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1. Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits NSTL国家科技图书文献中心

Bayona-Bafaluy, Pila... |  Sanz-Pons, Javier... -  《Clinical Genetics》 - 2025,107(5) - 505~510 - 共6页

摘要: review of the literature on rare mutations associated |  the rare mutations. |  modifying the penetrance of rare Leber hereditary optic |  neuropathy-causing mutations in respiratory complex I genes |  mutations associated with this disease may offer insights
关键词: incomplete penetrance |  Leber hereditary optic neuropathy |  mitochondrial deoxyribonucleic acid |  rare mutation |  respiratory complex I genes

2. Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia NSTL国家科技图书文献中心

Xue, Jiang |  Zhang, Jianyun... -  《Journal of oral pathology and medicine》 - 2025,54(2) - 120~125 - 共6页

摘要:, a limited number of rare mutations, including |  exhibiting rare GNAS mutations. Employing DNA sequencing on |  activating mutations of GNAS, is a skeletal disorder with |  prevalent mutations such as R201C and R201H dominate in FD |  mutations motivates our investigation, seeking to enhance
关键词: fibrous dysplasia |  GNAS |  Q227E |  R201S |  rare mutation

3. Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing NSTL国家科技图书文献中心

Huang, Minjun |  Huang, Jiexiang... -  《Clinical laboratory》 - 2025,71(1) - 64~72 - 共9页

摘要: these 13 cases of rare thalassemia gene mutations |  gene mutations. Methods: Blood samples (n = 119) with |  identified HBA1/2and HBB gene mutations in 82 individuals |  of rare HBA1/2mutations (--(THAI), HBA2:c.34A>C | , and HBA1:c.354_355insATC), two types of rare HBA
关键词: third-generation sequencing |  thalassemia |  rare mutations |  HB genes |  diagnostic accuracy

4. Rare Forms of Autosomal Recessive Spinocerebellar Ataxia Associated with Mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) Genes NSTL国家科技图书文献中心

E. P.,Nuzhnyi |  A. O.,Protopopova... -  《Neuroscience and behavioral physiology》 - 2025,55(1) - 139~144 - 共6页

摘要: characteristics of patients with confirmed diagnoses of rare |  Scale (MoCA) were performed. Screening for mutations |  mutations c.G1025A (p.W342X) and c.C1244G (p.S415X |  missense mutations c.A110C (p.N37T) and c.T104C (p.L35P |  mutations in Russian patients with ATX-ANO10 and ATX-SYNE1
关键词: spinocerebellar ataxia |  massive parallel sequencing |  ANO10 gene |  SYNE1 gene

5. Rare exon 18 G719A and exon 21 L833V compound EGFR mutations show favorable response to Third-Generation TKI Furmonertinib: A case report and literature review NSTL国家科技图书文献中心

Yuejian, Jijun |  Zhao, Jijun... -  《Investigational new drugs.》 - 2025,43(2) - 425~432 - 共8页

摘要: mutations are the most common mutations in lung | ). However, the efficacy of TKIs in rare compound EGFR |  mutations remains uncertain. We report a case of lung |  L833V mutations, showing a favorable response to third |  sequencing analysis identified a rare EGFR exon 18 G719A
关键词: Lung adenocarcinoma |  EGFR exon 18 G719A mutation |  EGFR exon 21 L833V |  TKI |  Furmonertinib

6. Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent NSTL国家科技图书文献中心

Marucci, Antonella |  Menzaghi, Claudia... -  《Acta diabetologica.》 - 2025,62(3) - 323~328 - 共6页

摘要: Bangladesh with CEL- and RFX6- diabetes, two rare types of | Aims Monogenic diabetes is one of the few |  examples in metabolic diseases in which a real precision |  medicine approach can be implemented in daily clinical |  work. Unfortunately, most of what is known today
关键词: Monogenic diabetes |  CEL-diabetes; RFX6-diabetes |  Non-europeans

7. Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome NSTL国家科技图书文献中心

Farshid, Gelareh |  Ibbetson, S. Jan... -  《Pathology》 - 2025,57(1) - 65~71 - 共7页

摘要: rare cancer predisposition syndrome, caused chiefly |  remaining 11 patients' mutations being discovered later | PTEN hamartoma tumour syndrome (PHTS) is a |  by pathogenic and likely pathogenic (P/LP) variants |  in in the PTEN gene. Carriers have substantially
关键词: breast cancer |  Cowden syndrome |  PTEN |  screening |  familial

8. Atypical Hairy Cell Leukemia-The Current Status and Future Directions NSTL国家科技图书文献中心

Robak, Tadeusz |  Robak, Marta... -  《European Journal of Haematology》 - 2025,114(5) - 747~762 - 共16页

摘要:Hairy cell leukemia (HCL) is a rare, chronic |  mutation, rare examples have been reported without | , atypical genotype, and rare symptoms. Publications from |  lymphoid leukemia characterized by circulating |  lymphocytes with pale, hair-like cytoplasmic projections
关键词: abnormal immunophenotype |  atypical morphology |  epidemiology |  hairy cell leukemia |  rare mutations |  treatment

9. Geometry-induced competitive release in a meta-population model of range expansions in disordered environments NSTL国家科技图书文献中心

Jimmy Gonzalez Nunez |  Daniel Beller -  《Journal of the Royal Society Interface》 - 2025,22(TN.227) - 0698~13 - 共13页

摘要: of rare mutations and of adaptation from standing |  environmental noise in shaping the fate of rare mutations is | Rare evolutionary events,such as the rise to |  prominence of deleterious mutations,can have drastic |  impacts on the evolution of growing
关键词: range expansion |  heterogeneous environments |  competitive release |  spatial genetic structure |  percolation

10. Theranostics vs theratyping or theranostics plus theratyping? NSTL国家科技图书文献中心

Amaral, Margarida D. |  Pankonien, Ines -  《Journal of cystic fibrosis》 - 2025,24(1) - 10~15 - 共6页

摘要:Treating all people with Cystic Fibrosis (pwCF | ) to the level of benefit achieved by highly |  efficient CFTR modulator therapies (HEMT) remains a |  significant challenge. Theratyping and theranostics are two |  distinct approaches to advance CF treatment. Both
关键词: Orphan mutations |  Rare diseases |  CFTR modulators |  Highly effective CFTR modulator therapies
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