Morell RJ - Search Results

1

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Morell RJ, Olszewski R, Tona R, Leitess S, Wafa TT, Taukulis I, Schultz JM, Thomason EJ, Richards K, Whitley BN, Hill C, Saunders T, Starost MF, Fitzgerald T, Wilson E, Ohyama T, Friedman TB, Hoa M. Morell RJ, et al. J Neurosci. 2020 Apr 8;40(15):2976-2992. doi: 10.1523/JNEUROSCI.2278-19.2020. Epub 2020 Mar 9. J Neurosci. 2020. PMID: 32152201 Free PMC article.

2

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Asher JH Jr, Morell R, Friedman TB. Asher JH Jr, et al. Am J Hum Genet. 1991 Jan;48(1):43-52. Am J Hum Genet. 1991. PMID: 1670751 Free PMC article.

3

Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.

Asher JH Jr, Morell R, Friedman TB. Asher JH Jr, et al. Ann N Y Acad Sci. 1991;630:295-7. doi: 10.1111/j.1749-6632.1991.tb19611.x. Ann N Y Acad Sci. 1991. PMID: 1683205 No abstract available.

4

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

Morell R, Friedman TB, Asher JH Jr. Morell R, et al. Hum Mol Genet. 1993 Sep;2(9):1487-8. doi: 10.1093/hmg/2.9.1487. Hum Mol Genet. 1993. PMID: 7902163 No abstract available.

5

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Asher JH Jr, Sommer A, Morell R, Friedman TB. Asher JH Jr, et al. Hum Mutat. 1996;7(1):30-5. doi: 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T. Hum Mutat. 1996. PMID: 8664898

6

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

Asher JH Jr, Harrison RW, Morell R, Carey ML, Friedman TB. Asher JH Jr, et al. Genomics. 1996 Jun 15;34(3):285-98. doi: 10.1006/geno.1996.0289. Genomics. 1996. PMID: 8786127

7

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. Morell R, et al. Hum Mol Genet. 1997 May;6(5):659-64. doi: 10.1093/hmg/6.5.659. Hum Mol Genet. 1997. PMID: 9158138

8

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Morell R, Friedman TB, Asher JH Jr, Robbins LG. Morell R, et al. J Med Genet. 1997 Jun;34(6):447-52. doi: 10.1136/jmg.34.6.447. J Med Genet. 1997. PMID: 9192262 Free PMC article. Review.

9

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA. Probst FJ, et al. Among authors: morell rj. Science. 1998 May 29;280(5368):1444-7. doi: 10.1126/science.280.5368.1444. Science. 1998. PMID: 9603735

10

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. Wang A, et al. Among authors: morell rj. Science. 1998 May 29;280(5368):1447-51. doi: 10.1126/science.280.5368.1447. Science. 1998. PMID: 9603736

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