BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 22218741)

  • 1. 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]  

  • 2. 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]  

  • 3. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.
    Zherebtsov MM; Klein RT; Aviv H; Toruner GA; Hanna NN; Brooks SS
    Clin Dysmorphol; 2007 Jul; 16(3):135-140. PubMed ID: 17551325
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
    Izumi K; Housam R; Kapadia C; Stallings VA; Medne L; Shaikh TH; Kublaoui BM; Zackai EH; Grimberg A
    Am J Med Genet A; 2013 Dec; 161A(12):3137-43. PubMed ID: 24038875
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
    Cutillo G; Bonacchi R; Cecchetti G; Bellini A; Vabanesi M; Zambon A; Natali Sora MG; Baldoli C; Del Carro U; Minicucci F; Fanelli GF; Filippi M
    Seizure; 2023 Jul; 109():45-49. PubMed ID: 37210930
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.
    Vlckova M; Trkova M; Zemanova Z; Hancarova M; Novotna D; Raskova D; Puchmajerova A; Drabova J; Zmitkova Z; Tan Y; Sedlacek Z
    Cytogenet Genome Res; 2012; 136(1):15-20. PubMed ID: 22156400
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
    El Khattabi L; Guimiot F; Pipiras E; Andrieux J; Baumann C; Bouquillon S; Delezoide AL; Delobel B; Demurger F; Dessuant H; Drunat S; Dubourg C; Dupont C; Faivre L; Holder-Espinasse M; Jaillard S; Journel H; Lyonnet S; Malan V; Masurel A; Marle N; Missirian C; Moerman A; Moncla A; Odent S; Palumbo O; Palumbo P; Ravel A; Romana S; Tabet AC; Valduga M; Vermelle M; Carella M; Dupont JM; Verloes A; Benzacken B; Delahaye A
    Eur J Hum Genet; 2015 Aug; 23(8):1010-8. PubMed ID: 25351778
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
    Salpietro V; Ruggieri M; Mankad K; Di Rosa G; Granata F; Loddo I; Moschella E; Calabro MP; Capalbo A; Bernardini L; Novelli A; Polizzi A; Seidler DG; Arrigo T; Briuglia S
    Am J Med Genet A; 2015 Sep; 167A(9):2042-51. PubMed ID: 25940952
    [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. 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]  

  • 14. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
    Rosenfeld JA; Crolla JA; Tomkins S; Bader P; Morrow B; Gorski J; Troxell R; Forster-Gibson C; Cilliers D; Hislop RG; Lamb A; Torchia B; Ballif BC; Shaffer LG
    Am J Med Genet A; 2010 Aug; 152A(8):1951-9. PubMed ID: 20635359
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.
    Kulharya AS; Flannery DB; Norris K; Lovell C; Levy B; Velagaleti GV
    Am J Med Genet A; 2008 Sep; 146A(17):2234-41. PubMed ID: 18666229
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
    Nagamani SC; Erez A; Eng C; Ou Z; Chinault C; Workman L; Coldwell J; Stankiewicz P; Patel A; Lupski JR; Cheung SW
    Eur J Hum Genet; 2009 May; 17(5):573-81. PubMed ID: 19034313
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
    Eash D; Waggoner D; Chung J; Stevenson D; Martin CL
    Clin Genet; 2005 May; 67(5):396-403. PubMed ID: 15811006
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
    Gilhuis HJ; van Ravenswaaij CM; Hamel BJ; Gabreëls FJ
    Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
    Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
    Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
    Hauge X; Raca G; Cooper S; May K; Spiro R; Adam M; Martin CL
    Genet Med; 2008 Aug; 10(8):599-611. PubMed ID: 18641517
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.