Richard G - Search Results

1

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Ralph D, et al. Among authors: richard g. Hum Mutat. 2022 Sep;43(9):1183-1200. doi: 10.1002/humu.24391. Epub 2022 May 18. Hum Mutat. 2022. PMID: 35475527 Free PMC article. Review.

2

Progress in epidermolysis bullosa: genetic classification and clinical implications.

Uitto J, Richard G. Uitto J, et al. Among authors: richard g. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):61-74. doi: 10.1002/ajmg.c.30035. Am J Med Genet C Semin Med Genet. 2004. PMID: 15468152 Review.

3

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.

Uitto J, Richard G. Uitto J, et al. Among authors: richard g. Clin Dermatol. 2005 Jan-Feb;23(1):33-40. doi: 10.1016/j.clindermatol.2004.09.015. Clin Dermatol. 2005. PMID: 15708287 Review.

4

Diseases of epidermal keratins and their linker proteins.

Uitto J, Richard G, McGrath JA. Uitto J, et al. Among authors: richard g. Exp Cell Res. 2007 Jun 10;313(10):1995-2009. doi: 10.1016/j.yexcr.2007.03.029. Epub 2007 Apr 24. Exp Cell Res. 2007. PMID: 17531221 Free PMC article. Review.

5

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Richard G, et al. Am J Hum Genet. 2002 May;70(5):1341-8. doi: 10.1086/339986. Epub 2002 Mar 22. Am J Hum Genet. 2002. PMID: 11912510 Free PMC article.

6

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E. Topaz O, et al. Among authors: richard g. Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24. Am J Hum Genet. 2006. PMID: 16960814 Free PMC article.

7

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.

Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J. Richard G, et al. Hum Genet. 2000 Mar;106(3):321-9. doi: 10.1007/s004390051045. Hum Genet. 2000. PMID: 10798362

8

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.

Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E. Chefetz I, et al. Among authors: richard g. Biochim Biophys Acta. 2009 Jan;1792(1):61-7. doi: 10.1016/j.bbadis.2008.09.016. Epub 2008 Oct 11. Biochim Biophys Acta. 2009. PMID: 18976705 Free PMC article.

9

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Nakano A, et al. Among authors: richard g. J Am Acad Dermatol. 2002 Apr;46(4):510-6. doi: 10.1067/mjd.2002.119673. J Am Acad Dermatol. 2002. PMID: 11907499

10

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Sprecher E, et al. Among authors: richard g. J Invest Dermatol. 2002 Sep;119(3):692-8. doi: 10.1046/j.1523-1747.2002.01855.x. J Invest Dermatol. 2002. PMID: 12230514 Free article.

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