These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1175 related articles for article (PubMed ID: 19239079)

  • 1. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H; Vermeesch J; Fryns JP
    Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
    Feenstra I; Koolen DA; Van der Pas J; Hamel BC; Mieloo H; Smeets DF; Van Ravenswaaij CM
    Eur J Med Genet; 2006; 49(5):384-95. PubMed ID: 16503209
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M; Hemly NA; Zaki MS
    Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T; Aerssens P; Vermeesch JR; Fryns JP
    Eur J Med Genet; 2005; 48(3):355-9. PubMed ID: 16179232
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial trisomy 15q: report of a patient and literature review.
    Chandler K; Schrander-Stumpel CT; Engelen J; Theunissen P; Fryns JP
    Genet Couns; 1997; 8(2):91-7. PubMed ID: 9219006
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.
    Hou JW
    Chang Gung Med J; 2005 Sep; 28(9):657-61. PubMed ID: 16323558
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
    Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
    Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 10. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
    Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
    Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
    Morava E; Jackson KE; Tsien F; Marble MR
    Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
    Praphanphoj V; Goodman BK; Thomas GH; Raymond GV
    J Med Genet; 2000 Jan; 37(1):58-61. PubMed ID: 10633138
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FISH-mapping of a 100-kb terminal 22q13 deletion.
    Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
    Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Association of syndromic mental retardation and autism with 22q11.2 duplication.
    Lo-Castro A; Galasso C; Cerminara C; El-Malhany N; Benedetti S; Nardone AM; Curatolo P
    Neuropediatrics; 2009 Jun; 40(3):137-40. PubMed ID: 20020400
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [11q distal trisomy due to a familial 11;18 translocation].
    Menéndez I; Rivera H; Morales E; Juan J; Jiménez M
    Bol Med Hosp Infant Mex; 1990 Nov; 47(11):792-4. PubMed ID: 2285470
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
    de Pater JM; Poot M; Beemer FA; Bijlsma JB; Hack WW; Van Dam WM; Eleveld MJ; Loneus WH; Engelen JJ
    Eur J Med Genet; 2006; 49(1):19-27. PubMed ID: 16473306
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
    Engelen JJ; de Die-Smulders CE; Dirckx R; Verhoeven WM; Tuinier S; Curfs LM; Hamers AJ
    Am J Med Genet; 2002 Apr; 109(2):149-53. PubMed ID: 11977164
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pure familial 6q21q22.1 duplication in two generations.
    Pazooki M; Lebbar A; Roubergues A; Baverel F; Letessier D; Dupont JM
    Eur J Med Genet; 2007; 50(1):60-5. PubMed ID: 17071147
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?
    van Buggenhout G; Decock P; Fryns JP
    Genet Couns; 1996; 7(1):53-9. PubMed ID: 8652089
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.
    Brambila-Tapia AJ; Neira VA; Vásquez-Velásquez AI; Jimenez-Arredondo RE; Chávez-González EL; Picos-Cárdenas VJ; Fletes-Rayas AL; Figuera LE
    Genet Couns; 2014; 25(3):289-97. PubMed ID: 25365851
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 59.