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 *

199 related articles for article (PubMed ID: 19694028)

  • 61. A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.
    Daimon M; Gojyou E; Sugawara M; Yamatani K; Tominaga M; Sasaki H
    Hum Genet; 1997 Feb; 99(2):199-201. PubMed ID: 9048920
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.
    Tzagkaraki E; Christalena S; Helen F; Argyris D; Ariadni M; Emmanuel K
    Hum Genet; 2009 Aug; 126(2):331. PubMed ID: 19693993
    [No Abstract]   [Full Text] [Related]  

  • 63. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
    Lamoril J; Puy H; Whatley SD; Martin C; Woolf JR; Da Silva V; Deybach JC; Elder GH
    Am J Hum Genet; 2001 May; 68(5):1130-8. PubMed ID: 11309681
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Three novel mutations in the coproporphyrinogen oxidase gene.
    Lamoril J; Deybach JC; Puy H; Grandchamp B; Nordmann Y
    Hum Mutat; 1997; 9(1):78-80. PubMed ID: 8990017
    [No Abstract]   [Full Text] [Related]  

  • 65. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
    Lamoril J; Martasek P; Deybach JC; Da Silva V; Grandchamp B; Nordmann Y
    Hum Mol Genet; 1995 Feb; 4(2):275-8. PubMed ID: 7757079
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.
    Cacheux V; Martasek P; Fougerousse F; Delfau MH; Druart L; Tachdjian G; Grandchamp B
    Hum Genet; 1994 Nov; 94(5):557-9. PubMed ID: 7959694
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Otolano S; Parente P; San Millán B; Navarro C
    Hum Genet; 2009 Apr; 125(3):352. PubMed ID: 19320040
    [No Abstract]   [Full Text] [Related]  

  • 68. Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.
    Cheah PY; Wong YH; Loi C; Koh PK; Eu KW
    Hum Genet; 2009 Apr; 125(3):352. PubMed ID: 19320041
    [No Abstract]   [Full Text] [Related]  

  • 69. Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
    Aguirre-Lamban J; Riveiro-Alvarez R; Cantalapiedra D; Avila-Fernandez A; Vallespin E; Villaverde-Montero C; Gomez-Dominguez B; Auz-Alexandre CL; Trujillo-Tiebas MJ; Ayuso C
    Hum Genet; 2009 Aug; 126(2):330. PubMed ID: 19693992
    [No Abstract]   [Full Text] [Related]  

  • 70. Novel human pathological mutations. Gene symbol: HBA1. Disease: haemoglobin variant.
    Refaldi C; Gensini F; Cappellini MD
    Hum Genet; 2009 Aug; 126(2):343. PubMed ID: 19694032
    [No Abstract]   [Full Text] [Related]  

  • 71. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; San Millán B; Navarro C
    Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320035
    [No Abstract]   [Full Text] [Related]  

  • 72. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Millán BS; Navarro C
    Hum Genet; 2009 Apr; 125(3):343. PubMed ID: 19320018
    [No Abstract]   [Full Text] [Related]  

  • 73. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Millán BS; Navarro C
    Hum Genet; 2009 Apr; 125(3):339. PubMed ID: 19309786
    [No Abstract]   [Full Text] [Related]  

  • 74. Comment on: "A cascade analysis of the interaction of mercury and coproporphyrinogen oxidase (CPOX) polymorphism on the heme biosynthetic pathway and porphyrin production" by Heyer et al. [Toxicol. Lett. 161 (2006) 159-166].
    Björkman L; Vahter M
    Toxicol Lett; 2007 Feb; 169(1):91-2; author reply 93-4. PubMed ID: 17215094
    [No Abstract]   [Full Text] [Related]  

  • 75. A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.
    Gross U; Puy H; Meissauer U; Lamoril J; Deybach JC; Doss M; Nordmann Y; Doss MO
    J Inherit Metab Dis; 2002 Aug; 25(4):279-86. PubMed ID: 12227458
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Chien YH; Hwu WL
    Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309781
    [No Abstract]   [Full Text] [Related]  

  • 77. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S; Moriondo V; Marchini S; Besana V; Di Pierro E; Brancaleoni V; Ventura P; Rocchi E; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320019
    [No Abstract]   [Full Text] [Related]  

  • 78. Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasis.
    Ellison J
    Hum Genet; 2009 Apr; 125(3):333. PubMed ID: 19309776
    [No Abstract]   [Full Text] [Related]  

  • 79. Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
    Auz-Alexandre CL; Vallespin E; Aguirre-Lamban J; Cantalapiedra D; Avila-Fernandez A; Villaverde-Montero C; Ainse E; Trujillo-Tiebas MJ; Ayuso C
    Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320033
    [No Abstract]   [Full Text] [Related]  

  • 80. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
    Hasegawa K; Tanaka H; Yamashita M; Higuchi Y; Miyai T; Yoshimoto J; Okada A; Suzuki N; Iwatsuki K; Tsukahara H
    JIMD Rep; 2017; 37():99-106. PubMed ID: 28349448
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.