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 *

148 related articles for article (PubMed ID: 24636861)

  • 1. Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.
    Pal CV; Eble TN; Burnside RD; Bi W; Patel A; Franco LM
    Eur J Med Genet; 2014; 57(6):264-6. PubMed ID: 24636861
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
    Huang J; Wu X; Montenegro G; Price J; Wang G; Vance JM; Shy ME; Züchner S
    J Neurol; 2010 May; 257(5):735-41. PubMed ID: 19949810
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.
    Liehr T; Rautenstrauss B; Grehl H; Bathke KD; Ekici A; Rauch A; Rott HD
    Hum Genet; 1996 Jul; 98(1):22-8. PubMed ID: 8682501
    [TBL] [Abstract][Full Text] [Related]  

  • 4. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
    Theisen A; Rosenfeld JA; Farrell SA; Harris CJ; Wetzel HH; Torchia BA; Bejjani BA; Ballif BC; Shaffer LG
    Am J Med Genet A; 2009 May; 149A(5):914-8. PubMed ID: 19353629
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Yuan B; Harel T; Gu S; Liu P; Burglen L; Chantot-Bastaraud S; Gelowani V; Beck CR; Carvalho CM; Cheung SW; Coe A; Malan V; Munnich A; Magoulas PL; Potocki L; Lupski JR
    Am J Hum Genet; 2015 Nov; 97(5):691-707. PubMed ID: 26544804
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.
    Rautenstrauss B; Liehr T; Fuchs C; Bevot A; Bornemann A; Postler E; Meyermann R; Uhlhaas S; Friedl W; Michaelis R
    Int J Mol Med; 1998 Feb; 1(2):333-7. PubMed ID: 9852234
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
    Kumps C; Niel Bütschi F; Rapin B; Baud D; Pescia G; Robyr D; Superti-Furga A; Unger S
    J Hum Genet; 2020 Nov; 65(11):1035-1038. PubMed ID: 32555312
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
    Mekkawy MK; Mazen IM; Kamel AK; Vater I; Zaki MS
    Am J Med Genet A; 2016 Apr; 170A(4):1050-8. PubMed ID: 26749249
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Secondary complex chromosome rearrangement identified by chromosome analysis and FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP array analysis.
    Burnside RD; Spudich L; Rush B; Kubendran S; Schaefer GB
    Cytogenet Genome Res; 2014; 142(2):129-33. PubMed ID: 24335332
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
    Eckel H; Wimmer R; Volleth M; Jakubiczka S; Muschke P; Wieacker P
    Am J Med Genet A; 2006 Jun; 140(11):1219-22. PubMed ID: 16652358
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome].
    Wang T; Ren C; Guo L; Lu J; Chen H; Huang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):571-573. PubMed ID: 31055807
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.
    Chen CP; Peng CR; Chern SR; Kuo YL; Wu PS; Town DD; Pan CW; Yang CW; Wang W
    Taiwan J Obstet Gynecol; 2014 Dec; 53(4):566-71. PubMed ID: 25510702
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.
    Sherlaw-Sturrock CA; Cassidy G; Glover K; Naik S
    Clin Dysmorphol; 2020 Jan; 29(1):65-68. PubMed ID: 31688096
    [No Abstract]   [Full Text] [Related]  

  • 14. A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
    Reddy KS; Larsen MB
    J Med Genet; 1998 Feb; 35(2):169-72. PubMed ID: 9507402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comparison of different techniques for detecting 17p12 duplication in CMT1A.
    Patitucci A; Muglia M; Magariello A; Gabriele AL; Peluso G; Sprovieri T; Conforti FL; Mazzei R; Ungaro C; Condino F; Valentino P; Bono F; Rodolico C; Mazzeo A; Toscano A; Vita G; Quattrone A
    Neuromuscul Disord; 2005 Jul; 15(7):488-92. PubMed ID: 15941660
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
    Goh ES; Banwell B; Stavropoulos DJ; Shago M; Yoon G
    Am J Med Genet A; 2014 Mar; 164A(3):748-52. PubMed ID: 24357149
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods].
    Hou D; Hou L; Dong H; Zhou Y; Zhou X; Ji Y; Ji X; Wang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1276-1279. PubMed ID: 33179239
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inheritance of CMT1A duplication from a mosaic father.
    Sorour E; Thompson P; MacMillan J; Upadhyaya M
    J Med Genet; 1995 Jun; 32(6):483-5. PubMed ID: 7666403
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.
    Choi BO; Kim NK; Park SW; Hyun YS; Jeon HJ; Hwang JH; Chung KW
    Neurogenetics; 2011 Feb; 12(1):51-8. PubMed ID: 21193943
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.
    Vogel I; Lyngbye T; Nielsen A; Pedersen S; Hertz JM
    Am J Med Genet A; 2009 Mar; 149A(3):510-4. PubMed ID: 19215056
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.