HD01294/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2000	2
2004	5
2005	6
2006	3
2007	4
2008	2
2009	3
2024	0

1

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7. Am J Hum Genet. 2006. PMID: 16358218 Free PMC article.

2

Genetic basis of congenital heart disease.

Gelb BD. Gelb BD. Curr Opin Cardiol. 2004 Mar;19(2):110-5. doi: 10.1097/00001573-200403000-00007. Curr Opin Cardiol. 2004. PMID: 15075735 Review.

3

Germ-line and somatic PTPN11 mutations in human disease.

Tartaglia M, Gelb BD. Tartaglia M, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):81-96. doi: 10.1016/j.ejmg.2005.03.001. Epub 2005 Apr 2. Eur J Med Genet. 2005. PMID: 16053901 Review.

4

Noonan syndrome and related disorders: genetics and pathogenesis.

Tartaglia M, Gelb BD. Tartaglia M, et al. Annu Rev Genomics Hum Genet. 2005;6:45-68. doi: 10.1146/annurev.genom.6.080604.162305. Annu Rev Genomics Hum Genet. 2005. PMID: 16124853 Review.

5

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M. Gelb BD, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. doi: 10.1093/hmg/ddl197. Hum Mol Genet. 2006. PMID: 16987887 Review.

6

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Fratzl-Zelman N, et al. J Clin Endocrinol Metab. 2004 Apr;89(4):1538-47. doi: 10.1210/jc.2003-031055. J Clin Endocrinol Metab. 2004. PMID: 15070910 Review.

7

The genetics of congenital heart disease: a review of recent developments.

Weismann CG, Gelb BD. Weismann CG, et al. Curr Opin Cardiol. 2007 May;22(3):200-6. doi: 10.1097/HCO.0b013e3280f629c7. Curr Opin Cardiol. 2007. PMID: 17413276 Review.

8

Recent advances in the understanding of genetic causes of congenital heart defects.

Gelb BD. Gelb BD. Front Biosci. 2000 Mar 1;5:D321-33. doi: 10.2741/gelb. Front Biosci. 2000. PMID: 10704426 Review.

9

PTPN11 mutations play a minor role in isolated congenital heart disease.

Weismann CG, Hager A, Kaemmerer H, Maslen CL, Morris CD, Schranz D, Kreuder J, Gelb BD. Weismann CG, et al. Am J Med Genet A. 2005 Jul 15;136(2):146-51. doi: 10.1002/ajmg.a.30789. Am J Med Genet A. 2005. PMID: 15940693

10

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

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