BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 17163546)

  • 1. Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
    Battaglia A; Novelli A; Ceccarini C; Bernardini L; Carey JC
    Am J Med Genet A; 2007 Jan; 143A(2):184-8. PubMed ID: 17163546
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.
    Battaglia A; Novelli A; Ceccarini C; Carey JC
    Am J Med Genet A; 2006 Jan; 140(2):144-50. PubMed ID: 16353244
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
    Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
    Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.
    Semerci CN; Cinbis M; Ullmann R; Steininger A; Bahce M; Yagci B; Ozden S; Sabir N; Gumus D; Tepeli E; Arteaga J; Mutchinick OM
    Am J Med Genet A; 2010 Jul; 152A(7):1724-9. PubMed ID: 20578131
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S; Aypar E; Beksaç MS; Bartsch O
    Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A; Rudnik-Schöneborn S; Eggermann K; Eggermann T; Senderek J; Schwanitz G; Zerres K; Schüler HM
    Eur J Med Genet; 2006; 49(6):505-10. PubMed ID: 16905374
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
    Fan J; Senaratne TN; Liu JY; Bina M; Martinez-Agosto JA; Quintero-Rivera F; Wang JJ
    BMC Med Genomics; 2023 Mar; 16(1):65. PubMed ID: 36991446
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
    Benussi DG; Costa P; Zollino M; Murdolo M; Petix V; Carrozzi M; Pecile V
    Genet Test Mol Biomarkers; 2009 Apr; 13(2):199-204. PubMed ID: 19378504
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Subtelomeric deletion of 12p: Description of a third case and review.
    Macdonald AH; Rodríguez L; Aceña I; Martínez-Fernández ML; Sánchez-Izquierdo D; Zuazo E; Martínez-Frías ML
    Am J Med Genet A; 2010 Jun; 152A(6):1561-6. PubMed ID: 20503336
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
    Tos T; Vurucu S; Karkucak M; Kozan S; Gul D; Akin R
    Genet Couns; 2013; 24(3):259-64. PubMed ID: 24341139
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.
    Wu Y; Ji T; Wang J; Xiao J; Wang H; Li J; Gao Z; Yang Y; Cai B; Wang L; Zhou Z; Tian L; Wang X; Zhong N; Qin J; Wu X; Jiang Y
    BMC Med Genet; 2010 May; 11():72. PubMed ID: 20459802
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
    Obersztyn E; Klapecki J; Helias-Rodzewicz Z; Bocian E; Mazurczak T
    Med Wieku Rozwoj; 2006; 10(1 Pt 2):199-209. PubMed ID: 17028389
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.
    Hagen A; Bigl A; Wand D; Klopocki E; Heller R; Siekmeyer M; Siekmeyer W; Kiess W; Merkenschlager A
    Am J Med Genet A; 2011 Dec; 155A(12):3075-81. PubMed ID: 22052712
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).
    Ensenauer R; Jalal S; Meyer R; Babovic-Vuksanovic D
    Am J Med Genet A; 2004 Feb; 125A(1):86-91. PubMed ID: 14755472
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements].
    Tu X; Zeng J; Cong X; Yan A; Lin Y; Zhang X; Qiu L; Zhou Y; Lan F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):444-8. PubMed ID: 25119907
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].
    Wu Y; Jiang YW; Wang XZ; Wang HF; Wang JM; Yang YL; Qin J; Zhong N; Wu XR
    Zhonghua Er Ke Za Zhi; 2007 Dec; 45(12):906-11. PubMed ID: 18339278
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.
    Lenzini E; Drigo P; Redaelli S; Mammi I; Rosa-Rizzotto M; Dalprà L
    Genet Test Mol Biomarkers; 2010 Oct; 14(5):695-701. PubMed ID: 20854099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
    Courtens W; Wuyts W; Scheers S; Van Luijk R; Reyniers E; Rooms L; Ceulemans B; Kooy F; Wauters J
    Eur J Med Genet; 2006; 49(5):402-13. PubMed ID: 16488200
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.