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225 results
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Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: allanson je. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
Duplication 6p and deletion 9p.
Lytle C, Wade J, Farrier A, Flohrschutz F 3rd, Hecht B, Allanson J. Lytle C, et al. Among authors: allanson j. J Med Genet. 1989 Jan;26(1):64-6. doi: 10.1136/jmg.26.1.64. J Med Genet. 1989. PMID: 2918531 Free PMC article. No abstract available.
Severe Silver-Russell syndrome.
Donnai D, Thompson E, Allanson J, Baraitser M. Donnai D, et al. Among authors: allanson j. J Med Genet. 1989 Jul;26(7):447-51. doi: 10.1136/jmg.26.7.447. J Med Genet. 1989. PMID: 2746617 Free PMC article.
Nablus mask-like facial syndrome.
Allanson J. Allanson J. Am J Med Genet. 2001 Aug 1;102(2):212-3; author reply 214. doi: 10.1002/ajmg.1440. Am J Med Genet. 2001. PMID: 11477618 No abstract available.
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. Roberts A, et al. Among authors: allanson j. J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825433 Free PMC article. Review.
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D. Steiner C, et al. Among authors: allanson j. J Med Genet. 2004 Apr;41(4):266-9. doi: 10.1136/jmg.2003.012252. J Med Genet. 2004. PMID: 15060099 Free PMC article.
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Among authors: allanson j. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077
225 results