BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 22709368)

  • 21. A Novel Likely Pathogenic Variant in the
    Boeckelmann D; Wolter M; Käsmann-Kellner B; Koehler U; Schieber-Nakamura L; Zieger B
    Cells; 2021 Oct; 10(10):. PubMed ID: 34685610
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
    Carmona-Rivera C; Simeonov DR; Cardillo ND; Gahl WA; Cadilla CL
    Biochim Biophys Acta; 2013 Mar; 1833(3):468-78. PubMed ID: 23103514
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic variants associated with Hermansky-Pudlak syndrome.
    Merideth MA; Introne WJ; Wang JA; O'Brien KJ; Huizing M; Gochuico BR
    Platelets; 2020 May; 31(4):544-547. PubMed ID: 32436471
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
    Korswagen LA; Huizing M; Simsek S; Janssen JJ; Zweegman S
    Eur J Haematol; 2008 Apr; 80(4):356-60. PubMed ID: 18182080
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
    Liu T; Yuan Y; Bai D; Qi Z; Yang L; Zhang T; Yang X; Li W; Wei A
    Pigment Cell Melanoma Res; 2021 Jan; 34(1):111-121. PubMed ID: 32725903
    [TBL] [Abstract][Full Text] [Related]  

  • 26. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
    Wei A; Yuan Y; Bai D; Ma J; Hao Z; Zhang Y; Yu J; Zhou Z; Yang L; Yang X; Li L; Li W
    Pigment Cell Melanoma Res; 2016 Nov; 29(6):702-706. PubMed ID: 27593200
    [TBL] [Abstract][Full Text] [Related]  

  • 27. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
    Nazarian R; Huizing M; Helip-Wooley A; Starcevic M; Gahl WA; Dell'Angelica EC
    Mol Genet Metab; 2008 Feb; 93(2):134-44. PubMed ID: 17933573
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
    Huizing M; Scher CD; Strovel E; Fitzpatrick DL; Hartnell LM; Anikster Y; Gahl WA
    Pediatr Res; 2002 Feb; 51(2):150-8. PubMed ID: 11809908
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
    Vincent LM; Adams D; Hess RA; Ziegler SG; Tsilou E; Golas G; O'Brien KJ; White JG; Huizing M; Gahl WA
    Mol Genet Metab; 2009 Jul; 97(3):227-33. PubMed ID: 19398212
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
    Botero JP; Chen D; Majerus JA; Coon LM; He R; Warad DM; Pruthi RK; Nichols WL
    Platelets; 2018 Jan; 29(1):91-94. PubMed ID: 29090612
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
    Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
    J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Hermansky-Pudlak syndrome: Mutation update.
    Huizing M; Malicdan MCV; Wang JA; Pri-Chen H; Hess RA; Fischer R; O'Brien KJ; Merideth MA; Gahl WA; Gochuico BR
    Hum Mutat; 2020 Mar; 41(3):543-580. PubMed ID: 31898847
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
    Santiago Borrero PJ; Rodríguez-Pérez Y; Renta JY; Izquierdo NJ; Del Fierro L; Muñoz D; Molina NL; Ramírez S; Pagán-Mercado G; Ortíz I; Rivera-Caragol E; Spritz RA; Cadilla CL
    J Invest Dermatol; 2006 Jan; 126(1):85-90. PubMed ID: 16417222
    [TBL] [Abstract][Full Text] [Related]  

  • 34. snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.
    Daly CM; Willer J; Gregg R; Gross JM
    Genetics; 2013 Oct; 195(2):481-94. PubMed ID: 23893484
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
    Hermos CR; Huizing M; Kaiser-Kupfer MI; Gahl WA
    Hum Mutat; 2002 Dec; 20(6):482. PubMed ID: 12442288
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
    Wei ML
    Pigment Cell Res; 2006 Feb; 19(1):19-42. PubMed ID: 16420244
    [TBL] [Abstract][Full Text] [Related]  

  • 37. New insights into the pathogenesis of Hermansky-Pudlak syndrome.
    Li W; Hao CJ; Hao ZH; Ma J; Wang QC; Yuan YF; Gong JJ; Chen YY; Yu JY; Wei AH
    Pigment Cell Melanoma Res; 2022 May; 35(3):290-302. PubMed ID: 35129281
    [TBL] [Abstract][Full Text] [Related]  

  • 38. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
    Pennamen P; Le L; Tingaud-Sequeira A; Fiore M; Bauters A; Van Duong Béatrice N; Coste V; Bordet JC; Plaisant C; Diallo M; Michaud V; Trimouille A; Lacombe D; Lasseaux E; Delevoye C; Picard FM; Delobel B; Marks MS; Arveiler B
    Genet Med; 2020 Oct; 22(10):1613-1622. PubMed ID: 32565547
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.
    Sandrock-Lang K; Bartsch I; Buechele N; Koehler U; Simon-Gabriel CP; Eckenweiler M; Zieger B
    Blood Cells Mol Dis; 2017 Sep; 67():75-80. PubMed ID: 28284561
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
    Nazarian R; Falcón-Pérez JM; Dell'Angelica EC
    Proc Natl Acad Sci U S A; 2003 Jul; 100(15):8770-5. PubMed ID: 12847290
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.