Morell RJ - Search Results

1

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: morell rj. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 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

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.

7

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.

8

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

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

97 results

Search Page