Hopkin RJ - Search Results

1

Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status.

Multhaupt-Buell TJ, Lovell A, Mills L, Stanford KE, Hopkin RJ. Multhaupt-Buell TJ, et al. Among authors: hopkin rj. Genet Med. 2007 Feb;9(2):101-7. doi: 10.1097/gim.0b013e3180306899. Genet Med. 2007. PMID: 17304051

2

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Sebold CD, et al. J Adolesc Health. 2004 Oct;35(4):297-302. doi: 10.1016/j.jadohealth.2003.10.003. J Adolesc Health. 2004. PMID: 15450543

3

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.

Street NJ, Yi MS, Bailey LA, Hopkin RJ. Street NJ, et al. Among authors: hopkin rj. Genet Med. 2006 Jun;8(6):346-53. doi: 10.1097/01.gim.0000223545.63012.5a. Genet Med. 2006. PMID: 16778596 Free article.

4

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Wilcox WR, et al. Among authors: hopkin rj. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18037317

5

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923

6

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

Prada CE, Rangwala FA, Martin LJ, Lovell AM, Saal HM, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. J Pediatr. 2012 Mar;160(3):461-7. doi: 10.1016/j.jpeds.2011.08.051. Epub 2011 Oct 11. J Pediatr. 2012. PMID: 21996156

7

Delineating the phenotype of 1p36 deletion in adolescents and adults.

Brazil A, Stanford K, Smolarek T, Hopkin R. Brazil A, et al. Am J Med Genet A. 2014 Oct;164A(10):2496-503. doi: 10.1002/ajmg.a.36657. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25044719

8

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK. Prada CE, et al. Among authors: hopkin rj. J Pediatr. 2015 Oct;167(4):851-856.e1. doi: 10.1016/j.jpeds.2015.07.001. Epub 2015 Jul 29. J Pediatr. 2015. PMID: 26233602 Free PMC article.

9

Genomic education for the next generation of health-care providers.

Campion M, Goldgar C, Hopkin RJ, Prows CA, Dasgupta S. Campion M, et al. Among authors: hopkin rj. Genet Med. 2019 Nov;21(11):2422-2430. doi: 10.1038/s41436-019-0548-4. Epub 2019 May 21. Genet Med. 2019. PMID: 31110330 Free article. Review.

10

New insights into the phenotypes of 6q deletions.

Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Hopkin RJ, et al. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.

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