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 *

150 related articles for article (PubMed ID: 12185364)

  • 1. Mutant deoxynucleotide carrier is associated with congenital microcephaly.
    Rosenberg MJ; Agarwala R; Bouffard G; Davis J; Fiermonte G; Hilliard MS; Koch T; Kalikin LM; Makalowska I; Morton DH; Petty EM; Weber JL; Palmieri F; Kelley RI; Schäffer AA; Biesecker LG
    Nat Genet; 2002 Sep; 32(1):175-9. PubMed ID: 12185364
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
    Kelley RI; Robinson D; Puffenberger EG; Strauss KA; Morton DH
    Am J Med Genet; 2002 Nov; 112(4):318-26. PubMed ID: 12376931
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Amish microcephaly: Long-term survival and biochemical characterization.
    Siu VM; Ratko S; Prasad AN; Prasad C; Rupar CA
    Am J Med Genet A; 2010 Jul; 152A(7):1747-51. PubMed ID: 20583149
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.
    Wallerman O; Van Eeghen A; Ten Kate LP; Wadelius C
    Hereditas; 2003; 139(1):64-7. PubMed ID: 14641475
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).
    Iacobazzi V; Ventura M; Fiermonte G; Prezioso G; Rocchi M; Palmieri F
    Cytogenet Cell Genet; 2001; 93(1-2):40-2. PubMed ID: 11474176
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
    Lindhurst MJ; Fiermonte G; Song S; Struys E; De Leonardis F; Schwartzberg PL; Chen A; Castegna A; Verhoeven N; Mathews CK; Palmieri F; Biesecker LG
    Proc Natl Acad Sci U S A; 2006 Oct; 103(43):15927-32. PubMed ID: 17035501
    [TBL] [Abstract][Full Text] [Related]  

  • 7. What's new in neurogenetics? Amish microcephaly.
    Korf BR
    Eur J Paediatr Neurol; 2003; 7(6):393-4. PubMed ID: 14623217
    [No Abstract]   [Full Text] [Related]  

  • 8. A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.
    Hassan MJ; Chishti MS; Jamal SM; Tariq M; Ahmad W
    Hum Genet; 2008 Feb; 123(1):77-82. PubMed ID: 18071751
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
    Hussain MS; Baig SM; Neumann S; Nürnberg G; Farooq M; Ahmad I; Alef T; Hennies HC; Technau M; Altmüller J; Frommolt P; Thiele H; Noegel AA; Nürnberg P
    Am J Hum Genet; 2012 May; 90(5):871-8. PubMed ID: 22521416
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
    Moynihan L; Jackson AP; Roberts E; Karbani G; Lewis I; Corry P; Turner G; Mueller RF; Lench NJ; Woods CG
    Am J Hum Genet; 2000 Feb; 66(2):724-7. PubMed ID: 10677332
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N; Goebel I; Daud S; Nürnberg G; Agha N; Ahmad A; Nürnberg P; Kubisch C; Ahmad J; Borck G
    Eur J Med Genet; 2012 Dec; 55(12):727-31. PubMed ID: 22989526
    [TBL] [Abstract][Full Text] [Related]  

  • 12. AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.
    Li D; Jin C; Jiao X; Li L; Bushra T; Naeem MA; Butt NH; Husnain T; Sieving PA; Riazuddin S; Riazuddin SA; Hejtmancik JF
    Mol Vis; 2014; 20():1-14. PubMed ID: 24426771
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35.
    Badenhop RF; Moses MJ; Scimone A; Adams LJ; Kwok JB; Jones AM; Davison G; Evans MR; Kirkby KC; Hewitt JE; Donald JA; Mitchell PB; Schofield PR
    Am J Med Genet B Neuropsychiatr Genet; 2003 Feb; 117B(1):23-32. PubMed ID: 12555231
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
    Sulisalo T; Francomano CA; Sistonen P; Maher JF; McKusick VA; de la Chapelle A; Kaitila I
    Genomics; 1994 Apr; 20(3):347-53. PubMed ID: 8034306
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
    Hoffman HM; Gregory SG; Mueller JL; Tresierras M; Broide DH; Wanderer AA; Kolodner RD
    Hum Genet; 2003 Feb; 112(2):209-16. PubMed ID: 12522564
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
    Jamieson CR; Fryns JP; Jacobs J; Matthijs G; Abramowicz MJ
    Am J Hum Genet; 2000 Dec; 67(6):1575-7. PubMed ID: 11067780
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
    Kavaslar GN; Onengüt S; Derman O; Kaya A; Tolun A
    Am J Hum Genet; 2000 May; 66(5):1705-9. PubMed ID: 10762554
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
    Vervoort VS; Viljoen D; Smart R; Suthers G; DuPont BR; Abbott A; Schwartz CE
    J Med Genet; 2002 Dec; 39(12):893-9. PubMed ID: 12471201
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
    Jackson AP; McHale DP; Campbell DA; Jafri H; Rashid Y; Mannan J; Karbani G; Corry P; Levene MI; Mueller RF; Markham AF; Lench NJ; Woods CG
    Am J Hum Genet; 1998 Aug; 63(2):541-6. PubMed ID: 9683597
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
    Spiegel R; Shaag A; Edvardson S; Mandel H; Stepensky P; Shalev SA; Horovitz Y; Pines O; Elpeleg O
    Ann Neurol; 2009 Sep; 66(3):419-24. PubMed ID: 19798730
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.