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 *

109 related articles for article (PubMed ID: 9635293)

  • 21. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
    Korman SH; Pitt JJ; Boneh A; Dweikat I; Zater M; Meiner V; Gutman A; Brivet M
    Mol Genet Metab; 2006 Dec; 89(4):332-8. PubMed ID: 16919490
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fumarase deficiency presenting with periventricular cysts.
    Loeffen J; Smeets R; Voit T; Hoffmann G; Smeitink J
    J Inherit Metab Dis; 2005; 28(5):799-800. PubMed ID: 16151915
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C; Benoist JF; Pereira S; Callebaut I; Koskas T; Porquet D; Elion J
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Fumarase deficiency].
    Naito E
    Ryoikibetsu Shokogun Shirizu; 2001; (36):107-10. PubMed ID: 11596337
    [No Abstract]   [Full Text] [Related]  

  • 25. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
    Morrone A; Malvagia S; Donati MA; Funghini S; Ciani F; Pela I; Boneh A; Peters H; Pasquini E; Zammarchi E
    Am J Med Genet; 2002 Jul; 111(1):10-8. PubMed ID: 12124727
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
    States JC; McDuffie ER; Myrand SP; McDowell M; Cleaver JE
    Hum Mutat; 1998; 12(2):103-13. PubMed ID: 9671271
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.
    Vysokovsky A; Saxena R; Landau M; Zivelin A; Eskaraev R; Rosenberg N; Seligsohn U; Inbal A
    J Thromb Haemost; 2004 Oct; 2(10):1790-7. PubMed ID: 15456491
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
    Climent C; García-Pérez MA; Sanjurjo P; Ruiz-Sanz JI; Vilaseca MA; Pineda M; Campistol J; Rubio V
    Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
    Wakazono A; Fukao T; Yamaguchi S; Hori T; Orii T; Lambert M; Mitchell GA; Lee GW; Hashimoto T
    Hum Mutat; 1995; 5(1):34-42. PubMed ID: 7728148
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Fumarate hydratase deficiency in monozygotic twins.
    Phillips TM; Gibson JB; Ellison DA
    Pediatr Neurol; 2006 Aug; 35(2):150-3. PubMed ID: 16876016
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
    Castaman G; Giacomelli SH; Ivaskevicius V; Schroeder V; Kohler HP; Dragani A; Biasioli C; Oldenburg J; Madeo D; Rodeghiero F
    Haemophilia; 2008 Jan; 14(1):96-102. PubMed ID: 18028394
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H; Ogasawara M; Matsubara Y; Kikuchi M; Miyabayashi S; Kure S; Narisawa K
    J Hum Genet; 1999; 44(1):35-9. PubMed ID: 9929975
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
    Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
    Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of a familial mutation associated with GABA-transaminase deficiency disease.
    Medina-Kauwe LK; Nyhan WL; Gibson KM; Tobin AJ
    Neurobiol Dis; 1998 Aug; 5(2):89-96. PubMed ID: 9746906
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
    Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ; Mallory JM; Roe DS; Brivet M; Strobel GD; Jones KM; Ding JH; Roe CR
    Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
    Dobrowolski SF; McKinney JT; Amat di San Filippo C; Giak Sim K; Wilcken B; Longo N
    Hum Mutat; 2005 Mar; 25(3):306-13. PubMed ID: 15714519
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
    Linnebank M; Tschiedel E; Häberle J; Linnebank A; Willenbring H; Kleijer WJ; Koch HG
    Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C; Rubio V
    Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
    Mroch AR; Laudenschlager M; Flanagan JD
    Am J Med Genet A; 2012 Jan; 158A(1):155-8. PubMed ID: 22069215
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.