Scambler PJ - Search Results

1

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K. Matsuoka R, et al. Among authors: scambler pj. Hum Genet. 1998 Jul;103(1):70-80. doi: 10.1007/s004390050786. Hum Genet. 1998. PMID: 9737780

2

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J. Burn J, et al. J Med Genet. 1993 Oct;30(10):822-4. doi: 10.1136/jmg.30.10.822. J Med Genet. 1993. PMID: 8230157 Free PMC article.

3

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE. Carlson C, et al. Am J Hum Genet. 1997 Sep;61(3):620-9. doi: 10.1086/515508. Am J Hum Genet. 1997. PMID: 9326327 Free PMC article.

4

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, et al. Morrow B, et al. Am J Hum Genet. 1995 Jun;56(6):1391-403. Am J Hum Genet. 1995. PMID: 7762562 Free PMC article.

5

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.

O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P. O'Donnell H, et al. Am J Hum Genet. 1997 Jun;60(6):1544-8. doi: 10.1016/S0002-9297(07)64250-5. Am J Hum Genet. 1997. PMID: 9199579 Free PMC article. No abstract available.

6

Molecular genetics of 22q11.2 deletion syndrome.

Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Morrow BE, et al. Among authors: scambler pj. Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Am J Med Genet A. 2018. PMID: 30380194 Free PMC article. Review.

7

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J, et al. Wilson DI, et al. Among authors: scambler pj. Am J Hum Genet. 1992 Nov;51(5):957-63. Am J Hum Genet. 1992. PMID: 1415264 Free PMC article.

8

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. Hum Genet. 1993 Feb;90(6):663-5. doi: 10.1007/BF00202489. Hum Genet. 1993. PMID: 8444474

9

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.

Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman SM, Scambler P, Kucherlapati R. Sirotkin H, et al. Genomics. 1997 Apr 1;41(1):75-83. doi: 10.1006/geno.1997.4627. Genomics. 1997. PMID: 9126485 Free article.

10

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. Merscher S, et al. Cell. 2001 Feb 23;104(4):619-29. doi: 10.1016/s0092-8674(01)00247-1. Cell. 2001. PMID: 11239417 Free article.

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