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 *

83 related articles for article (PubMed ID: 16117785)

  • 1. Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.
    Mizrachi-Koren M; Geiger D; Indelman M; Bitterman-Deutsch O; Bergman R; Sprecher E
    J Invest Dermatol; 2005 Sep; 125(3):456-62. PubMed ID: 16117785
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.
    Parmentier L; Lakhdar H; Blanchet-Bardon C; Marchand S; Dubertret L; Weissenbach J
    Hum Mol Genet; 1996 Apr; 5(4):555-9. PubMed ID: 8845852
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.
    Funayama M; Hasegawa K; Kowa H; Saito M; Tsuji S; Obata F
    Ann Neurol; 2002 Mar; 51(3):296-301. PubMed ID: 11891824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
    Lefèvre C; Bouadjar B; Ferrand V; Tadini G; Mégarbané A; Lathrop M; Prud'homme JF; Fischer J
    Hum Mol Genet; 2006 Mar; 15(5):767-76. PubMed ID: 16436457
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
    Hennies HC; Küster W; Wiebe V; Krebsová A; Reis A
    Am J Hum Genet; 1998 May; 62(5):1052-61. PubMed ID: 9545389
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
    Russell LJ; DiGiovanna JJ; Hashem N; Compton JG; Bale SJ
    Am J Hum Genet; 1994 Dec; 55(6):1146-52. PubMed ID: 7977373
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S; Wali A; Aziz A; Muhammad N; Jelani M; Ahmad W
    Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.
    Bale SJ; Russell LJ; Lee ML; Compton JG; DiGiovanna JJ
    J Invest Dermatol; 1996 Dec; 107(6):808-11. PubMed ID: 8941665
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.
    Weng PL; Sanna-Cherchi S; Hensle T; Shapiro E; Werzberger A; Caridi G; Izzi C; Konka A; Reese AC; Cheng R; Werzberger S; Schlussel RN; Burk RD; Lee JH; Ravazzolo R; Scolari F; Ghiggeri GM; Glassberg K; Gharavi AG
    J Am Soc Nephrol; 2009 Jul; 20(7):1633-40. PubMed ID: 19443636
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
    Hatsell SJ; Stevens H; Jackson AP; Kelsell DP; Zvulunov A
    Br J Dermatol; 2003 Jul; 149(1):174-80. PubMed ID: 12890214
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
    Parmentier L; Clepet C; Boughdene-Stambouli O; Lakhdar H; Blanchet-Bardon C; Dubertret L; Wunderle E; Pulcini F; Fizames C; Weissenbach J
    Eur J Hum Genet; 1999 Jan; 7(1):77-87. PubMed ID: 10094194
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.
    De Sandre-Giovannoli A; Delague V; Hamadouche T; Chaouch M; Krahn M; Boccaccio I; Maisonobe T; Chouery E; Jabbour R; Atweh S; Grid D; Mégarbané A; Lévy N
    J Med Genet; 2005 Mar; 42(3):260-5. PubMed ID: 15744041
    [No Abstract]   [Full Text] [Related]  

  • 13. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
    Shigehara Y; Okuda S; Nemer G; Chedraoui A; Hayashi R; Bitar F; Nakai H; Abbas O; Daou L; Abe R; Sleiman MB; Kibbi AG; Kurban M; Shimomura Y
    Hum Mol Genet; 2016 Oct; 25(20):4484-4493. PubMed ID: 28173123
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
    Russell LJ; DiGiovanna JJ; Rogers GR; Steinert PM; Hashem N; Compton JG; Bale SJ
    Nat Genet; 1995 Mar; 9(3):279-83. PubMed ID: 7773290
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
    Hameed A; Khaliq S; Ismail M; Anwar K; Ebenezer ND; Jordan T; Mehdi SQ; Payne AM; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):629-33. PubMed ID: 10711674
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.
    Giehl KA; Rogers MA; Radivojkov M; Tosti A; de Berker DA; Weinlich G; Schmuth M; Ruzicka T; Eckstein GN
    Br J Dermatol; 2009 Mar; 160(3):527-33. PubMed ID: 19067701
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.
    Credille KM; Minor JS; Barnhart KF; Lee E; Cox ML; Tucker KA; Diegel KL; Venta PJ; Hohl D; Huber M; Dunstan RW
    Br J Dermatol; 2009 Aug; 161(2):265-72. PubMed ID: 19438474
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.
    Venkatesh CP; Pillai VS; Raghunath A; Prakash VS; Vathsala R; Pericak-Vance MA; Kumar A
    Mol Vis; 2002 Aug; 8():294-7. PubMed ID: 12181522
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
    Pigg M; Gedde-Dahl T; Cox D; Hausser I; Anton-Lamprecht I; Dahl N
    Eur J Hum Genet; 1998; 6(6):589-96. PubMed ID: 9887377
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25.
    Ramoz N; Taïeb A; Rueda LA; Montoya LS; Bouadjar B; Favre M; Orth G
    J Invest Dermatol; 2000 Jun; 114(6):1148-53. PubMed ID: 10844558
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.