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1,240 results

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Page 1
Identification of mutations in CUL7 in 3-M syndrome.
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Huber C, et al. Among authors: read a. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236
Inherited eye disease: cause and late effect.
Manson FD, Trump D, Read AP, Black GC. Manson FD, et al. Trends Mol Med. 2005 Oct;11(10):449-55. doi: 10.1016/j.molmed.2005.08.001. Epub 2005 Sep 8. Trends Mol Med. 2005. PMID: 16153893 Review.
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rüdiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N. Hewitt C, et al. Hum Mutat. 2004 Mar;23(3):222-8. doi: 10.1002/humu.10314. Hum Mutat. 2004. PMID: 14974080
The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.
Toomes C, Jackson A, Maguire K, Wood J, Gollin S, Ishwad C, Paterson I, Prime S, Parkinson K, Bell S, Woods G, Markham A, Oliver R, Woodward R, Sloan P, Dixon M, Read A, Thakker N. Toomes C, et al. Among authors: read a. Genes Chromosomes Cancer. 2003 Jun;37(2):132-40. doi: 10.1002/gcc.10191. Genes Chromosomes Cancer. 2003. PMID: 12696061
Germline mutation of ARF in a melanoma kindred.
Hewitt C, Lee Wu C, Evans G, Howell A, Elles RG, Jordan R, Sloan P, Read AP, Thakker N. Hewitt C, et al. Among authors: read ap. Hum Mol Genet. 2002 May 15;11(11):1273-9. doi: 10.1093/hmg/11.11.1273. Hum Mol Genet. 2002. PMID: 12019208
Molecular genetics in the National Health Service in Britain.
Harris R, Elles R, Craufurd D, Dodge A, Ivinson A, Hodgkinson K, Mountford R, Schwartz M, Strachan T, Read A. Harris R, et al. Among authors: read a. J Med Genet. 1989 Apr;26(4):219-25. doi: 10.1136/jmg.26.4.219. J Med Genet. 1989. PMID: 2523972 Free PMC article.
SLUG (SNAI2) deletions in patients with Waardenburg disease.
Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP, Sánchez-García I. Sánchez-Martín M, et al. Among authors: read ap. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. doi: 10.1093/hmg/11.25.3231. Hum Mol Genet. 2002. PMID: 12444107
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.
Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC. Becker F, et al. Among authors: read a. Eur J Hum Genet. 2011 Apr;19 Suppl 1(Suppl 1):S6-44. doi: 10.1038/ejhg.2010.249. Eur J Hum Genet. 2011. PMID: 21412252 Free PMC article. Review. No abstract available.
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: read a. Eur J Hum Genet. 2022 May;30(5):628. doi: 10.1038/s41431-022-01067-0. Eur J Hum Genet. 2022. PMID: 35283483 Free PMC article. No abstract available.
1,240 results