BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

282 related articles for article (PubMed ID: 16179227)

  • 41. Tetralogy of Fallot in a patient with Killian-Pallister syndrome.
    Grech V; Parascandalo R; Cuschieri A
    Pediatr Cardiol; 1999; 20(2):134-5. PubMed ID: 9986890
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Tetrasomy 12p--unusual presentation in CVS.
    Dong L; Falk RE; Williams J; Kohan M; Schreck RR
    Prenat Diagn; 2003 Feb; 23(2):101-3. PubMed ID: 12575013
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.
    Frković SH; Durisević IT; Trcić RL; Sarnavka V; Gornik KC; Muzinić D; Letica L; Barić I; Begović D
    Coll Antropol; 2010 Mar; 34(1):247-50. PubMed ID: 20437642
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
    Bernert J; Bartels I; Gatz G; Hansmann I; Heyat M; Niedmann PD; Rehder H; Waldenmaier C; Zoll B
    Am J Med Genet; 1992 Mar; 42(5):747-50. PubMed ID: 1632452
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
    Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
    Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.
    Quarrell OW; Hamill MA; Hughes HE
    Am J Med Genet; 1988 Dec; 31(4):841-4. PubMed ID: 3239576
    [TBL] [Abstract][Full Text] [Related]  

  • 51. The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.
    Mowery-Rushton PA; Stadler MP; Kochmar SJ; McPherson E; Surti U; Hogge WA
    Prenat Diagn; 1997 Mar; 17(3):255-65. PubMed ID: 9110370
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG; Schuil J; Van Raveswaaij-Arts C; De Pater JM
    Genet Couns; 2004; 15(4):405-10. PubMed ID: 15658615
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)].
    Pankau R; Diebold U; Jenderny J; Kautza M; Dörner K
    Monatsschr Kinderheilkd; 1992 Jun; 140(6):340-2. PubMed ID: 1640944
    [No Abstract]   [Full Text] [Related]  

  • 54. [Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].
    Zhang W; Guo Z; Wang W; Sun Y; Zhang C; Wang X; Zhang L; Wang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):232-235. PubMed ID: 29652999
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
    Pauli S; Schmidt T; Funke R; Zoll B; Burfeind P; Dybowski U; Shoukier M; Bartels I
    Eur J Med Genet; 2012; 55(8-9):480-4. PubMed ID: 22677035
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.
    Lee MN; Lee J; Yu HJ; Lee J; Kim SH
    Ann Lab Med; 2017 Jan; 37(1):66-70. PubMed ID: 27834069
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Mosaic supernumerary r(8) syndrome.
    Yilmaz S; Tarkan-Argüden Y; Kuru D; Deviren A; Karaman B; Yüksel A; Hacihanefioğlu S
    Genet Couns; 2005; 16(2):187-90. PubMed ID: 16080301
    [No Abstract]   [Full Text] [Related]  

  • 58. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
    Reddy KS; Sulcova V; Schwartz S; Noble JE; Phillips J; Brasel JA; Huff K; Lin HJ
    Am J Med Genet; 2000 May; 92(1):69-76. PubMed ID: 10797426
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Pallister-Killian syndrome: case report with pineal tumor.
    Mauceri L; Sorge G; Incorpora G; Pavone L
    Am J Med Genet; 2000 Nov; 95(1):75-8. PubMed ID: 11074499
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.