BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 16835935)

  • 1. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
    Nolen LD; Amor D; Haywood A; St Heaps L; Willcock C; Mihelec M; Tam P; Billson F; Grigg J; Peters G; Jamieson RV
    Am J Med Genet A; 2006 Aug; 140(16):1711-8. PubMed ID: 16835935
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.
    Lemyre E; Lemieux N; Décarie JC; Lambert M
    Am J Med Genet; 1998 May; 77(2):162-5. PubMed ID: 9605291
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.
    Elliott J; Maltby EL; Reynolds B
    J Med Genet; 1993 Mar; 30(3):251-2. PubMed ID: 7682620
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
    Martínez-Frías ML; Ocejo-Vinyals JG; Arteaga R; Martínez-Fernández ML; Macdonald A; Pérez-Belmonte E; Bermejo-Sánchez E; Martínez S
    Am J Med Genet A; 2014 Mar; 164A(3):639-47. PubMed ID: 24357464
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
    Gallardo ME; Lopez-Rios J; Fernaud-Espinosa I; Granadino B; Sanz R; Ramos C; Ayuso C; Seller MJ; Brunner HG; Bovolenta P; Rodríguez de Córdoba S
    Genomics; 1999 Oct; 61(1):82-91. PubMed ID: 10512683
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 14q(22) deletion in a familial case of anophthalmia with polydactyly.
    Ahmad ME; Dada R; Dada T; Kucheria K
    Am J Med Genet A; 2003 Jul; 120A(1):117-22. PubMed ID: 12794703
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.
    Rauchman M; Hoffman WH; Hanna JD; Kulharya AS; Figueroa RE; Yang J; Tuck-Miller CM
    Am J Med Genet; 2001 Nov; 104(1):31-6. PubMed ID: 11746024
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
    Jensen DR; Martin DM; Gebarski S; Sahoo T; Brundage EK; Chinault AC; Otto EA; Chaki M; Hildebrandt F; Cheung SW; Lesperance MM
    Am J Med Genet A; 2009 Mar; 149A(3):396-402. PubMed ID: 19215039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
    Pichiecchio A; Vitale G; Caporali C; Parazzini C; Milani D; Recalcati MP; D'Amico L; Signorini S; Balottin U; Bastianello S
    BMC Med Genomics; 2018 Sep; 11(1):87. PubMed ID: 30268123
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
    Male A; Davies A; Bergbaum A; Keeling J; FitzPatrick D; Mackie Ogilvie C; Berg J
    Eur J Hum Genet; 2002 Dec; 10(12):807-12. PubMed ID: 12461687
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.
    Lumaka A; Van Hole C; Casteels I; Ortibus E; De Wolf V; Vermeesch JR; Lukusa T; Devriendt K
    Am J Med Genet A; 2012 Jun; 158A(6):1381-7. PubMed ID: 22581619
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.
    Martínez-Fernández ML; Bermejo-Sánchez E; Fernández B; MacDonald A; Fernández-Toral J; Martínez-Frías ML
    Am J Med Genet A; 2014 Feb; 164A(2):338-45. PubMed ID: 24311462
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
    Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
    Wyatt A; Bakrania P; Bunyan DJ; Osborne RJ; Crolla JA; Salt A; Ayuso C; Newbury-Ecob R; Abou-Rayyah Y; Collin JR; Robinson D; Ragge N
    Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
    Tzschach A; Krause-Plonka I; Menzel C; Kalscheuer V; Toennies H; Scherthan H; Knoblauch A; Radke M; Ropers HH; Hoeltzenbein M
    Am J Med Genet A; 2006 Mar; 140(5):496-502. PubMed ID: 16470790
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome.
    Kera J; Watal P; Ali SA
    Cureus; 2021 Jul; 13(7):e16395. PubMed ID: 34408948
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.
    Al-Kateb H; Hahn A; Gastier-Foster JM; Jeng L; McCandless SE; Curtis CA
    Am J Med Genet A; 2010 Dec; 152A(12):3148-53. PubMed ID: 21108400
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
    Bennett CP; Betts DR; Seller MJ
    J Med Genet; 1991 Apr; 28(4):280-1. PubMed ID: 1856837
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    Ou Z; Martin DM; Bedoyan JK; Cooper ML; Chinault AC; Stankiewicz P; Cheung SW
    Am J Med Genet A; 2008 Oct; 146A(19):2480-9. PubMed ID: 18666230
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.
    Erdel M; Duba HC; Verdorfer I; Lingenhel A; Geiger R; Gutenberger KH; Ludescher E; Utermann B; Utermann G
    Hum Genet; 1997 May; 99(5):596-601. PubMed ID: 9150724
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.