Scambler P - Search Results

1

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M. Klamt B, et al. Among authors: scambler p. Hum Mol Genet. 1998 Apr;7(4):709-14. doi: 10.1093/hmg/7.4.709. Hum Mol Genet. 1998. PMID: 9499425

2

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CG. Koziell A, et al. Among authors: scambler p. Clin Endocrinol (Oxf). 2000 Apr;52(4):519-24. doi: 10.1046/j.1365-2265.2000.00980.x. Clin Endocrinol (Oxf). 2000. PMID: 10762296 Review.

3

Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.

Koziell AB, Grundy R, Barratt TM, Scambler P. Koziell AB, et al. Among authors: scambler p. Am J Hum Genet. 1999 Jun;64(6):1778-81. doi: 10.1086/302409. Am J Hum Genet. 1999. PMID: 10330366 Free PMC article. No abstract available.

4

Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.

Franke UC, Scambler PJ, Löffler C, Löns P, Hanefeld F, Zoll B, Hansmann I. Franke UC, et al. Among authors: scambler pj. Clin Genet. 1994 Aug;46(2):187-92. doi: 10.1111/j.1399-0004.1994.tb04222.x. Clin Genet. 1994. PMID: 7820929

5

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.

6

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Desmaze C, Scambler P, Prieur M, Halford S, Sidi D, Le Deist F, Aurias A. Desmaze C, et al. Among authors: scambler p. Hum Genet. 1993 Feb;90(6):663-5. doi: 10.1007/BF00202489. Hum Genet. 1993. PMID: 8444474

7

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. Among authors: scambler p. Am J Hum Genet. 1998 Oct;63(4):992-1000. doi: 10.1086/302070. Am J Hum Genet. 1998. PMID: 9758628 Free PMC article.

8

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.

Lindsay EA, Harvey EL, Scambler PJ, Baldini A. Lindsay EA, et al. Among authors: scambler pj. Hum Mol Genet. 1998 Apr;7(4):629-35. doi: 10.1093/hmg/7.4.629. Hum Mol Genet. 1998. PMID: 9499415

9

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

Kimber WL, Hsieh P, Hirotsune S, Yuva-Paylor L, Sutherland HF, Chen A, Ruiz-Lozano P, Hoogstraten-Miller SL, Chien KR, Paylor R, Scambler PJ, Wynshaw-Boris A. Kimber WL, et al. Among authors: scambler pj. Hum Mol Genet. 1999 Nov;8(12):2229-37. doi: 10.1093/hmg/8.12.2229. Hum Mol Genet. 1999. PMID: 10545603

10

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO. Twigg SR, et al. Among authors: scambler pj. Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409524 Free PMC article.

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