Rare Diseases [NEW TOPIC PAGE]

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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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• Search PubMed Clinical Queries for "Rare diseases" 

Results: 5 of 26754

• Information provision for people with multiple sclerosis.
  Köpke S, Solari A, Rahn A, Khan F, Heesen C, Giordano A.Cochrane Database Syst Rev. 2018 Oct 14; 10:CD008757. Epub 2018 Oct 14.
• Primary central nervous system lymphoma.
  Löw S, Han CH, Batchelor TT.Ther Adv Neurol Disord. 2018; 11:1756286418793562. Epub 2018 Oct 5.
• Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
  Rauen KA, Schoyer L, Schill L, Stronach B, Albeck J, Andresen BS, Cavé H, Ellis M, Fruchtman SM, Gelb BD, et al.Am J Med Genet A. 2018 Oct 10; :e40632. Epub 2018 Oct 10.
• Multi-SKAT: General framework to test for rare-variant association with multiple phenotypes.
  Dutta D, Scott L, Boehnke M, Lee S.Genet Epidemiol. 2018 Oct 8; . Epub 2018 Oct 8.
• Maternal and perinatal outcomes after elective labor induction at 39 weeks in uncomplicated singleton pregnancies: a meta-analysis.
  Sotiradis A, Petousis S, Thilaganathan B, Figueras F, Martins WP, Odibo AO, Dinas K, Hyett J.Ultrasound Obstet Gynecol. 2018 Oct 8; . Epub 2018 Oct 8.

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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 2152

• Information provision for people with multiple sclerosis.
  Köpke S, Solari A, Rahn A, Khan F, Heesen C, Giordano A.Cochrane Database Syst Rev. 2018 Oct 14; 10:CD008757. Epub 2018 Oct 14.
• European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors
  Fassnacht M, Dekkers OM, Else T, Baudin E, Berruti A, de Krijger R, Haak HR, Mihai R, Assie G, Terzolo M.Eur J Endocrinol. 2018 Oct 1; 179(4):G1-G46. Epub 2018 Oct 1.
• Maternal and perinatal outcomes after elective labor induction at 39 weeks in uncomplicated singleton pregnancies: a meta-analysis.
  Sotiradis A, Petousis S, Thilaganathan B, Figueras F, Martins WP, Odibo AO, Dinas K, Hyett J.Ultrasound Obstet Gynecol. 2018 Oct 8; . Epub 2018 Oct 8.
• Oral Sensory-Motor Intervention for Children and Adolescents (3-18 Years) With Dysphagia or Impaired Saliva Control Secondary to Congenital or Early-Acquired Disabilities: A Review of the Literature, 2000 to 2016.
  Sjögreen L, Gonzalez Lindh M, Brodén M, Krüssenberg C, Ristic I, Rubensson A, McAllister A.Ann Otol Rhinol Laryngol. 2018 Oct 8; :3489418803963. Epub 2018 Oct 8.
• Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.
  Regelmann MO, Kamboj M, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R, Pediatric Endocrine Society Drug and Therapeutics & Rare Disorders Committee..J Clin Endocrinol Metab. 2018 Oct 4; . Epub 2018 Oct 4.

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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 18316

• HIBISCUS: HYDROXYCHLOROQUINE FOR THE SECONDARY PREVENTION OF THROMBOTIC AND OBSTETRICAL EVENTS IN PRIMARY ANTIPHOSPHOLIPID SYNDROME.
  Belizna C, Pregnolato F, Abad S, Alijotas-Reig J, Amital H, Amoura Z, Andreoli L, Andres E, Aouba A, Bilgen SA, et al.Autoimmun Rev. 2018 Oct 11; . Epub 2018 Oct 11.
• Common and rare GCH1 variants are associated with Parkinson's disease.
  Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, et al.Neurobiol Aging. 2018 Sep 15; . Epub 2018 Sep 15.
• Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.
  Li W, He X, Yang S, Liu C, Wu H, Liu W, Lv M, Tang D, Tan J, Tang S, et al.J Hum Genet. 2018 Oct 11; . Epub 2018 Oct 11.
• Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function.
  Shahin T, Aschenbrenner D, Cagdas D, Köstel Bal S, Domínguez Conde C, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Gur Cetinkaya P, et al.Haematologica. 2018 Oct 11; . Epub 2018 Oct 11.
• Defining renal phenotype in Alström syndrome.
  Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, et al.Nephrol Dial Transplant. 2018 Oct 10; . Epub 2018 Oct 10.

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