Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

40 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Wang M, Clericuzio CL, Godfrey M. Wang M, et al. Among authors: clericuzio cl. Am J Hum Genet. 1996 Nov;59(5):1027-34. Am J Hum Genet. 1996. PMID: 8900230 Free PMC article.
Clinical and molecular genetic features of ARC syndrome.
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
Gripp KW, Donnai D, Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH. Gripp KW, et al. Among authors: clericuzio cl. Am J Med Genet. 1997 Feb 11;68(4):441-4. doi: 10.1002/(sici)1096-8628(19970211)68:4<441::aid-ajmg13>;2-s. Am J Med Genet. 1997. PMID: 9021018
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. McMillin MJ, et al. Among authors: clericuzio cl. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Among authors: clericuzio cl. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.
Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al. Grebe TA, et al. Am J Hum Genet. 1992 Oct;51(4):736-40. Am J Hum Genet. 1992. PMID: 1384321 Free PMC article.
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
Grebe TA, Clericuzio C. Grebe TA, et al. Am J Med Genet. 2000 Nov 13;95(2):135-43. Am J Med Genet. 2000. PMID: 11078563
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schäffer A, Abbott M, Biesecker LG. Kang S, et al. J Med Genet. 1997 Jun;34(6):441-6. doi: 10.1136/jmg.34.6.441. J Med Genet. 1997. PMID: 9192261 Free PMC article.
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
Biesecker LG, Kang S, Schäffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Olney A, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1996 Nov;33(11):947-51. doi: 10.1136/jmg.33.11.947. J Med Genet. 1996. PMID: 8950676 Free PMC article.
Report from the workshop on Pallister-Hall syndrome and related phenotypes.
Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. Biesecker LG, et al. Am J Med Genet. 1996 Oct 2;65(1):76-81. doi: 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8914745 No abstract available.
40 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page