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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 26709

• The Challenges and Opportunities of Pharmacoepidemiology in Bone Diseases.
  Alarkawi D, Ali MS, Bliuc D, Center JR, Prieto-Alhambra D.JBMR Plus. 2018 Jul; 2(4):187-194. Epub 2018 Apr 30.
• Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann-Pick C1 mutant cell via lysosome-associated membrane protein 1.
  Singhal A, Szente L, Hildreth JEK, Song B.Cell Death Dis. 2018 Oct 3; 9(10):1019. Epub 2018 Oct 3.
• The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design.
  Gaasterland CMW, Jansen-van der Weide MC, Vroom E, Leeson-Beevers K, Kaatee M, Kaczmarek R, Bartels B, van der Pol WL, Roes KCB, van der Lee JH.Health Policy. 2018 Sep 21; . Epub 2018 Sep 21.
• Mesenchymal Stromal Cells Based Therapy in Systemic Sclerosis: Rational and Challenges.
  Peltzer J, Aletti M, Frescaline N, Busson E, Lataillade JJ, Martinaud C.Front Immunol. 2018; 9:2013. Epub 2018 Sep 13.
• Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.
  Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, Nagai M, Nakamura Y, Inaba Y, Yokoyama K, et al.J Am Acad Dermatol. 2018 Sep 26; . Epub 2018 Sep 26.

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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 2147

• 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.
• Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.
  Nguyen HH, M van de Laarschot D, Verkerk AJ, Milat F, Zillikens MC, Ebeling PR.JBMR Plus. 2018 Jan; 2(1):1-11. Epub 2018 Jan 3.
• Do we CARE about the quality of case reports? A systematic assessment.
  Dragnev NC, Wong SL.J Surg Res. 2018 Nov; 231:428-433. Epub 2018 Aug 6.
• Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
  Gainotti S, Mascalzoni D, Bros-Facer V, Petrini C, Floridia G, Roos M, Salvatore M, Taruscio D.Int J Environ Res Public Health. 2018 Sep 21; 15(10). Epub 2018 Sep 21.
• Vitamin D for the management of multiple sclerosis.
  Jagannath VA, Filippini G, Di Pietrantonj C, Asokan GV, Robak EW, Whamond L, Robinson SA.Cochrane Database Syst Rev. 2018 Sep 24; 9:CD008422. Epub 2018 Sep 24.

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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 18281

• Implication of non-coding PAX6 mutations in aniridia.
  Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, et al.Hum Genet. 2018 Oct 5; . Epub 2018 Oct 5.
• The Global State of the Genetic Counseling Profession.
  Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, Davoine E, Edwards J, Elackatt NJ, Gardiner K, et al.Eur J Hum Genet. 2018 Oct 5; . Epub 2018 Oct 5.
• Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
  Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, et al.Am J Hum Genet. 2018 Oct 4; 103(4):621-630.
• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
  Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, et al.Am J Hum Genet. 2018 Oct 4; 103(4):553-567.
• Whole Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.
  Pierce R, Ji W, Chan EC, Xie Z, Long LM, Khokha M, Lakhani S, Druey KM.Shock. 2018 Oct 4; . Epub 2018 Oct 4.

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