BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 17786117)

  • 1. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
    Shetty S; Boycott KM; Gillan TL; Bowser K; Parboosingh JS; McInnes B; Chernos JE; Bernier FP
    Clin Dysmorphol; 2007 Oct; 16(4):253-6. PubMed ID: 17786117
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.
    Reardon W; McManus SP; Summers D; Winter RM
    Am J Med Genet; 1993 Oct; 47(5):633-6. PubMed ID: 8266988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
    Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
    Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP; Chern SR; Lee CC; Lin CC; Li YC; Hsieh LJ; Chen WL; Wang W
    Prenat Diagn; 2006 Feb; 26(2):138-46. PubMed ID: 16470734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation.
    Tsuji K; Narahara K; Kikkawa K; Murakami M; Yokoyama Y; Ninomiya S; Seino Y
    Am J Med Genet; 1994 Jan; 49(1):98-102. PubMed ID: 7909651
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter.
    Touliatou V; Mavrou A; Kolialexi A; Kanavakis E; Kitsiou-Tzeli S
    Genet Couns; 2007; 18(3):295-301. PubMed ID: 18019370
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.
    Aughton DJ; Cassidy SB; Whiteman DA; Delach JA; Guttmacher AE
    Am J Med Genet; 1991 Sep; 40(4):440-3. PubMed ID: 1746608
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS; Gibson L; McGrath J; Meyn MS; Breg WR; Yang-Feng TL
    Am J Med Genet; 1993 May; 46(3):288-92. PubMed ID: 8488873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
    Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
    Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
    Gribble SM; Prigmore E; Burford DC; Porter KM; Ng BL; Douglas EJ; Fiegler H; Carr P; Kalaitzopoulos D; Clegg S; Sandstrom R; Temple IK; Youings SA; Thomas NS; Dennis NR; Jacobs PA; Crolla JA; Carter NP
    J Med Genet; 2005 Jan; 42(1):8-16. PubMed ID: 15635069
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
    Cetin Z; Yakut S; Clark OA; Mihci E; Berker S; Luleci G
    Gene; 2013 Mar; 516(1):176-80. PubMed ID: 23262338
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
    Schluth-Bolard C; Delobel B; Sanlaville D; Boute O; Cuisset JM; Sukno S; Labalme A; Duban-Bedu B; Plessis G; Jaillard S; Dubourg C; Henry C; Lucas J; Odent S; Pasquier L; Copin H; Latour P; Cordier MP; Nadeau G; Till M; Edery P; Andrieux J
    Eur J Med Genet; 2009; 52(5):291-6. PubMed ID: 19505601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
    Liang DS; Wu LQ; Cai F; Xia K; Long ZG; Pan Q; Dai HP; Xia JH
    Yi Chuan Xue Bao; 2005 Feb; 32(2):124-9. PubMed ID: 15759858
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H; Giuliano F; Massol C; Bloch C; De Ricaud D; Lambert JC; Perelman S
    Eur J Med Genet; 2006; 49(5):431-8. PubMed ID: 16497571
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    Kolialexi A; Kitsiou S; Fryssira H; Sofocleous C; Kouvidi E; Tsangaris GT; Salavoura K; Mavrou A
    In Vivo; 2006; 20(4):473-8. PubMed ID: 16900777
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.
    Nixon J; Oldridge M; Wilkie AO; Smith K
    Am J Med Genet; 1997 Jun; 70(3):324-7. PubMed ID: 9188674
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
    Cai T; Yu P; Tagle DA; Xia J
    Am J Med Genet; 1999 Oct; 86(4):305-11. PubMed ID: 10494083
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo complex chromosome rearrangement: a study of two patients.
    Melo DG; Huber J; Giuliani LR; Mazzucatto LF; Riegel M; Pina-Neto JM
    Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.
    Giardino D; Corti C; Ballarati L; Finelli P; Valtorta C; Botta G; Giudici M; Grosso E; Larizza L
    Prenat Diagn; 2006 Jun; 26(6):565-70. PubMed ID: 16683274
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
    Cargile CB; Goh DL; Goodman BK; Chen XN; Korenberg JR; Semenza GL; Thomas GH
    Am J Med Genet; 2002 Apr; 109(2):133-8. PubMed ID: 11977162
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.