BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 36935482)

  • 1. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
    Engwerda A; Kerstjens-Frederikse WS; Corsten-Janssen N; Dijkhuizen T; van Ravenswaaij-Arts CMA
    Orphanet J Rare Dis; 2023 Mar; 18(1):59. PubMed ID: 36935482
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
    Rraku E; Kerstjens-Frederikse WS; Swertz MA; Dijkhuizen T; van Ravenswaaij-Arts CMA; Engwerda A
    Orphanet J Rare Dis; 2023 Mar; 18(1):68. PubMed ID: 36964621
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
    Engwerda A; Frentz B; den Ouden AL; Flapper BCT; Swertz MA; Gerkes EH; Plantinga M; Dijkhuizen T; van Ravenswaaij-Arts CMA
    Eur J Hum Genet; 2018 Oct; 26(10):1478-1489. PubMed ID: 29904178
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother.
    Thakur M; Bronshtein E; Hankerd M; Adekola H; Puder K; Gonik B; Ebrahim S
    Am J Med Genet A; 2018 Sep; 176(9):1985-1990. PubMed ID: 30194807
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.
    Backx L; Fryns JP; Marcelis C; Devriendt K; Vermeesch J; Van Esch H
    Am J Med Genet A; 2010 Feb; 152A(2):319-26. PubMed ID: 20082458
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
    Rosenfeld JA; Amrom D; Andermann E; Andermann F; Veilleux M; Curry C; Fisher J; Deputy S; Aylsworth AS; Powell CM; Manickam K; Heese B; Maisenbacher M; Stevens C; Ellison JW; Upton S; Moeschler J; Torres-Martinez W; Stevens A; Marion R; Pereira EM; Babcock M; Morrow B; Sahoo T; Lamb AN; Ballif BC; Paciorkowski AR; Shaffer LG
    Neurogenetics; 2012 Feb; 13(1):31-47. PubMed ID: 22218741
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
    Elia M; Striano P; Fichera M; Gaggero R; Castiglia L; Galesi O; Malacarne M; Pierluigi M; Amato C; Musumeci SA; Romano C; Majore S; Grammatico P; Zara F; Striano S; Faravelli F
    Epilepsia; 2006 May; 47(5):830-8. PubMed ID: 16686647
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
    Peddibhotla S; Nagamani SC; Erez A; Hunter JV; Holder JL; Carlin ME; Bader PI; Perras HM; Allanson JE; Newman L; Simpson G; Immken L; Powell E; Mohanty A; Kang SH; Stankiewicz P; Bacino CA; Bi W; Patel A; Cheung SW
    Eur J Hum Genet; 2015 Jan; 23(1):54-60. PubMed ID: 24736736
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
    Lesieur-Sebellin M; Till M; Khau Van Kien P; Herve B; Bourgon N; Dupont C; Tabet AC; Barrois M; Coussement A; Loeuillet L; Mousty E; Ea V; El Assal A; Mary L; Jaillard S; Beneteau C; Le Vaillant C; Coutton C; Devillard F; Goumy C; Delabaere A; Redon S; Laurent Y; Lamouroux A; Massardier J; Turleau C; Sanlaville D; Cantagrel V; Sonigo P; Vialard F; Salomon LJ; Malan V
    Prenat Diagn; 2022 Jan; 42(1):118-135. PubMed ID: 34894355
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
    Wadt K; Jensen LN; Bjerglund L; Lundstrøm M; Kirchhoff M; Kjaergaard S
    Prenat Diagn; 2012 Dec; 32(12):1212-7. PubMed ID: 23065819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ophthalmologic abnormalities in a de novo terminal 6q deletion.
    Abu-Amero KK; Hellani A; Salih MA; Al Hussain A; al Obailan M; Zidan G; Alorainy IA; Bosley TM
    Ophthalmic Genet; 2010 Mar; 31(1):1-11. PubMed ID: 20141352
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
    Conti V; Carabalona A; Pallesi-Pocachard E; Parrini E; Leventer RJ; Buhler E; McGillivray G; Michel FJ; Striano P; Mei D; Watrin F; Lise S; Pagnamenta AT; Taylor JC; Kini U; Clayton-Smith J; Novara F; Zuffardi O; Dobyns WB; Scheffer IE; Robertson SP; Berkovic SF; Represa A; Keays DA; Cardoso C; Guerrini R
    Brain; 2013 Nov; 136(Pt 11):3378-94. PubMed ID: 24056535
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New insights into the phenotypes of 6q deletions.
    Hopkin RJ; Schorry E; Bofinger M; Milatovich A; Stern HJ; Jayne C; Saal HM
    Am J Med Genet; 1997 Jun; 70(4):377-86. PubMed ID: 9182778
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature.
    Vignoli A; Scornavacca GF; Peron A; La Briola F; Canevini MP
    Am J Med Genet A; 2013 Aug; 161A(8):2009-15. PubMed ID: 23794236
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
    Engwerda A; Frentz B; Rraku E; de Souza NFS; Swertz MA; Plantinga M; Kerstjens-Frederikse WS; Ranchor AV; van Ravenswaaij-Arts CMA
    Orphanet J Rare Dis; 2023 Mar; 18(1):60. PubMed ID: 36935495
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.
    Xie X; Chai H; DiAdamo A; Grommisch B; Wen J; Zhang H; Li P
    Glob Med Genet; 2022 Jun; 9(2):166-174. PubMed ID: 35707784
    [No Abstract]   [Full Text] [Related]  

  • 17. Terminal deletion of chromosome 6q.
    Su PH; Chen JY; Chen SJ; Yang KC
    Pediatr Neonatol; 2008 Jun; 49(3):88-93. PubMed ID: 18947005
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
    Klein OD; Cotter PD; Moore MW; Zanko A; Gilats M; Epstein CJ; Conte F; Rauen KA
    Clin Genet; 2007 Mar; 71(3):260-6. PubMed ID: 17309649
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 6q subtelomeric deletion: is there a recognizable syndrome?
    Stevenson DA; Brothman AR; Carey JC; Chen Z; Dent KM; Bale JF; Longo N
    Clin Dysmorphol; 2004 Apr; 13(2):103-106. PubMed ID: 15057127
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.
    Rubtsov N; Senger G; Kuzcera H; Neumann A; Kelbova C; Junker K; Beensen V; Claussen U
    Hum Genet; 1996 Jun; 97(6):705-9. PubMed ID: 8641683
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.