Scambler PJ - Search Results

1

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: scambler pj. Development. 2003 Apr;130(8):1701-12. doi: 10.1242/dev.00396. Development. 2003. PMID: 12620993

2

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Goodman FR, Majewski F, Collins AL, Scambler PJ. Goodman FR, et al. Among authors: scambler pj. 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.

3

Human HOX gene mutations.

Goodman FR, Scambler PJ. Goodman FR, et al. Among authors: scambler pj. Clin Genet. 2001 Jan;59(1):1-11. doi: 10.1034/j.1399-0004.2001.590101.x. Clin Genet. 2001. PMID: 11206481 Review.

4

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.

5

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Goodman FR, et al. Among authors: scambler pj. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63. doi: 10.1073/pnas.94.14.7458. Proc Natl Acad Sci U S A. 1997. PMID: 9207113 Free PMC article.

6

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: scambler pj. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036. Hum Mutat. 2002. PMID: 11968094 Free article.

7

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: scambler pj. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.

8

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Debeer P, et al. Among authors: scambler pj. J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852. J Med Genet. 2002. PMID: 12414828 Free PMC article. No abstract available.

9

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Shears DJ, et al. Among authors: scambler pj. Nat Genet. 1998 May;19(1):70-3. doi: 10.1038/ng0198-70. Nat Genet. 1998. PMID: 9590293

10

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. Morgan NV, et al. Among authors: scambler pj. J Med Genet. 2003 Jun;40(6):431-5. doi: 10.1136/jmg.40.6.431. J Med Genet. 2003. PMID: 12807964 Free PMC article.

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