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 *

115 related articles for article (PubMed ID: 21495360)

  • 21. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
    Northrop EL; Ren H; Bruno DL; McGhie JD; Coffa J; Schouten J; Choo KH; Slater HR
    Hum Mutat; 2005 Nov; 26(5):477-86. PubMed ID: 16170807
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
    Stegmann AP; Jonker LM; Engelen JJ
    Eur J Med Genet; 2008; 51(2):93-105. PubMed ID: 18032123
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Distal 19q duplication.
    Zonana J; Brown MG; Magenis RE
    Hum Genet; 1982; 60(3):267-70. PubMed ID: 7106757
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
    Erjavec-Skerget A; Stangler-Herodez S; Zagorac A; Zagradisnik B; Kokalj-Vokac N
    Croat Med J; 2006 Dec; 47(6):841-50. PubMed ID: 17167856
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.
    Pulipaka S; Kaur A; Bhatia P; Panigrahi I; Kaur A
    Clin Dysmorphol; 2021 Jul; 30(3):125-129. PubMed ID: 33859080
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.
    Eggermann K; Schönherr N; Ranke MB; Wollmann HA; Binder G; Eggermann T
    Genet Test; 2008 Mar; 12(1):111-3. PubMed ID: 18307383
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.
    Schou KV; Kirchhoff M; Nygaard U; Jørgensen C; Sundberg K
    Ultrasound Obstet Gynecol; 2009 Dec; 34(6):618-22. PubMed ID: 19953565
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
    Rooms L; Reyniers E; Wuyts W; Storm K; van Luijk R; Scheers S; Wauters J; van den Ende J; Biervliet M; Eyskens F; van Goethem G; Laridon A; Ceulemans B; Courtens W; Kooy RF
    Clin Genet; 2006 Jan; 69(1):58-64. PubMed ID: 16451137
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).
    Kroes HY; Tuerlings JH; Hordijk R; Folkers NR; ten Kate LP
    J Med Genet; 1994 Feb; 31(2):156-8. PubMed ID: 8182726
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.
    Srivastava P; Kaur P; Daniel R; Chaudhry C; Kaur A; Seth S; Kumari D; Kaur A; Panigrahi I
    J Pediatr Genet; 2024 Jun; 13(2):81-89. PubMed ID: 38721576
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.
    Tos T; Karaman A; Aksoy A; Tukun A
    Genet Couns; 2012; 23(2):289-96. PubMed ID: 22876589
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Rapid detection of aneuploidy and unbalanced chromosomal rearrangements by subtelomeric multiplex ligation-dependent probe amplification in fetuses with congenital heart disease.
    Wang J; Liu Z; Liu H; Li N; Li S; Chen X; Lin Y; Wang H; Zhu J; Liu S
    Fetal Diagn Ther; 2013; 34(2):110-5. PubMed ID: 23774328
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature.
    Weise A; Rittinger O; Starke H; Ziegler M; Claussen U; Liehr T
    Cytogenet Genome Res; 2003; 103(1-2):14-6. PubMed ID: 15004457
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.
    Babovic-Vuksanovic D; Jenkins SC; Ensenauer R; Newman DC; Jalal SM
    Am J Med Genet A; 2004 Jan; 124A(3):318-22. PubMed ID: 14708108
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Deletion of chromosome 2 (p11-p13): case report and review.
    Prasher VP; Krishnan VH; Clarke DJ; Maliszewska CT; Corbett JA
    J Med Genet; 1993 Jul; 30(7):604-6. PubMed ID: 8411037
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy.
    Chakanovskis JE; Sutherland GR
    J Ment Defic Res; 1971 Sep; 15(3):153-62. PubMed ID: 5098076
    [No Abstract]   [Full Text] [Related]  

  • 37. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
    Kariminejad A; Ajeawung NF; Bozorgmehr B; Dionne-Laporte A; Molidperee S; Najafi K; Gibbs RA; Lee BH; Hennekam RC; Campeau PM
    J Hum Genet; 2017 Apr; 62(4):465-471. PubMed ID: 28003643
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.
    Saxena D; Agarwal M; Gupta D; Agrawal S; Das V; Phadke SR
    J Postgrad Med; 2016; 62(4):239-241. PubMed ID: 27763481
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
    Roselló M; Monfort S; Orellana C; Oltra S; Martínez Garay I; Martínez F
    Med Clin (Barc); 2007 Mar; 128(11):419-21. PubMed ID: 17394858
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification].
    Gu Y; Xie JS; Luo FW; Geng Q; Zhang HK; Shen HN; Zhao K; Liu QZ
    Zhonghua Fu Chan Ke Za Zhi; 2009 Jul; 44(7):509-13. PubMed ID: 19957550
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.