BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 25866352)

  • 1. A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
    Hu J; Sathanoori M; Kochmar S; Azage M; Mann S; Madan-Khetarpal S; Goldstein A; Surti U
    Am J Med Genet A; 2015 Aug; 167A(8):1921-6. PubMed ID: 25866352
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial KANK1 deletion that does not follow expected imprinting pattern.
    Vanzo RJ; Martin MM; Sdano MR; South ST
    Eur J Med Genet; 2013 May; 56(5):256-9. PubMed ID: 23454270
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
    Shi S; Lin S; Chen B; Zhou Y
    Mol Med Rep; 2017 Nov; 16(5):6837-6845. PubMed ID: 28901431
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.
    Furukawa S; Kushima I; Aleksic B; Ozaki N
    Neuropsychopharmacol Rep; 2023 Sep; 43(3):462-466. PubMed ID: 37264739
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
    Maya I; Kahana S; Agmon-Fishman I; Klein C; Matar R; Berger R; Josefsberg SBY; Shohat M; Marom D; Basel-Salmon L; Sagi-Dain L
    Am J Med Genet A; 2021 May; 185(5):1461-1467. PubMed ID: 33619900
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
    Lionel AC; Vaags AK; Sato D; Gazzellone MJ; Mitchell EB; Chen HY; Costain G; Walker S; Egger G; Thiruvahindrapuram B; Merico D; Prasad A; Anagnostou E; Fombonne E; Zwaigenbaum L; Roberts W; Szatmari P; Fernandez BA; Georgieva L; Brzustowicz LM; Roetzer K; Kaschnitz W; Vincent JB; Windpassinger C; Marshall CR; Trifiletti RR; Kirmani S; Kirov G; Petek E; Hodge JC; Bassett AS; Scherer SW
    Hum Mol Genet; 2013 May; 22(10):2055-66. PubMed ID: 23393157
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder.
    Chen CH; Chen HI; Liao HM; Chen YJ; Fang JS; Lee KF; Gau SS
    Psychiatr Genet; 2017 Feb; 27(1):23-33. PubMed ID: 27846046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
    Kopp N; Amarillo I; Martinez-Agosto J; Quintero-Rivera F
    Am J Med Genet A; 2021 Mar; 185(3):894-900. PubMed ID: 33369065
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
    Maussion G; Cruceanu C; Rosenfeld JA; Bell SC; Jollant F; Szatkiewicz J; Collins RL; Hanscom C; Kolobova I; de Champfleur NM; Blumenthal I; Chiang C; Ota V; Hultman C; O'Dushlaine C; McCarroll S; Alda M; Jacquemont S; Ordulu Z; Marshall CR; Carter MT; Shaffer LG; Sklar P; Girirajan S; Morton CC; Gusella JF; Turecki G; Stavropoulos DJ; Sullivan PF; Scherer SW; Talkowski ME; Ernst C
    Am J Med Genet A; 2017 Feb; 173(2):395-406. PubMed ID: 27759917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
    Reis VN; Kitajima JP; Tahira AC; Feio-Dos-Santos AC; Fock RA; Lisboa BC; Simões SN; Krepischi AC; Rosenberg C; Lourenço NC; Passos-Bueno MR; Brentani H
    PLoS One; 2017; 12(1):e0170386. PubMed ID: 28118382
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene.
    Zheglo D; Brueckner LM; Sepman O; Wecht EM; Kuligina E; Suspitsin E; Imyanitov E; Savelyeva L
    Genes Chromosomes Cancer; 2019 May; 58(5):284-294. PubMed ID: 30411419
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An assessment of sex bias in neurodevelopmental disorders.
    Polyak A; Rosenfeld JA; Girirajan S
    Genome Med; 2015 Aug; 7(1):94. PubMed ID: 26307204
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
    Lesch KP; Selch S; Renner TJ; Jacob C; Nguyen TT; Hahn T; Romanos M; Walitza S; Shoichet S; Dempfle A; Heine M; Boreatti-Hümmer A; Romanos J; Gross-Lesch S; Zerlaut H; Wultsch T; Heinzel S; Fassnacht M; Fallgatter A; Allolio B; Schäfer H; Warnke A; Reif A; Ropers HH; Ullmann R
    Mol Psychiatry; 2011 May; 16(5):491-503. PubMed ID: 20308990
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.
    Xu Q; Goldstein J; Wang P; Gadi IK; Labreche H; Rehder C; Wang WP; McConkie A; Xu X; Jiang YH
    Pediatr Res; 2016 Sep; 80(3):371-81. PubMed ID: 27119313
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
    Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
    Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
    Cameli C; Viggiano M; Rochat MJ; Maresca A; Caporali L; Fiorini C; Palombo F; Magini P; Duardo RC; Ceroni F; Scaduto MC; Posar A; Seri M; Carelli V; Visconti P; Bacchelli E; Maestrini E
    J Cell Mol Med; 2021 Mar; 25(5):2459-2470. PubMed ID: 33476483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
    Polan MB; Pastore MT; Steingass K; Hashimoto S; Thrush DL; Pyatt R; Reshmi S; Gastier-Foster JM; Astbury C; McBride KL
    Eur J Hum Genet; 2014 Jan; 22(1):105-9. PubMed ID: 23695283
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Ahmad A; Nkosi D; Iqbal MA
    Genes (Basel); 2023 Feb; 14(3):. PubMed ID: 36980871
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
    Paduano F; Colao E; Loddo S; Orlando V; Trapasso F; Novelli A; Perrotti N; Iuliano R
    Genes (Basel); 2020 May; 11(5):. PubMed ID: 32397165
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.