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 27225

• Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
  Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T.Mol Cell Probes. 2019 Jan 2; . Epub 2019 Jan 2.
• K-ras mutation subtypes in NSCLC and associated co-occuring mutations in other oncogenic pathways.
  Scheffler M, Ihle MA, Hein R, Merkelbach-Bruse S, Scheel AH, Siemanowski J, Brägelmann J, Kron A, Abedpour N, Ueckeroth F, et al.J Thorac Oncol. 2018 Dec 31; . Epub 2018 Dec 31.
• Transplantation.
  Zain J.Cancer Treat Res. 2019; 176:269-287.
• Sudden seizure during cesarean section: A case report.
  Zhou W, Zhu Q.Medicine (Baltimore). 2018 Dec; 97(52):e13785.
• Large-scale mining disease comorbidity relationships from post-market drug adverse events surveillance data.
  Zheng C, Xu R.BMC Bioinformatics. 2018 Dec 28; 19(Suppl 17):500. Epub 2018 Dec 28.

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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 698

• Systematic review of spontaneous splenic rupture in dengue-infected patients.
  Radwan I, Magdy Khattab M, Mahmoud AR, Nghia TLB, Y MN, Trung DT, Hirayama K, Huy NT.Rev Med Virol. 2019 Jan 4; :e2029. Epub 2019 Jan 4.
• Risk of Transverse Myelitis Following Dengue Infection: A Systematic Review of the Literature.
  Badat N, Abdulhussein D, Oligbu P, Ojubolamo O, Oligbu G.Pharmacy (Basel). 2018 Dec 23; 7(1). Epub 2018 Dec 23.
• Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
  Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, et al.J Pediatr. 2019 Jan; 204:305-313.e14.
• Treatment of idiopathic inflammatory myositis associated interstitial lung disease: A systematic review and meta-analysis.
  Barba T, Fort R, Cottin V, Provencher S, Durieu I, Jardel S, Hot A, Reynaud Q, Lega JC.Autoimmun Rev. 2018 Dec 17; . Epub 2018 Dec 17.
• Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing's syndrome.
  Knoble N, Nayroles G, Cheng C, Arnould B.Orphanet J Rare Dis. 2018 Dec 19; 13(1):228. Epub 2018 Dec 19.

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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 18824

• Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
  Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T.Mol Cell Probes. 2019 Jan 2; . Epub 2019 Jan 2.
• Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
  Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, et al.Am J Hum Genet. 2019 Jan 3; 104(1):45-54.
• A Rare Diagnosis in Children: Burkitt Leukemia Associated With Mediastinal Germ Cell Tumors.
  Guzelkucuk Z, Ozyoruk D, Koca Yozgat A, Aker CB, Cakmakli HF, Yazal Erdem A, Yaman Bajin I, Arman Bilir O, Bahsi T.J Pediatr Hematol Oncol. 2019 Jan 2; . Epub 2019 Jan 2.
• Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
  Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, et al.Genet Med. 2019 Jan 3; . Epub 2019 Jan 3.
• VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.
  Iourov IY, Vorsanova SG, Yurov YB, Bertrand T.Mol Cytogenet. 2018; 11:61. Epub 2018 Dec 24.

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