These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 23387234)

  • 21. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
    Tuttolomondo A; Duro G; Miceli S; Di Raimondo D; Pecoraro R; Serio A; Albeggiani G; Nuzzo D; Iemolo F; Pizzo F; Sciarrino S; Licata G; Pinto A
    Clin Biochem; 2012 Nov; 45(16-17):1525-30. PubMed ID: 22820434
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and molecular characterization of an extended family with Fabry disease.
    Wattanasirichaigoon D; Svasti J; Cairns JR; Tangnararatchakit K; Visudtibhan A; Keeratichamroen S; Ngiwsara L; Khowsathit P; Onkoksoong T; Lekskul A; Mongkolsiri D; Jariengprasert C; Thawil C; Ruencharoen S
    J Med Assoc Thai; 2006 Sep; 89(9):1528-35. PubMed ID: 17100396
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
    Tuttolomondo A; Duro G; Pecoraro R; Simonetta I; Miceli S; Colomba P; Zizzo C; Di Chiara T; Scaglione R; Della Corte V; Corpora F; Pinto A
    Clin Biochem; 2015 Jan; 48(1-2):55-62. PubMed ID: 25281798
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.
    Peng Y; Pan M; Wang Y; Shen Z; Xu J; Xiong F; Xiao H; Miao Y
    Ren Fail; 2024 Dec; 46(2):2362391. PubMed ID: 38847497
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B; Topçu M; Ozkara HA
    Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
    Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
    Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
    Okumiya T; Kawamura O; Itoh K; Kase R; Ishii S; Kamei S; Sakuraba H
    Hum Mutat; 1998; Suppl 1():S213-6. PubMed ID: 9452090
    [No Abstract]   [Full Text] [Related]  

  • 29. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
    Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
    Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.
    Wang C; Wang Y; Zhu F; Xiong J
    Kidney Blood Press Res; 2013; 37(4-5):221-8. PubMed ID: 23867994
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
    San Román-Monserrat I; Moreno-Flores V; López-Cuenca D; Rodríguez-González-Herrero E; Guillén-Navarro E; Rodríguez-González-Herrero B; Alegría-Fernández M; Poza-Cisneros G; Piñero-Fernández JA; Sornichero-Martínez J; Gimeno-Blanes JR
    Med Clin (Barc); 2014 Jun; 142(11):497-504. PubMed ID: 24679964
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
    Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].
    Liu HJ; Cao KJ; Li CR; Dai J; Ma JZ; Yong YH; Sun W
    Zhonghua Xin Xue Guan Bing Za Zhi; 2006 Feb; 34(2):143-7. PubMed ID: 16626582
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
    Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
    Takahashi N; Yokoi S; Kasuno K; Kogami A; Tsukimura T; Togawa T; Saito S; Ohno K; Hara M; Kurosawa H; Hirayama Y; Kurose T; Yokoyama Y; Mikami D; Kimura H; Naiki H; Sakuraba H; Iwano M
    Clin Nephrol; 2015 May; 83(5):301-8. PubMed ID: 25295576
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
    Verovnik F; Benko D; Vujkovac B; Linthorst GE
    Eur J Hum Genet; 2004 Aug; 12(8):678-81. PubMed ID: 15162124
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M; Higuchi K; Miyata M; Devine S; Mattman A; Sirrs S; Medin JA; Tei C; Takenaka T
    J Cardiol; 2011 May; 57(3):345-53. PubMed ID: 21333496
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical, histological and molecular characteristics of Mexican patients with Fabry disease and significant renal involvement.
    Ramos-Kuri M; Olvera D; Morales JJ; Rodriguez-Espino BA; Lara-Mejía A; De Los Ríos D; Obrador GT; Granados J; Correa-Rotter R
    Arch Med Res; 2014 Apr; 45(3):257-62. PubMed ID: 24656905
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
    Zizzo C; Monte I; Pisani A; Fatuzzo P; Riccio E; Rodolico MS; Colomba P; Uva M; Cammarata G; Alessandro R; Iemolo F; Duro G
    Gene; 2016 Mar; 578(1):100-4. PubMed ID: 26691501
    [TBL] [Abstract][Full Text] [Related]  

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