BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 23696251)

  • 1. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
    Rush ET; Stevens JM; Sanger WG; Olney AH
    Am J Med Genet A; 2013 Jul; 161A(7):1726-32. PubMed ID: 23696251
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.
    Lei TY; Wang HT; Li F; Cui YQ; Fu F; Li R; Liao C
    Cleft Palate Craniofac J; 2017 May; 54(3):343-350. PubMed ID: 27031267
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P; Faivre L; Marle N; Thauvin-Robinet C; Mosca AL; Masurel-Paulet A; Borgnon J; Falcon-Eicher S; Danino A; Malka G; Le Merrer M; Huet F; Mugneret F
    Eur J Med Genet; 2007; 50(6):455-64. PubMed ID: 17720646
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
    Yamanishi T; Nishio J; Miya S; Okamoto N; Takahashi A; Toribe Y; Mukai T; Kobayashi C
    Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 10p duplication characterized by fluorescence in situ hybridization.
    Wiktor A; Feldman GL; Kratkoczki P; Ditmars DM; Van Dyke DL
    Am J Med Genet; 1994 Sep; 52(3):315-8. PubMed ID: 7528972
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
    Gläser B; Rossier E; Barbi G; Chiaie LD; Blank C; Vogel W; Kehrer-Sawatzki H
    Am J Med Genet A; 2003 Jan; 116A(1):66-70. PubMed ID: 12476454
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
    Kobayashi J; Kimijima Y; Yamada S; Amagasa T; Saito-Ohara F
    J Craniomaxillofac Surg; 2000 Jun; 28(3):165-70. PubMed ID: 10964553
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
    Tzschach A; Grasshoff U; Schäferhoff K; Bonin M; Dufke A; Wolff M; Haas-Lude K; Bevot A; Riess O
    Am J Med Genet A; 2012 Jul; 158A(7):1709-12. PubMed ID: 22639460
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.
    Leal T; Andrieux J; Duban-Bedu B; Bouquillon S; Brevière GM; Delobel B
    Eur J Med Genet; 2009; 52(1):62-6. PubMed ID: 19022414
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.
    Osoegawa K; Vessere GM; Utami KH; Mansilla MA; Johnson MK; Riley BM; L'Heureux J; Pfundt R; Staaf J; van der Vliet WA; Lidral AC; Schoenmakers EF; Borg A; Schutte BC; Lammer EJ; Murray JC; de Jong PJ
    J Med Genet; 2008 Feb; 45(2):81-6. PubMed ID: 17873121
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Use of array comparative genome hybridization in orofacial clefting.
    Gallego CJ; Grant J; Mikhail FM; Barger C; Robin NH
    J Craniofac Surg; 2010 Sep; 21(5):1591-4. PubMed ID: 20856054
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
    Erdogan F; Ullmann R; Chen W; Schubert M; Adolph S; Hultschig C; Kalscheuer V; Ropers HH; Spaich C; Tzschach A
    Am J Med Genet A; 2007 Jan; 143A(2):172-8. PubMed ID: 17163532
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
    Zollino M; Di Stefano C; Zampino G; Mastroiacovo P; Wright TJ; Sorge G; Selicorni A; Tenconi R; Zappalà A; Battaglia A; Di Rocco M; Palka G; Pallotta R; Altherr MR; Neri G
    Am J Med Genet; 2000 Sep; 94(3):254-61. PubMed ID: 10995514
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case report: Y;6 translocation with deletion of 6p.
    Klein OD; Backstrand K; Cotter PD; Marco E; Sherr E; Slavotinek A
    Clin Dysmorphol; 2005 Apr; 14(2):93-96. PubMed ID: 15770132
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 22q11 Deletion in children with cleft lip and palate--is routine screening justified?
    Bashir MA; Hodgkinson PD; Montgomery T; Splitt M
    J Plast Reconstr Aesthet Surg; 2008; 61(2):130-2. PubMed ID: 17707704
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].
    Lo BH; Murch A; Chabros V; Withnell R
    J Paediatr Child Health; 1996 Aug; 32(4):347-9. PubMed ID: 8844544
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate.
    Rojnueangnit K; Mikhail FM; Cui X; Yu S; Robin NH
    Cleft Palate Craniofac J; 2015 Nov; 52(6):724-31. PubMed ID: 25489768
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
    Haldeman-Englert CR; Gai X; Perin JC; Ciano M; Halbach SS; Geiger EA; McDonald-McGinn DM; Hakonarson H; Zackai EH; Shaikh TH
    Eur J Med Genet; 2009; 52(4):265-8. PubMed ID: 19100872
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An interstitial deletion of chromosome 7 at band q21: a case report and review.
    Courtens W; Vermeulen S; Wuyts W; Messiaen L; Wauters J; Nuytinck L; Peeters N; Storm K; Speleman F; Nöthen MM
    Am J Med Genet A; 2005 Apr; 134A(1):12-23. PubMed ID: 15732063
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.