses, reviews of clinical trials, evidence-based medicine, consensus development conferences, and guidelines. See filter information or additional related sources.

Medical Genetics

Topic:AllDiagnosisDifferential DiagnosisClinical DescriptionManagementGenetic CounselingMolecular GeneticsGenetic Testing

Results: 5 of 18064

• Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors.
  Treger TD, Chagtai T, Butcher R, Cresswell GD, Al-Saadi R, Brok J, Williams RD, Roberts C, Luscombe NM, Pritchard Jones K, et al.Transl Oncol. 2018 Aug 29; 11(6):1301-1306. Epub 2018 Aug 29.
• Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva.
  Maruyama R, Yokota T.Methods Mol Biol. 2018; 1828:497-502.
• Dysferlin Exon 32 Skipping in Patient Cells.
  Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M.Methods Mol Biol. 2018; 1828:489-496.
• novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data.
  Kumar Mohanty A, Vuzman D, Francioli L, Cassa C, Brigham Genomic Medicine., Undiagnosed Diseases Network., Brigham and Women’s Hospital FaceBase Project., Toth-Petroczy A, Sunyaev S.Bioinformatics. 2018 Aug 30; . Epub 2018 Aug 30.
• Understanding the evolving phenotype of vascular complications in telomere biology disorders.
  Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, et al.Angiogenesis. 2018 Aug 25; . Epub 2018 Aug 25.

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This column displays citations pertaining to topics in medical genetics. See more filter information.