Hofstra R - Search Results

1

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.

Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I. Griseri P, et al. Among authors: hofstra r. Eur J Hum Genet. 2000 Sep;8(9):721-4. doi: 10.1038/sj.ejhg.5200521. Eur J Hum Genet. 2000. PMID: 10980580

2

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. Griseri P, et al. Among authors: hofstra r. Am J Hum Genet. 2002 Oct;71(4):969-74. doi: 10.1086/342774. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214285 Free PMC article.

3

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, Mognato G, Hofstra RM, Gimelli G, Ceccherini I. Griseri P, et al. Among authors: hofstra rm. Eur J Hum Genet. 2009 Apr;17(4):483-90. doi: 10.1038/ejhg.2008.191. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19300444 Free PMC article.

4

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Jiang Q, et al. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. Am J Hum Genet. 2015. PMID: 25839327 Free PMC article.

5

Exon structure and flanking intronic sequences of the human RET proto-oncogene.

Ceccherini I, Bocciardi R, Luo Y, Pasini B, Hofstra R, Takahashi M, Romeo G. Ceccherini I, et al. Among authors: hofstra r. Biochem Biophys Res Commun. 1993 Nov 15;196(3):1288-95. doi: 10.1006/bbrc.1993.2392. Biochem Biophys Res Commun. 1993. PMID: 7902707

6

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, et al. Ceccherini I, et al. Among authors: hofstra rm. Oncogene. 1994 Oct;9(10):3025-9. Oncogene. 1994. PMID: 8084609

7

The physical map of the human RET proto-oncogene.

Pasini B, Hofstra RM, Yin L, Bocciardi R, Santamaria G, Grootscholten PM, Ceccherini I, Patrone G, Priolo M, Buys CH, et al. Pasini B, et al. Among authors: hofstra rm. Oncogene. 1995 Nov 2;11(9):1737-43. Oncogene. 1995. PMID: 7478601

8

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Burzynski GM, et al. Eur J Hum Genet. 2004 Aug;12(8):604-12. doi: 10.1038/sj.ejhg.5201199. Eur J Hum Genet. 2004. PMID: 15138456

9

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.

10

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC article.

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