BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 8710776)

  • 21. Prenatal diagnosis of cystic fibrosis by chorionic villus sampling using 12 polymorphic deoxyribonucleic acid markers.
    Nugent CE; Gravius T; Green P; Larsen JW; MacMillin MD; Donis-Keller H
    Obstet Gynecol; 1988 Feb; 71(2):213-5. PubMed ID: 3422111
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
    Laporte J; Kioschis P; Hu LJ; Kretz C; Carlsson B; Poustka A; Mandel JL; Dahl N
    Genomics; 1997 May; 41(3):458-62. PubMed ID: 9169146
    [TBL] [Abstract][Full Text] [Related]  

  • 23. X-linked centronuclear myopathy: mapping the gene to Xq28.
    Liechti-Gallati S; Müller B; Grimm T; Kress W; Müller C; Boltshauser E; Moser H; Braga S
    Neuromuscul Disord; 1991; 1(4):239-45. PubMed ID: 1822801
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
    Buj-Bello A; Biancalana V; Moutou C; Laporte J; Mandel JL
    Hum Mutat; 1999; 14(4):320-5. PubMed ID: 10502779
    [TBL] [Abstract][Full Text] [Related]  

  • 25. RFLPs tightly linked with cystic fibrosis: value of probes at the D7S23 locus in prenatal diagnosis.
    Vasseur F; Flactif M; Savary JB; Turpin D; Deminatti MM
    Ann Genet; 1989; 32(2):78-81. PubMed ID: 2569290
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
    Biancalana V; Caron O; Gallati S; Baas F; Kress W; Novelli G; D'Apice MR; Lagier-Tourenne C; Buj-Bello A; Romero NB; Mandel JL
    Hum Genet; 2003 Feb; 112(2):135-42. PubMed ID: 12522554
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family.
    Yapijakis C; Kapaki E; Boussiou M; Vassilopoulos D; Papageorgiou C
    Prenat Diagn; 1996 Mar; 16(3):262-5. PubMed ID: 8710782
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
    Dahl N; Hu LJ; Chery M; Fardeau M; Gilgenkrantz S; Nivelon-Chevallier A; Sidaner-Noisette I; Mugneret F; Gouyon JB; Gal A
    Am J Hum Genet; 1995 May; 56(5):1108-15. PubMed ID: 7726166
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genetic linkage heterogeneity in myotubular myopathy.
    Samson F; Mesnard L; Heimburger M; Hanauer A; Chevallay M; Mercadier JJ; Pelissier JF; Feingold N; Junien C; Mandel JL
    Am J Hum Genet; 1995 Jul; 57(1):120-6. PubMed ID: 7611280
    [TBL] [Abstract][Full Text] [Related]  

  • 30. First prenatal diagnosis of X-linked lymphoproliferative disease.
    Skare J; Madan S; Glaser J; Purtilo D; Nitowsky H; Pulijaal V; Milunsky A
    Am J Med Genet; 1992 Sep; 44(1):79-81. PubMed ID: 1355632
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Tsai TC; Horinouchi H; Noguchi S; Minami N; Murayama K; Hayashi YK; Nonaka I; Nishino I
    Neuromuscul Disord; 2005 Mar; 15(3):245-52. PubMed ID: 15725586
    [TBL] [Abstract][Full Text] [Related]  

  • 32. X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
    Lehesjoki AE; Sankila EM; Miao J; Somer M; Salonen R; Rapola J; de la Chapelle A
    J Med Genet; 1990 May; 27(5):288-91. PubMed ID: 1972196
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis.
    Wright CF; Burton H
    Hum Reprod Update; 2009; 15(1):139-51. PubMed ID: 18945714
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
    Malpuech G; Dastugue B; Giraud G; Jouanel P; Vanlieferinghen P; Carla H
    J Genet Hum; 1989 Jun; 37(2):155-62. PubMed ID: 2545811
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Myotubular myopathy].
    Guiraud-Chaumeil C; Laporte J; Mandel JL; Warter JM
    Rev Neurol (Paris); 2000 Nov; 156(11):960-4. PubMed ID: 11119047
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
    Percesepe A; Ferrari M; Coviello D; Zanussi M; Castagni M; Neri I; Travi M; Forabosco A; Tedeschi S
    Prenat Diagn; 2005 Nov; 25(11):1011-4. PubMed ID: 16231306
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Carrier detection and prenatal diagnosis in families with haemophilia.
    Shetty S; Ghosh K; Bhide A; Mohanty D
    Natl Med J India; 2001; 14(2):81-3. PubMed ID: 11396323
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
    Zerres K; Mücher G; Becker J; Steinkamm C; Rudnik-Schöneborn S; Heikkilä P; Rapola J; Salonen R; Germino GG; Onuchic L; Somlo S; Avner ED; Harman LA; Stockwin JM; Guay-Woodford LM
    Am J Med Genet; 1998 Mar; 76(2):137-44. PubMed ID: 9511976
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Genetic diagnosis of inborn error of metabolism by microsatellite marker analysis].
    Kure S
    Rinsho Byori; 1996 Feb; 44(2):116-9. PubMed ID: 8851192
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
    Cormand B; Montfort M; Chabás A; Grinberg D; Vilageliu LL
    Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036
    [TBL] [Abstract][Full Text] [Related]  

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