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 26981

• Rituximab and Fibrillary Glomerulonephritis: Interest of B Cell Reconstitution Monitoring.
  Leibler C, Moktefi A, Matignon M, Debiais-Delpech C, Oniszczuk J, Sahali D, Cohen JL, Grimbert P, Audard V.J Clin Med. 2018 Nov 9; 7(11). Epub 2018 Nov 9.
• Applicability and added value of novel methods to improve drug development in rare diseases.
  Mitroiu M, Rengerink KO, Pontes C, Sancho A, Vives R, Pesiou S, Fontanet JM, Torres F, Nikolakopoulos S, Pateras K, et al.Orphanet J Rare Dis. 2018 Nov 12; 13(1):200. Epub 2018 Nov 12.
• Treatment of Pulmonary Vasculitis.
  Terrier B, Guillevin L.Semin Respir Crit Care Med. 2018 Aug; 39(4):504-510. Epub 2018 Nov 7.
• Recommendations for the design of small population clinical trials.
  Day S, Jonker AH, Lau LPL, Hilgers RD, Irony I, Larsson K, Roes KC, Stallard N.Orphanet J Rare Dis. 2018 Nov 6; 13(1):195. Epub 2018 Nov 6.
• Disease Progression in Huntington Disease: An Analysis of Multiple Longitudinal Outcomes.
  Garcia TP, Wang Y, Shoulson I, Paulsen JS, Marder K.J Huntingtons Dis. 2018 Oct 29; . Epub 2018 Oct 29.

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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 2189

• Impact of biobanks on research outcomes in rare diseases: a systematic review.
  Garcia M, Downs J, Russell A, Wang W.Orphanet J Rare Dis. 2018 Nov 12; 13(1):202. Epub 2018 Nov 12.
• Diagnosis and Treatment of Isolated Cerebral Mucormycosis: Patient-Level Data Meta-Analysis and Mayo Clinic Experience.
  Kerezoudis P, Watts CR, Bydon M, Dababneh AS, Deyo CN, Frye JM, Kelley PC, Kemp AM, Palraj BV, Pupillo GT.World Neurosurg. 2018 Nov 8; . Epub 2018 Nov 8.
• An unusual case of Nocardia cyriacigeorgica presenting with spinal abscesses in a renal transplant recipient and a review of the literature.
  Freiberg JA, Saharia KK, Morales MK.Transpl Infect Dis. 2018 Nov 10; :e13025. Epub 2018 Nov 10.
• Adenovirus-Associated Central Nervous System Disease in Children.
  Schwartz KL, Richardson SE, MacGregor D, Mahant S, Raghuram K, Bitnun A.J Pediatr. 2018 Nov 6; . Epub 2018 Nov 6.
• The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene.
  Zheglo D, Brueckner LM, Sepman O, Wecht EM, Kuligina E, Suspitsin E, Imyanitov E, Savelyeva L.Genes Chromosomes Cancer. 2018 Nov 8; . Epub 2018 Nov 8.

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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 18527

• Uterine Prolapse in Pregnancy: Two Cases Report and Literature Review.
  Zeng C, Yang F, Wu C, Zhu J, Guan X, Liu J.Case Rep Obstet Gynecol. 2018; 2018:1805153. Epub 2018 Oct 22.
• Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
  Molin A, Nowoczyn M, Coudray N, Ballandone C, Abéguilé G, Mittre H, Richard N, Eckart P, Castanet M, Kottler ML.Eur J Med Genet. 2018 Nov 10; . Epub 2018 Nov 10.
• Glycomics in rare diseases: from diagnosis to mechanism.
  Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, et al.Transl Res. 2018 Oct 23; . Epub 2018 Oct 23.
• SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
  Zou WB, Tang XY, Zhou DZ, Qian YY, Hu LH, Yu FF, Yu D, Wu H, Deng SJ, Lin JH, et al.Clin Transl Gastroenterol. 2018 Nov 12; 9(11):204. Epub 2018 Nov 12.
• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
  Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, et al.EMBO J. 2018 Nov 12; . Epub 2018 Nov 12.

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