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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Goodman FR, Majewski F, Collins AL, Scambler PJ. Goodman FR, et al. Am J Hum Genet. 2002 Feb;70(2):547-55. doi: 10.1086/338921. Epub 2002 Jan 3. Am J Hum Genet. 2002. PMID: 11778160 Free PMC article.
The mutational spectrum of brachydactyly type C.
Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. Everman DB, et al. Among authors: goodman fr. Am J Med Genet. 2002 Oct 15;112(3):291-6. doi: 10.1002/ajmg.10777. Am J Med Genet. 2002. PMID: 12357473
Limb malformations and the human HOX genes.
Goodman FR. Goodman FR. Am J Med Genet. 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. Am J Med Genet. 2002. PMID: 12357469 Review.
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. Innis JW, et al. Among authors: goodman fr. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036. Hum Mutat. 2002. PMID: 11968094
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V. Caronia G, et al. Among authors: goodman fr. Development. 2003 Apr;130(8):1701-12. doi: 10.1242/dev.00396. Development. 2003. PMID: 12620993
Congenital abnormalities of body patterning: embryology revisited.
Goodman FR. Goodman FR. Lancet. 2003 Aug 23;362(9384):651-62. doi: 10.1016/S0140-6736(03)14187-6. Lancet. 2003. PMID: 12944067 Review.
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.
Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.
Tischkowitz M, Goodman F, Koliou M, Webster D, Edery P, Jones A, Wilson LC. Tischkowitz M, et al. Clin Genet. 2004 Dec;66(6):550-5. doi: 10.1111/j.1399-0004.2004.00349.x. Clin Genet. 2004. PMID: 15521984
Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. Slavotinek A, et al. Am J Med Genet. 1999 Sep 3;86(1):75-81. doi: 10.1002/(sici)1096-8628(19990903)86:1<75::aid-ajmg15>3.0.co;2-j. Am J Med Genet. 1999. PMID: 10440834
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P. Goodman F, et al. Am J Hum Genet. 1998 Oct;63(4):992-1000. doi: 10.1086/302070. Am J Hum Genet. 1998. PMID: 9758628 Free PMC article.
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