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 *

174 related articles for article (PubMed ID: 1346078)

  • 1. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
    Ledbetter SA; Kuwano A; Dobyns WB; Ledbetter DH
    Am J Hum Genet; 1992 Jan; 50(1):182-9. PubMed ID: 1346078
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
    Dobyns WB; Reiner O; Carrozzo R; Ledbetter DH
    JAMA; 1993 Dec; 270(23):2838-42. PubMed ID: 7907669
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
    Cardoso C; Leventer RJ; Ward HL; Toyo-Oka K; Chung J; Gross A; Martin CL; Allanson J; Pilz DT; Olney AH; Mutchinick OM; Hirotsune S; Wynshaw-Boris A; Dobyns WB; Ledbetter DH
    Am J Hum Genet; 2003 Apr; 72(4):918-30. PubMed ID: 12621583
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.
    Schwartz CE; Johnson JP; Holycross B; Mandeville TM; Sears TS; Graul EA; Carey JC; Schroer RJ; Phelan MC; Szollar J
    Am J Hum Genet; 1988 Nov; 43(5):597-604. PubMed ID: 2903661
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
    Chong SS; Pack SD; Roschke AV; Tanigami A; Carrozzo R; Smith AC; Dobyns WB; Ledbetter DH
    Hum Mol Genet; 1997 Feb; 6(2):147-55. PubMed ID: 9063734
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.
    Pilz DT; Dalton A; Long A; Jaspan T; Maltby EL; Quarrell OW
    J Med Genet; 1995 Apr; 32(4):275-8. PubMed ID: 7643355
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.
    Kwiatkowski DJ; Aklog L; Ledbetter DH; Morton CC
    Am J Hum Genet; 1990 Mar; 46(3):559-67. PubMed ID: 1968707
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
    vanTuinen P; Dobyns WB; Rich DC; Summers KM; Robinson TJ; Nakamura Y; Ledbetter DH
    Am J Hum Genet; 1988 Nov; 43(5):587-96. PubMed ID: 3189330
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
    De Rijk-van Andel JF; Catsman-Berrevoets CE; Halley DJ; Wesby-van Swaay E; Niermeijer MF; Oostra BA
    Hum Genet; 1991 Aug; 87(4):509-10. PubMed ID: 1879837
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.
    Mantel A; Leonard C; Husson B; Miladi N; Tardieu M; Landrieu P
    Hum Genet; 1994 Jul; 94(1):95-6. PubMed ID: 8034303
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
    Lo Nigro C; Chong CS; Smith AC; Dobyns WB; Carrozzo R; Ledbetter DH
    Hum Mol Genet; 1997 Feb; 6(2):157-64. PubMed ID: 9063735
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
    Reiner O; Carrozzo R; Shen Y; Wehnert M; Faustinella F; Dobyns WB; Caskey CT; Ledbetter DH
    Nature; 1993 Aug; 364(6439):717-21. PubMed ID: 8355785
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular diagnosis of Miller-Dieker syndrome.
    Dobyns WB; Curry CJ; Hoyme HE; Turlington L; Ledbetter DH
    Am J Hum Genet; 1991 Mar; 48(3):584-94. PubMed ID: 1671808
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
    Dobyns WB; Truwit CL; Ross ME; Matsumoto N; Pilz DT; Ledbetter DH; Gleeson JG; Walsh CA; Barkovich AJ
    Neurology; 1999 Jul; 53(2):270-7. PubMed ID: 10430413
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3.
    Honda A; Ono J; Kurahashi H; Mano T; Imai K; Okada S
    Brain Dev; 1998 Apr; 20(3):190-2. PubMed ID: 9628198
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
    Batanian JR; Ledbetter SA; Wolff RK; Nakamura Y; White R; Dobyns WB; Ledbetter DH
    Hum Genet; 1990 Oct; 85(5):555-9. PubMed ID: 2227942
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic factors in lissencephaly syndromes: a review.
    Miny P; Holzgreve W; Horst J
    Childs Nerv Syst; 1993 Nov; 9(7):413-7. PubMed ID: 8306358
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Murine modelling of classical lissencephaly.
    Gambello MJ; Hirotsune S; Wynshaw-Boris A
    Neurogenetics; 1999 Apr; 2(2):77-86. PubMed ID: 10369882
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.
    de Rijk-van Andel JF; Arts WF; Barth PG; Loonen MC
    Dev Med Child Neurol; 1990 Aug; 32(8):707-17. PubMed ID: 2210085
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
    Hirotsune S; Pack SD; Chong SS; Robbins CM; Pavan WJ; Ledbetter DH; Wynshaw-Boris A
    Genome Res; 1997 Jun; 7(6):625-34. PubMed ID: 9199935
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.