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Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.
Bernhardt BA, Zayac C, Trerotola SO, Asch DA, Pyeritz RE. Bernhardt BA, et al. Genet Med. 2012 Jun;14(6):604-10. doi: 10.1038/gim.2011.56. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281938
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. Gallione C, et al. Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206. Am J Med Genet A. 2010. PMID: 20101697
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22. J Med Genet. 2018. PMID: 30244195
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE; ACMG Social Ethical Legal Issues Committee. David KL, et al. Among authors: pyeritz re. Genet Med. 2019 Apr;21(4):769-771. doi: 10.1038/s41436-018-0391-z. Epub 2018 Dec 22. Genet Med. 2019. PMID: 30578420 No abstract available.
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.
Reiff M, Bernhardt BA, Mulchandani S, Soucier D, Cornell D, Pyeritz RE, Spinner NB. Reiff M, et al. Genet Med. 2012 Feb;14(2):250-8. doi: 10.1038/gim.2011.52. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241091 Free PMC article.
Evaluation of the adolescent or adult with some features of Marfan syndrome.
Pyeritz RE; American College of Medical Genetics and Genomics. Pyeritz RE, et al. Genet Med. 2012 Jan;14(1):171-7. doi: 10.1038/gim.2011.48. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22237449
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