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 *

205 related articles for article (PubMed ID: 22499347)

  • 1. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
    Radhakrishna U; Nath SK; McElreavey K; Ratnamala U; Sun C; Maiti AK; Gagnebin M; Béna F; Newkirk HL; Sharp AJ; Everman DB; Murray JC; Schwartz CE; Antonarakis SE; Butler MG
    J Med Genet; 2012 Apr; 49(4):270-6. PubMed ID: 22499347
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
    Kamenarova K; Cherninkova S; Romero Durán M; Prescott D; Valdés Sánchez ML; Mitev V; Kremensky I; Kaneva R; Bhattacharya SS; Tournev I; Chakarova C
    Eur J Hum Genet; 2013 Mar; 21(3):338-42. PubMed ID: 22929024
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1.
    Liu P; Zhang S; Yao Q; Liu X; Wang X; Huang C; Huang X; Wang P; Yuan M; Liu JY; Wang QK; Liu M
    Hum Genet; 2008 Jun; 123(5):507-13. PubMed ID: 18443824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD; Patterson B; Craig JE; Russell-Eggitt IM; Wirth MG; Burdon KP; Hewitt AW; Cohn AC; Kerdraon Y; Mackey DA
    Br J Ophthalmol; 2005 Jul; 89(7):831-4. PubMed ID: 15965161
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.
    Bisulli F; Naldi I; Baldassari S; Magini P; Licchetta L; Castegnaro G; Fabbri M; Stipa C; Ferrari S; Seri M; Gonçalves Silva GE; Tinuper P; Pippucci T
    Epilepsia; 2014 Jun; 55(6):841-8. PubMed ID: 24579982
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genome-wide linkage scan, fine mapping, and haplotype analysis in a large, inbred, Arab Israeli pedigree suggest a schizophrenia susceptibility locus on chromosome 20p13.
    Teltsh O; Kanyas K; Karni O; Levi A; Korner M; Ben-Asher E; Lancet D; Hamdan A; Lerer B; Kohn Y
    Am J Med Genet B Neuropsychiatr Genet; 2008 Mar; 147B(2):209-15. PubMed ID: 17823922
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Micro chromosomal deletions at the NYS7 locus and autosomal dominant nystagmus.
    Hecht I; Weiner C; Kotlyar A; Shoshany N; Pras E
    Exp Eye Res; 2023 May; 230():109459. PubMed ID: 37001852
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
    Beiraghi S; Nath SK; Gaines M; Mandhyan DD; Hutchings D; Ratnamala U; McElreavey K; Bartoloni L; Antonarakis GS; Antonarakis SE; Radhakrishna U
    Am J Hum Genet; 2007 Jul; 81(1):180-8. PubMed ID: 17564975
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.
    Lin MW; Lee DD; Lin CH; Huang CY; Wong CK; Chang YT; Liu HN; Hsiao KJ; Tsai SF
    Br J Dermatol; 2005 Jan; 152(1):29-36. PubMed ID: 15656797
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India.
    Holliday EG; Nyholt DR; Tirupati S; John S; Ramachandran P; Ramamurti M; Ramadoss AJ; Jeyagurunathan A; Kottiswaran S; Smith HJ; Filippich C; Nertney DA; Nancarrow DJ; Hayward NK; Watkins WS; Jorde LB; Thara R; Mowry BJ
    Am J Psychiatry; 2009 Feb; 166(2):206-15. PubMed ID: 18829870
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
    Shen Y; Si N; Liu Z; Liu F; Meng X; Zhang Y; Zhang X
    Orphanet J Rare Dis; 2018 Jul; 13(1):106. PubMed ID: 29970136
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.
    Chen CP; Lin CJ; Chen YY; Wang LK; Chern SR; Wu PS; Su JW; Chen LF; Town DD; Pan CW; Wang W
    Gene; 2013 Dec; 532(1):80-6. PubMed ID: 24055486
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
    Fingert JH; Robin AL; Stone JL; Roos BR; Davis LK; Scheetz TE; Bennett SR; Wassink TH; Kwon YH; Alward WL; Mullins RF; Sheffield VC; Stone EM
    Hum Mol Genet; 2011 Jun; 20(12):2482-94. PubMed ID: 21447600
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
    van de Meerakker JB; van Engelen K; Mathijssen IB; Lekanne dit Deprez RH; Lam J; Wilde AA; Baars MJ; Mannens MM; Mulder BJ; Moorman AF; Postma AV
    Eur J Hum Genet; 2011 Jul; 19(7):820-6. PubMed ID: 21386876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
    Gajecka M; Radhakrishna U; Winters D; Nath SK; Rydzanicz M; Ratnamala U; Ewing K; Molinari A; Pitarque JA; Lee K; Leal SM; Bejjani BA
    Invest Ophthalmol Vis Sci; 2009 Apr; 50(4):1531-9. PubMed ID: 19011015
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
    Mei M; Yang L; Zhan G; Wang H; Ma D; Zhou W; Huang G
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):460-3. PubMed ID: 25190168
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chromosome 2p14 is linked to susceptibility to leprosy.
    Yang Q; Liu H; Low HQ; Wang H; Yu Y; Fu X; Yu G; Chen M; Yan X; Chen S; Huang W; Liu J; Zhang F
    PLoS One; 2012; 7(1):e29747. PubMed ID: 22238647
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36.
    Paterson AD; Liu XQ; Wang K; Magistroni R; Song X; Kappel J; Klassen J; Cattran D; St George-Hyslop P; Pei Y
    J Am Soc Nephrol; 2007 Aug; 18(8):2408-15. PubMed ID: 17634434
    [TBL] [Abstract][Full Text] [Related]  

  • 19. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the
    Bowne SJ; Sullivan LS; Wheaton DK; Locke KG; Jones KD; Koboldt DC; Fulton RS; Wilson RK; Blanton SH; Birch DG; Daiger SP
    Mol Vis; 2016; 22():1239-1247. PubMed ID: 27777503
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
    Cipriani V; Kalhoro A; Arno G; Silva RS; Pontikos N; Puech V; McClements ME; Hunt DM; van Heyningen V; Michaelides M; Webster AR; Moore AT; Puech B
    Ophthalmic Genet; 2017 Dec; 38(6):511-519. PubMed ID: 28635424
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.