Grundfast KM - Search Results

1

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

Farrer LA, Arnos KS, Asher JH Jr, Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, et al. Farrer LA, et al. Among authors: grundfast km. Am J Hum Genet. 1994 Oct;55(4):728-37. Am J Hum Genet. 1994. PMID: 7942851 Free PMC article.

2

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al. Farrer LA, et al. Among authors: grundfast km. Am J Hum Genet. 1992 May;50(5):902-13. Am J Hum Genet. 1992. PMID: 1349198 Free PMC article.

3

Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.

Lalwani AK, Brister JR, Fex J, Grundfast KM, Ploplis B, San Agustin TB, Wilcox ER. Lalwani AK, et al. Among authors: grundfast km. Am J Hum Genet. 1995 Jan;56(1):75-83. Am J Hum Genet. 1995. PMID: 7825605 Free PMC article.

4

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER. Lalwani AK, et al. Among authors: grundfast km. Am J Hum Genet. 1994 Oct;55(4):685-94. Am J Hum Genet. 1994. PMID: 7942846 Free PMC article.

5

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.

Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC, Friedman TB, Morell RJ. Peters LM, et al. Among authors: grundfast km. Hum Mol Genet. 2002 Nov 1;11(23):2877-85. doi: 10.1093/hmg/11.23.2877. Hum Mol Genet. 2002. PMID: 12393799

6

A role for the otolaryngologist in identification and discovery of genetic disorders and chromosomal abnormalities.

Lalwani AK, Grundfast KM. Lalwani AK, et al. Among authors: grundfast km. Arch Otolaryngol Head Neck Surg. 1993 Oct;119(10):1074-81. doi: 10.1001/archotol.1993.01880220018005. Arch Otolaryngol Head Neck Surg. 1993. PMID: 8398060 No abstract available.

7

Practical approach to diagnosis and management of hereditary hearing impairment (HHI).

Grundfast KM, Lalwani AK. Grundfast KM, et al. Ear Nose Throat J. 1992 Oct;71(10):479-84, 487-93. Ear Nose Throat J. 1992. PMID: 1425370 Review. No abstract available.

8

Finding the gene(s) for Waardenburg syndrome(s).

Grundfast KM, San Agustin TB. Grundfast KM, et al. Otolaryngol Clin North Am. 1992 Oct;25(5):935-51. Otolaryngol Clin North Am. 1992. PMID: 1408197 Review.

9

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ. Ni L, et al. Among authors: grundfast km. Am J Med Genet. 1994 Jun 1;51(2):176-84. doi: 10.1002/ajmg.1320510222. Am J Med Genet. 1994. PMID: 8092199

10

Genetics and molecular biology of deafness. Update.

Grundfast KM, Siparsky N, Chuong D. Grundfast KM, et al. Otolaryngol Clin North Am. 2000 Dec;33(6):1367-94. doi: 10.1016/s0030-6665(05)70287-5. Otolaryngol Clin North Am. 2000. PMID: 11449793 Free article. Review.

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