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 *

153 related articles for article (PubMed ID: 27799064)

  • 41. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
    Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
    Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
    Elo JM; Yadavalli SS; Euro L; Isohanni P; Götz A; Carroll CJ; Valanne L; Alkuraya FS; Uusimaa J; Paetau A; Caruso EM; Pihko H; Ibba M; Tyynismaa H; Suomalainen A
    Hum Mol Genet; 2012 Oct; 21(20):4521-9. PubMed ID: 22833457
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
    Boyle L; Wamelink MMC; Salomons GS; Roos B; Pop A; Dauber A; Hwa V; Andrew M; Douglas J; Feingold M; Kramer N; Saitta S; Retterer K; Cho MT; Begtrup A; Monaghan KG; Wynn J; Chung WK
    Am J Hum Genet; 2016 Jun; 98(6):1235-1242. PubMed ID: 27259054
    [TBL] [Abstract][Full Text] [Related]  

  • 44. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
    D'Amours G; Langlois M; Mathonnet G; Fetni R; Nizard S; Srour M; Tihy F; Phillips MS; Michaud JL; Lemyre E
    BMC Med Genomics; 2014 Dec; 7():70. PubMed ID: 25539807
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
    BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Personalized medicine approach confirms a milder case of ABAT deficiency.
    Besse A; Petersen AK; Hunter JV; Appadurai V; Lalani SR; Bonnen PE
    Mol Brain; 2016 Dec; 9(1):93. PubMed ID: 27903293
    [TBL] [Abstract][Full Text] [Related]  

  • 47. The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
    Abbasi Y; Jabbari J; Jabbari R; Yang RQ; Risgaard B; Køber L; Haunsø S; Tfelt-Hansen J
    Mol Genet Genomic Med; 2016 Mar; 4(2):135-42. PubMed ID: 27066506
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
    Casey JP; McGettigan P; Lynam-Lennon N; McDermott M; Regan R; Conroy J; Bourke B; O'Sullivan J; Crushell E; Lynch S; Ennis S
    Mol Genet Metab; 2012 Jul; 106(3):351-8. PubMed ID: 22607940
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
    AlMoallem B; Bauwens M; Walraedt S; Delbeke P; De Zaeytijd J; Kestelyn P; Meire F; Janssens S; van Cauwenbergh C; Verdin H; Hooghe S; Kumar Thakur P; Coppieters F; De Leeneer K; Devriendt K; Leroy BP; De Baere E
    Invest Ophthalmol Vis Sci; 2015 Feb; 56(3):1701-10. PubMed ID: 25678693
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
    Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
    Casey JP; Goggin P; McDaid J; White M; Ennis S; Betts DR; Lucas JS; Elnazir B; Lynch SA
    BMC Med Genet; 2015 Jun; 16():45. PubMed ID: 26123568
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
    Dai H; Zhu W; Yuan B; Walley N; Schoch K; Jiang YH; Phillips JA; Jones MS; Liu P; Murdock DR; Burrage LC; Lee B; Rosenfeld JA; Xiao R;
    Hum Mutat; 2022 Dec; 43(12):1816-1823. PubMed ID: 36317458
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
    Domingo-Gallego A; Furlano M; Pybus M; Barraca D; Martínez AB; Mora Muñoz E; Torra R; Ars E
    BMC Nephrol; 2019 Apr; 20(1):126. PubMed ID: 30975089
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Expanding the Clinical Spectrum of
    Hannah-Shmouni F; MacNeil L; Brady L; Nilsson MI; Tarnopolsky M
    Front Neurol; 2019; 10():981. PubMed ID: 31636596
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
    Blackburn PR; Schultz MJ; Lahner CA; Li D; Bhoj E; Fisher LJ; Renaud DL; Kenney A; Ibrahim N; Hashem M; Zain Seidahmed M; Hasadsri L; Schrier Vergano SA; Alkuraya FS; Lanpher BC
    Ann Clin Transl Neurol; 2020 Jun; 7(6):1013-1028. PubMed ID: 32519519
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
    Lee Y; Park S; Lee JS; Kim SY; Cho J; Yoo Y; Lee S; Yoo T; Lee M; Seo J; Lee J; Kneissl J; Lee J; Jeon H; Jeon EY; Hong SE; Kim E; Kim H; Kim WJ; Kim JS; Ko JM; Cho A; Lim BC; Kim WS; Choi M; Chae JH
    Sci Rep; 2020 Jan; 10(1):1413. PubMed ID: 31996704
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.
    Qiao Y; Badduke C; Tang F; Cowieson D; Martell S; Lewis SME; Peñaherrera MS; Robinson WP; Volchuk A; Rajcan-Separovic E
    Am J Med Genet A; 2017 Jul; 173(7):1782-1791. PubMed ID: 28475290
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Biallelic variants in
    Thompson K; Bianchi L; Rastelli F; Piron-Prunier F; Ayciriex S; Besmond C; Hubert L; Barth M; Barbosa IA; Deshpande C; Chitre M; Mehta SG; Wever EJM; Marcorelles P; Donkervoort S; Saade D; Bönnemann CG; Chao KR; Cai C; Iannaccone ST; Dean AF; McFarland R; Vaz FM; Delahodde A; Taylor RW; Rötig A
    HGG Adv; 2022 Apr; 3(2):100097. PubMed ID: 35321494
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
    Kubánek M; Schimerová T; Piherová L; Brodehl A; Krebsová A; Ratnavadivel S; Stanasiuk C; Hansíková H; Zeman J; Paleček T; Houštěk J; Drahota Z; Nůsková H; Mikešová J; Zámečník J; Macek M; Ridzoň P; Malusková J; Stránecký V; Melenovský V; Milting H; Kmoch S
    J Clin Med; 2020 Mar; 9(4):. PubMed ID: 32235386
    [No Abstract]   [Full Text] [Related]  

  • 60. Sudden unexpected death in asymptomatic infants due to PPA2 variants.
    Phoon CKL; Halvorsen M; Goldstein DB; Rabin R; Cecchin F; Crandall L; Devinsky O
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1008. PubMed ID: 31705601
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.