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 *

231 related articles for article (PubMed ID: 16906536)

  • 21. Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
    Sanlaville D; Aubry MC; Dumez Y; Nolen MC; Amiel J; Pinson MP; Lyonnet S; Munnich A; Vekemans M; Morichon-Delvallez N
    J Med Genet; 2000 Jul; 37(7):525-8. PubMed ID: 10882756
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.
    Kotzot D
    Ann Genet; 2004; 47(3):251-60. PubMed ID: 15337470
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
    Inoue T; Yagasaki H; Nishioka J; Nakamura A; Matsubara K; Narumi S; Nakabayashi K; Yamazawa K; Fuke T; Oka A; Ogata T; Fukami M; Kagami M
    J Med Genet; 2019 Jun; 56(6):413-418. PubMed ID: 30242100
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
    Gold JA; Mahmoud R; Cassidy SB; Kimonis V
    Am J Med Genet A; 2018 May; 176(5):1161-1165. PubMed ID: 29681103
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
    Yang L; Zhou Q; Ma B; Mao S; Dai Y; Zhu M; Zou C
    Orphanet J Rare Dis; 2020 Jan; 15(1):24. PubMed ID: 31964399
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Calounova G; Novotna D; Simandlova M; Havlovicova M; Zumrová A; Kocarek E; Sedlacek Z
    Neuro Endocrinol Lett; 2006 Oct; 27(5):579-85. PubMed ID: 17159828
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
    Santoro SL; Hashimoto S; McKinney A; Mihalic Mosher T; Pyatt R; Reshmi SC; Astbury C; Hickey SE
    Cytogenet Genome Res; 2017; 152(2):105-109. PubMed ID: 28746920
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prader-Willi syndrome: genetic tests and clinical findings.
    Fridman C; Varela MC; Kok F; Setian N; Koiffmann CP
    Genet Test; 2000; 4(4):387-92. PubMed ID: 11216664
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
    Corsello G; Salzano E; Vecchio D; Antona V; Grasso M; Malacarne M; Carella M; Palumbo P; Piro E; Giuffrè M
    Am J Med Genet A; 2015 Dec; 167A(12):3130-8. PubMed ID: 26333487
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
    Rosenfeld JA; Fox JE; Descartes M; Brewer F; Stroud T; Gorski JL; Upton SJ; Moeschler JB; Monteleone B; Neill NJ; Lamb AN; Ballif BC; Shaffer LG; Ravnan JB
    Am J Med Genet A; 2015 Feb; 167A(2):345-53. PubMed ID: 25756153
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
    Liehr T; Brude E; Gillessen-Kaesbach G; König R; Mrasek K; von Eggeling F; Starke H
    Eur J Med Genet; 2005; 48(2):175-81. PubMed ID: 16053909
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
    Tannorella P; Minervino D; Guzzetti S; Vimercati A; Calzari L; Patti G; Maghnie M; Allegri AEM; Milani D; Scuvera G; Mariani M; Modena P; Selicorni A; Larizza L; Russo S
    Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33920573
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
    Giardina E; Peconi C; Cascella R; Sinibaldi C; Nardone AM; Novelli G
    Electrophoresis; 2008 Dec; 29(23):4775-9. PubMed ID: 19053076
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
    Behnecke A; Hinderhofer K; Jauch A; Janssen JW; Moog U
    Clin Genet; 2012 Nov; 82(5):494-8. PubMed ID: 21954990
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and genetic analysis for four Chinese families with Prader-Willi syndrome.
    Zhang YW; Jia HY; Hong J; Ge Y; Zhang HJ; Shen CF; Ye L; Cui B; Li XY; Gu WQ; Zhang YF; Wang WQ; Ning G
    Endocrine; 2009 Aug; 36(1):37-44. PubMed ID: 19421899
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
    Salavoura K; Kolialexi A; Sofocleous C; Kalaitzidaki M; Pampanos A; Kitsiou S; Mavrou A
    Genet Couns; 2008; 19(2):219-24. PubMed ID: 18618997
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder.
    Dudley O; Muscatelli F
    Early Hum Dev; 2007 Jul; 83(7):471-8. PubMed ID: 17055193
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.
    Dietz LG; Wylie AA; Rauen KA; Murphy SK; Jirtle RL; Cotter PD
    J Med Genet; 2003 Apr; 40(4):e46. PubMed ID: 12676919
    [No Abstract]   [Full Text] [Related]  

  • 39. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.
    Matsubara K; Murakami N; Fukami M; Kagami M; Nagai T; Ogata T
    Clin Genet; 2016 May; 89(5):614-9. PubMed ID: 26526156
    [TBL] [Abstract][Full Text] [Related]  

  • 40. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.
    Hjortshøj TD; Sørensen AR; Yusibova M; Hansen BM; Dunø M; Balslev-Harder M; Grønskov K; van Hagen JM; Polstra AM; Eggermann T; Finken MJJ; Tümer Z
    Clin Genet; 2020 Jun; 97(6):902-907. PubMed ID: 32087029
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.