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 *

164 related articles for article (PubMed ID: 8298739)

  • 1. Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family.
    Aughton DJ
    Clin Dysmorphol; 1993 Jan; 2(1):55-61. PubMed ID: 8298739
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
    Heyne K; Shin YS; Schwinger E
    Monatsschr Kinderheilkd; 1988 Dec; 136(12):828-30. PubMed ID: 2853298
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
    Schmidt D; Shin YS; Auw-Haedrich C; Tacke U
    Acta Ophthalmol; 2011 Aug; 89(5):489-94. PubMed ID: 20222886
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Galactosemia].
    Grodzka Z; Zbieg-Sendecka E
    Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
    Nijland R; Hartog FE; Wevers RA; Wanders RJ; Willemsen WN
    J Pediatr Adolesc Gynecol; 2009 Aug; 22(4):229-31. PubMed ID: 19646668
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.
    Benson PF; Brandt NJ; Christensen E; Fensom AH
    Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay.
    Davee MA; Moore CA; Bull MJ; Hodes ME
    Am J Med Genet; 1992 Oct; 44(3):293-6. PubMed ID: 1283287
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.
    Christensen E; Brandt NJ
    J Inherit Metab Dis; 1978; 1(4):167-9. PubMed ID: 117252
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
    Zenteno JC; Carranza-Lira S; Kofman-Alfaro S
    Arch Gynecol Obstet; 2004 May; 269(4):270-3. PubMed ID: 15221321
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nested polymerase chain reaction--not ready for gold standard status yet!
    Alvarez-Nava F; Soto M; Fernández E; Zenteno JC
    Fertil Steril; 2004 Nov; 82(5):1471; author reply 1471-2. PubMed ID: 15533387
    [No Abstract]   [Full Text] [Related]  

  • 11. Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
    Pesce MA; Bodourian SH
    Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency].
    Grodzka Z; Zbieg-Sendecka E; Mańkowski T
    Pediatr Pol; 1985 Sep; 60(9):631-7. PubMed ID: 3008074
    [No Abstract]   [Full Text] [Related]  

  • 13. Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant.
    Ng WG; Kline F; Lin J; Koch R; Donnell GN
    J Inherit Metab Dis; 1978; 1(4):145-51. PubMed ID: 117249
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.
    Urioste M; Rodríguez JI; Barcia JM; Martín M; Escribá R; Pardo M; Camino J; Martínez-Frías ML
    Am J Med Genet; 1993 Sep; 47(4):494-503. PubMed ID: 8256813
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome.
    Plevraki E; Kita M; Goulis DG; Hatzisevastou-Loukidou H; Lambropoulos AF; Avramides A
    Fertil Steril; 2004 Mar; 81(3):689-92. PubMed ID: 15037423
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.
    WONGIN NG; BERGREN WR; DONNELL GN
    Nature; 1964 Aug; 203():845-7. PubMed ID: 14204065
    [No Abstract]   [Full Text] [Related]  

  • 17. Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
    Jama M; Nelson L; Pont-Kingdon G; Mao R; Lyon E
    J Mol Diagn; 2007 Nov; 9(5):618-23. PubMed ID: 17884932
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Borderline galactosemia.
    Pettersson R; Dahlqvist A; Hattevig G; Kjellman B
    Acta Paediatr Scand; 1980 Nov; 69(6):735-9. PubMed ID: 7211358
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The persistence of the müllerian duct].
    Vegas Gómez A; Silmi Moyano A; Delgado Martín JA; Blázquez Izquierdo J; Corral Rosillo J; Prados Frutos JC; Paramo González P; Resel Estévez L
    Arch Esp Urol; 1999 Jun; 52(5):513-7. PubMed ID: 10427890
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mouse model of galactose-1-phosphate uridyl transferase deficiency.
    Leslie ND; Yager KL; McNamara PD; Segal S
    Biochem Mol Med; 1996 Oct; 59(1):7-12. PubMed ID: 8902187
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.