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  1. Last 7 days
  2. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 04 Nov 2026
      The selected tissue blocks were cut in 3-μm sections and were immunolabeled with antibodies directed against chromogranine A (Dako, clone DAK-A3), HIF-1α (BD Biosciences, clone 54), HIF-2α (Abcam, clone ep190b), cyclin D1 (Dako, clone DCF-6), and CA9 (Novus Biological, polyclonal). Non-neoplastic pancreatic tissue was also immunolabeled with antibodies against insulin (Dako, polyclonal) and glucagon (Sigma, clone K79bB10) to differentiate endocrine microadenomas from normal islets. In addition, 5 different blocks with microadenomas obtained from 5 patients who presented at least 5 microadenomas were selected for an additional immunostaining with VEGF (Santa-Cruz Biotechnologies, polyclonal) and CD34 (Immunotech, QBEND10) for evaluation of microvessel surface.
      ExperimentalAssay ClinVarID:2218 ClinVarID:2222 CAID:CA658795182 ClinVarID:496064 ClinVarID:193118 CAID:CA351756196 ClinVarID:526679 ClinVarID:420074 ClinVarID:178692 ClinVarID:182979 ClinVarID:223190 ClinVarID:182974 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx
  3. Oct 2026
  4. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    2
    1. ClingenBaseline 28 Oct 2026
      571delC Fs Exon 3 191 CAC H Stop201

      A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this frameshift mutation p.H191Tfs*11 (c.571delC) was found in a VHL patient with retinal hemangioblastomas. Other manifestations are not clearly stated. No family information was provided. This is possibly previously published in PMID: 15300849

      CAID:CA658795182 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      571delC Fs Exon 3 191 CAC H Stop201

      GroupID: 52

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.H191Tfs*11 (c.571delC)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA658795182 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.571delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H191FS (c.571delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline DiseaseEntity:retinalcapillaryhemangioma Ethnicity:French AssumedRefSeq:NM_000551.3 NoFamilyInfo MutationType:minus_1_frameshift_variant ProteinPosition:191 CivicName:H191FS(c.571delC) cDNAposition:571 AminoAcidChange:HIStoTHR CAID:CA658795182 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  5. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 21 Oct 2026
      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients (Table 1).

      PatientID: 9

      KindredID: 9

      Case: M, 51Y0M, Ethnicity unknown

      DiseaseAssertion: pancreatic endocrine tumor

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: See Table 1 for more information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H191Tfs*11 (c.571delC)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA658795182 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.571delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H191Tfs*11 (c.571delC)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:H191Tfs*11(c.571delC) cDNAposition:571 cDNAposition:191 AminoAcidChange:HIStoTHR ClinVarID:N/A CAID:CA658795182 MutationType:minus_1_frameshift_variant NoFamilyInfo InheritancePattern:AutosomalDominant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx