Kwiatkowski DJ - Search Results

1

Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease.

Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Silverman EK, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 2002 May;70(5):1229-39. doi: 10.1086/340316. Epub 2002 Mar 25. Am J Hum Genet. 2002. PMID: 11914989 Free PMC article.

2

Dinucleotide repeat polymorphism at the IFNA locus (9p22).

Kwiatkowski DJ, Diaz MO. Kwiatkowski DJ, et al. Hum Mol Genet. 1992 Nov;1(8):658. doi: 10.1093/hmg/1.8.658-a. Hum Mol Genet. 1992. PMID: 1301184 No abstract available.

3

Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.

Henske EP, Short MP, Jozwiak S, Bovey CM, Ramlakhan S, Haines JL, Kwiatkowski DJ. Henske EP, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1995 Jan;59(1):25-37. doi: 10.1111/j.1469-1809.1995.tb01603.x. Ann Hum Genet. 1995. PMID: 7762982

4

An index marker map of chromosome 9 provides strong evidence for positive interference.

Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. Kwiatkowski DJ, et al. Am J Hum Genet. 1993 Dec;53(6):1279-88. Am J Hum Genet. 1993. PMID: 8250044 Free PMC article.

5

A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference.

Zahn LM, Kwiatkowski DJ. Zahn LM, et al. Among authors: kwiatkowski dj. Genomics. 1995 Jul 20;28(2):140-6. doi: 10.1006/geno.1995.1124. Genomics. 1995. PMID: 8530019

6

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ. Henske EP, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 1996 Aug;59(2):400-6. Am J Hum Genet. 1996. PMID: 8755927 Free PMC article.

7

Fine mapping of the nail-patella syndrome locus at 9q34.

McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. McIntosh I, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 1997 Jan;60(1):133-42. Am J Hum Genet. 1997. PMID: 8981956 Free PMC article.

8

Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.

Humphrey D, Kwiatkowska J, Henske EP, Haines JL, Halley D, van Slegtenhorst M, Kwiatkowski DJ. Humphrey D, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1997 Jul;61(Pt 4):299-305. doi: 10.1046/j.1469-1809.1997.6140299.x. Ann Hum Genet. 1997. PMID: 9365783

9

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1998 Jul;62(Pt 4):277-85. doi: 10.1046/j.1469-1809.1998.6240277.x. Ann Hum Genet. 1998. PMID: 9924605

10

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.

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