Morell RJ - Search Results

1

Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D.

Lagziel A, Overlack N, Bernstein SL, Morell RJ, Wolfrum U, Friedman TB. Lagziel A, et al. Among authors: morell rj. Mol Vis. 2009 Sep 12;15:1843-57. Mol Vis. 2009. PMID: 19756182 Free PMC article.

2

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.

Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr. Morell R, et al. Hum Mol Genet. 1992 Jul;1(4):243-7. doi: 10.1093/hmg/1.4.243. Hum Mol Genet. 1992. PMID: 1303193

3

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.

4

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.

5

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.

6

A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1.

Barber TD, Morell R, Johnson DH, Asher JH Jr, Friedman TB. Barber TD, et al. Hum Mol Genet. 1993 Jan;2(1):88. doi: 10.1093/hmg/2.1.88. Hum Mol Genet. 1993. PMID: 8098246 No abstract available.

7

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

8

Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.

Morell R, Carey ML, Lalwani AK, Friedman TB, Asher JH Jr. Morell R, et al. Hum Hered. 1997 Jan-Feb;47(1):38-41. doi: 10.1159/000154387. Hum Hered. 1997. PMID: 9017978

9

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

10

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Vahava O, et al. Science. 1998 Mar 20;279(5358):1950-4. doi: 10.1126/science.279.5358.1950. Science. 1998. PMID: 9506947

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