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Journal Abstract Search

195 related items for PubMed ID: 11977185

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Hungarian case with Costello syndrome and translocation t(1,22).
    Czeizel AE, Tímár L.
    Am J Med Genet; 1995 Jul 03; 57(3):501-3. PubMed ID: 7677162
    [No Abstract] [Full Text] [Related]

  • 3. Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.
    Sutajová M, Neukirchen U, Meinecke P, Czeizel AE, Tímár L, Sólyom E, Gal A, Kutsche K.
    Genomics; 2004 May 03; 83(5):883-92. PubMed ID: 15081117
    [Abstract] [Full Text] [Related]

  • 4. Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies.
    Ergun MA, Balci S, Konaç E, Kan D, Menevşe S, Bartsch O.
    Turk J Pediatr; 2004 May 03; 46(4):384-7. PubMed ID: 15641279
    [Abstract] [Full Text] [Related]

  • 5. 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 May 03; 52(4):211-7. PubMed ID: 19379847
    [Abstract] [Full Text] [Related]

  • 6. 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 May 03; 48(3):355-9. PubMed ID: 16179232
    [Abstract] [Full Text] [Related]

  • 7. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
    Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S.
    Am J Med Genet; 2002 Jul 15; 110(4):384-90. PubMed ID: 12116214
    [Abstract] [Full Text] [Related]

  • 8. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
    El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C.
    Eur J Med Genet; 2011 Jul 15; 54(3):369-73. PubMed ID: 21397059
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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 Jul 15; 49(5):384-95. PubMed ID: 16503209
    [Abstract] [Full Text] [Related]

  • 11. Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
    Wouters L, Rodriguez Rodriguez CM, Dapena EP, Poorten VV, Devriendt K, Van Esch H.
    Eur J Med Genet; 2011 Jul 15; 54(3):236-40. PubMed ID: 21262397
    [Abstract] [Full Text] [Related]

  • 12. Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22.
    Mirza G, Imaizumi K, Ragoussis J.
    J Med Genet; 2000 Sep 15; 37(9):E22. PubMed ID: 10978369
    [No Abstract] [Full Text] [Related]

  • 13. [Translocation (2:4)(46 XY, t (2,4) q31-33; q35) associated with Evans' syndrome in a patient with mental retardation and Aarskog-like phenotype].
    Cañabate Reche F, García López MA, Vázquez López MA, Giménez Garrido F, Gracia Escudero A, Villegas Maldonado G, López Muñoz J.
    An Esp Pediatr; 1997 May 15; 46(5):499-502. PubMed ID: 9297408
    [No Abstract] [Full Text] [Related]

  • 14. Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation.
    Afroze B, Ngu LH, Roziana A, Aminah M, Noor Shahizan A.
    Singapore Med J; 2008 Dec 15; 49(12):e372-4. PubMed ID: 19122939
    [Abstract] [Full Text] [Related]

  • 15. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.
    Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y.
    Clin Genet; 2008 May 15; 73(5):502-3. PubMed ID: 18336587
    [No Abstract] [Full Text] [Related]

  • 16. Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?
    Suri M, Garrett C.
    Clin Dysmorphol; 1998 Apr 15; 7(2):149-51. PubMed ID: 9571289
    [No Abstract] [Full Text] [Related]

  • 17. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
    Mark HF, Wyandt H, Huang XL, Milunsky JM.
    Clin Genet; 2005 Aug 15; 68(2):146-51. PubMed ID: 15996211
    [Abstract] [Full Text] [Related]

  • 18. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
    Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ.
    Eur J Hum Genet; 2004 May 15; 12(5):419-21. PubMed ID: 14997185
    [Abstract] [Full Text] [Related]

  • 19. Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3-qter.
    Lee KA, Kim SH, Lee MH, Law ME, Jalal SM.
    Am J Med Genet; 2001 Dec 15; 104(4):291-4. PubMed ID: 11754062
    [Abstract] [Full Text] [Related]

  • 20. 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 Dec 15; 49(1):19-27. PubMed ID: 16473306
    [Abstract] [Full Text] [Related]

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