Crosby AH - Search Results

1

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: crosby ah. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759

2

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. 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.

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. 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

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: crosby ah. 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.

5

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: crosby ah. 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

6

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.

Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Ion A, et al. Among authors: crosby ah. J Med Genet. 2000 Nov;37(11):884-6. doi: 10.1136/jmg.37.11.884. J Med Genet. 2000. PMID: 11185075 Free PMC article. No abstract available.

7

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: crosby ah. 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.

8

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. Eur J Hum Genet. 1997 Sep-Oct;5(5):336-7. Eur J Hum Genet. 1997. PMID: 9412792 No abstract available.

9

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH. Simpson MA, et al. Among authors: crosby ah. Anim Genet. 2009 Feb;40(1):42-6. doi: 10.1111/j.1365-2052.2008.01796.x. Epub 2008 Nov 11. Anim Genet. 2009. PMID: 19016676

10

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. Patel H, et al. Among authors: crosby ah. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134148

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

152 results

Search Page

Filters