Jeffery S - Search Results

1

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Among authors: jeffery s. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.

2

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S. Ion A, et al. Among authors: jeffery s. Hum Genet. 2002 Oct;111(4-5):421-7. doi: 10.1007/s00439-002-0803-6. Epub 2002 Aug 24. Hum Genet. 2002. PMID: 12384786 Review.

3

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD. Tartaglia M, et al. Among authors: jeffery s. Am J Hum Genet. 2004 Sep;75(3):492-7. doi: 10.1086/423493. Epub 2004 Jul 9. Am J Hum Genet. 2004. PMID: 15248152 Free PMC article.

4

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S. Kalidas K, et al. Among authors: jeffery s. J Hum Genet. 2005;50(1):21-25. doi: 10.1007/s10038-004-0212-x. Epub 2004 Dec 10. J Hum Genet. 2005. PMID: 15690106

5

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Tartaglia M, et al. Among authors: jeffery s. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759

6

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.

Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S. Brady AF, et al. Among authors: jeffery s. Eur J Hum Genet. 1997 Sep-Oct;5(5):336-7. Eur J Hum Genet. 1997. PMID: 9412792 No abstract available.

7

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH. Patel H, et al. Among authors: jeffery s. Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25. Am J Hum Genet. 2001. PMID: 11389484 Free PMC article.

8

The natural history of Noonan syndrome: a long-term follow-up study.

Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. Shaw AC, et al. Among authors: jeffery s. Arch Dis Child. 2007 Feb;92(2):128-32. doi: 10.1136/adc.2006.104547. Epub 2006 Sep 21. Arch Dis Child. 2007. PMID: 16990350 Free PMC article.

9

Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Jamieson CR, et al. Among authors: jeffery s. Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357. Nat Genet. 1994. PMID: 7894486

10

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR. Ali BR, et al. Among authors: jeffery s. Hum Genet. 2007 Nov;122(3-4):389-95. doi: 10.1007/s00439-007-0409-0. Epub 2007 Jul 31. Hum Genet. 2007. PMID: 17665217

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