Mhatre AN - Search Results

1

Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy.

Mhatre AN, Trifiro MA, Kaufman M, Kazemi-Esfarjani P, Figlewicz D, Rouleau G, Pinsky L. Mhatre AN, et al. Nat Genet. 1993 Oct;5(2):184-8. doi: 10.1038/ng1093-184. Nat Genet. 1993. PMID: 8252045

2

Androgen resistance due to mutation of the androgen receptor.

Pinsky L, Trifiro M, Kaufman M, Beitel LK, Mhatre A, Kazemi-Esfarjani P, Sabbaghian N, Lumbroso R, Alvarado C, Vasiliou M, et al. Pinsky L, et al. Clin Invest Med. 1992 Oct;15(5):456-72. Clin Invest Med. 1992. PMID: 1458719 Review.

3

Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

Prior L, Bordet S, Trifiro MA, Mhatre A, Kaufman M, Pinsky L, Wrogeman K, Belsham DD, Pereira F, Greenberg C, et al. Prior L, et al. Am J Hum Genet. 1992 Jul;51(1):143-55. Am J Hum Genet. 1992. PMID: 1609793 Free PMC article.

4

An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.

Sai TJ, Seino S, Chang CS, Trifiro M, Pinsky L, Mhatre A, Kaufman M, Lambert B, Trapman J, Brinkmann AO, et al. Sai TJ, et al. Am J Hum Genet. 1990 Jun;46(6):1095-100. Am J Hum Genet. 1990. PMID: 2339702 Free PMC article.

5

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.

Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN. Lalwani AK, et al. Among authors: mhatre an. Am J Hum Genet. 2000 Nov;67(5):1121-8. doi: 10.1016/S0002-9297(07)62942-5. Epub 2000 Oct 9. Am J Hum Genet. 2000. PMID: 11023810 Free PMC article.

6

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E. Lalwani AK, et al. Am J Med Genet. 1998 Dec 4;80(4):406-9. Am J Med Genet. 1998. PMID: 9856573

7

A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.

Lalwani AK, Luxford WM, Mhatre AN, Attaie A, Wilcox ER, Castelein CM. Lalwani AK, et al. Among authors: mhatre an. Am J Hum Genet. 1999 Jan;64(1):318-23. doi: 10.1086/302216. Am J Hum Genet. 1999. PMID: 9915977 Free PMC article. No abstract available.

8

Genotype-phenotype correlations in type 1 Waardenburg syndrome.

Lalwani AK, Mhatre AN, San Agustin TB, Wilcox ER. Lalwani AK, et al. Among authors: mhatre an. Laryngoscope. 1996 Jul;106(7):895-902. doi: 10.1097/00005537-199607000-00021. Laryngoscope. 1996. PMID: 8667990

9

DFNA54, a third locus for low-frequency hearing loss.

Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK. Gürtler N, et al. J Mol Med (Berl). 2004 Nov;82(11):775-80. doi: 10.1007/s00109-004-0597-1. Epub 2004 Oct 13. J Mol Med (Berl). 2004. PMID: 15490091

10

Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss.

Mhatre AN, Janssens S, Nardi MA, Li Y, Lalwani AK. Mhatre AN, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):185-90. doi: 10.1016/j.ejmg.2009.02.010. Epub 2009 Mar 12. Eur J Med Genet. 2009. PMID: 19285578

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