Morell RJ - Search Results

1

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: morell rj. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 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

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

4

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.

5

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.

6

Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population.

Morell R, Liang Y, Asher JH Jr, Weber JL, Hinnant JT, Winata S, Arhya IN, Friedman TB. Morell R, et al. Hum Mol Genet. 1995 Jan;4(1):85-91. doi: 10.1093/hmg/4.1.85. Hum Mol Genet. 1995. PMID: 7711738

7

Dinucleotide repeat polymorphism at D14S542.

Carey ML, Liang Y, Barber TD, Morell R, Johnson DH, Cox S, Asher JH Jr, Friedman TB. Carey ML, et al. Hum Mol Genet. 1994 Sep;3(9):1712. doi: 10.1093/hmg/3.9.1712-a. Hum Mol Genet. 1994. PMID: 7833943 No abstract available.

8

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.

9

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.

10

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

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