Gelb BD - Search Results

1

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: gelb bd. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.

2

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Zhao F, et al. Among authors: gelb bd. Am J Hum Genet. 2001 Oct;69(4):695-703. doi: 10.1086/323410. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505339 Free PMC article.

3

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

4

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: gelb bd. 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.

5

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: gelb bd. 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.

6

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD. Tartaglia M, et al. Among authors: gelb bd. Nat Genet. 2003 Jun;34(2):148-50. doi: 10.1038/ng1156. Nat Genet. 2003. PMID: 12717436

7

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.

Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. Tartaglia M, et al. Among authors: gelb bd. Clin Genet. 2003 May;63(5):423-6. doi: 10.1034/j.1399-0004.2003.00076.x. Clin Genet. 2003. PMID: 12752577

8

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

Fragale A, Tartaglia M, Wu J, Gelb BD. Fragale A, et al. Among authors: gelb bd. Hum Mutat. 2004 Mar;23(3):267-77. doi: 10.1002/humu.20005. Hum Mutat. 2004. PMID: 14974085

9

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A. Tartaglia M, et al. Among authors: gelb bd. Blood. 2004 Jul 15;104(2):307-13. doi: 10.1182/blood-2003-11-3876. Epub 2004 Feb 24. Blood. 2004. PMID: 14982869 Free article.

10

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: gelb bd. 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.

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