Morell RJ - Search Results

1

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Ahmed ZM, et al. Among authors: morell rj. Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953341 Free PMC article.

2

GZMK+CD8+ T cells Target a Specific Acinar Cell Type in Sjögren's Disease.

Warner B, Pranzatelli T, Perez P, Ku A, Matuck BF, Huynh K, Sakai S, Abed M, Jang SI, Yamada E, Dominick K, Ahmed Z, Oliver A, Wasikowski R, Easter Q, Magone MT, Baer A, Pelayo E, Khavandgar Z, Gupta S, Kleiner D, Lessard C, Farris A, Martin D, Morell R, Zheng C, Rachmaninoff N, Maldonado-Ortiz J, Qu X, Aure M, Dezfulian M, Lake R, Teichmann S, Barber D, Tsoi L, Sowalsky A, Tyc K, Gudjonsson J, Byrd K, Johnson P, Liu J, Chiorini J. Warner B, et al. Res Sq [Preprint]. 2023 Dec 19:rs.3.rs-3601404. doi: 10.21203/rs.3.rs-3601404/v1. Res Sq. 2023. PMID: 38196575 Free PMC article. Preprint.

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

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

8

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

9

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.

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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