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 *

145 related articles for article (PubMed ID: 8023839)

  • 1. Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
    Rudnik-Schöneborn S; Wirth B; Zerres K
    Am J Hum Genet; 1994 Jul; 55(1):112-9. PubMed ID: 8023839
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
    Rudnik-Schöneborn S; Röhrig D; Morgan G; Wirth B; Zerres K
    Am J Med Genet; 1994 May; 51(1):70-6. PubMed ID: 8030672
    [TBL] [Abstract][Full Text] [Related]  

  • 3. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.
    Kausch K; Müller CR; Grimm T; Ricker K; Rietschel M; Rudnik-Schöneborn S; Zerres K
    Hum Genet; 1991 Jan; 86(3):317-8. PubMed ID: 1997389
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.
    Sheth P; Abdelhak S; Bachelot MF; Burlet P; Masset M; Hillaire D; Clerget-Darpoux F; Frézal J; Lathrop GM; Munnich A
    Am J Hum Genet; 1991 Apr; 48(4):764-8. PubMed ID: 2014799
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
    Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
    Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
    Brzustowicz LM; Wang CH; Matseoane D; Kleyn PW; Vitale E; Das K; Penchaszadeh GK; Munsat TL; Hausmanowa-Petrusewicz I; Gilliam TC
    Am J Hum Genet; 1995 Jan; 56(1):210-5. PubMed ID: 7825580
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Different entities of proximal spinal muscular atrophy within one family.
    Wirth B; Tessarolo D; Hahnen E; Rudnik-Schöneborn S; Raschke H; Liguori M; Giacanelli M; Zerres K
    Hum Genet; 1997 Oct; 100(5-6):676-80. PubMed ID: 9341891
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.
    Brzustowicz LM; Mérette C; Kleyn PW; Lehner T; Castilla LH; Penchaszadeh GK; Das K; Munsat TL; Ott J; Gilliam TC
    Hum Hered; 1993; 43(6):380-7. PubMed ID: 7904586
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
    Gilliam TC; Brzustowicz LM; Castilla LH; Lehner T; Penchaszadeh GK; Daniels RJ; Byth BC; Knowles J; Hislop JE; Shapira Y
    Nature; 1990 Jun; 345(6278):823-5. PubMed ID: 1972783
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
    Brzustowicz LM; Lehner T; Castilla LH; Penchaszadeh GK; Wilhelmsen KC; Daniels R; Davies KE; Leppert M; Ziter F; Wood D
    Nature; 1990 Apr; 344(6266):540-1. PubMed ID: 2320125
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.
    Melki J; Sheth P; Abdelhak S; Burlet P; Bachelot MF; Lathrop MG; Frezal J; Munnich A
    Lancet; 1990 Aug; 336(8710):271-3. PubMed ID: 1973971
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
    Peeters K; Litvinenko I; Asselbergh B; Almeida-Souza L; Chamova T; Geuens T; Ydens E; Zimoń M; Irobi J; De Vriendt E; De Winter V; Ooms T; Timmerman V; Tournev I; Jordanova A
    Am J Hum Genet; 2013 Jun; 92(6):955-64. PubMed ID: 23664119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.
    Wirth B; Pick E; Leutner A; Dadze A; Voosen B; Knapp M; Piechaczek-Wappenschmidt B; Rudnik-Schöneborn S; Schönling J; Cox S
    Genomics; 1994 Mar; 20(1):84-93. PubMed ID: 7912691
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
    Harms MB; Allred P; Gardner R; Fernandes Filho JA; Florence J; Pestronk A; Al-Lozi M; Baloh RH
    Neurology; 2010 Aug; 75(6):539-46. PubMed ID: 20697106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal prediction of spinal muscular atrophy.
    Daniels RJ; Suthers GK; Morrison KE; Thomas NH; Francis MJ; Mathew CG; Loughlin S; Heiberg A; Wood D; Dubowitz V
    J Med Genet; 1992 Mar; 29(3):165-70. PubMed ID: 1348091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical-genetic studies of infantile and juvenile proximal spinal muscular atrophy].
    Lusakowska A; Penchaszadech G; Badurska B; Borkowska J; Hausmanowa-Petrusewicz I
    Neurol Neurochir Pol; 1994; 28(1 Suppl 1):91-102. PubMed ID: 8065545
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
    Wirth B; Rudnik-Schöneborn S; Hahnen E; Röhrig D; Zerres K
    Prenat Diagn; 1995 May; 15(5):407-17. PubMed ID: 7644431
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.
    Müller B; Melki J; Burlet P; Clerget-Darpoux F
    Am J Hum Genet; 1992 May; 50(5):892-5. PubMed ID: 1570842
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Linkage mapping of the spinal muscular atrophy gene.
    Burghes AH; Ingraham SE; Kóte-Jarai Z; Rosenfeld S; Herta N; Nadkarni N; DiDonato CJ; Carpten J; Hurko O; Florence J
    Hum Genet; 1994 Mar; 93(3):305-12. PubMed ID: 8125483
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.
    Melki J; Burlet P; Clermont O; Pascal F; Paul B; Abdelhak S; Sherrington R; Gurling H; Nakamura Y; Weissenbach J
    Genomics; 1993 Mar; 15(3):521-4. PubMed ID: 8096827
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.