Kasch LM - Search Results

1

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. Among authors: kasch lm. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872

2

Genetic and environmental risk factors for sagittal craniosynostosis.

Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Zeiger JS, et al. J Craniofac Surg. 2002 Sep;13(5):602-6. doi: 10.1097/00001665-200209000-00002. J Craniofac Surg. 2002. PMID: 12218784

3

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.

Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Boyadjiev SA, et al. Cytogenet Genome Res. 2002;98(1):29-37. doi: 10.1159/000068535. Cytogenet Genome Res. 2002. PMID: 12584438

4

A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.

Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ. Stetten G, et al. Among authors: kasch lm. Am J Med Genet. 1997 Jan 10;68(1):76-81. Am J Med Genet. 1997. PMID: 8986281

5

Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease.

Brandt J, Quaid KA, Folstein SE, Garber P, Maestri NE, Abbott MH, Slavney PR, Franz ML, Kasch L, Kazazian HH Jr. Brandt J, et al. JAMA. 1989 Jun 2;261(21):3108-14. JAMA. 1989. PMID: 2523979

6

Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease.

Resar JR, Roguin A, Voner J, Nasir K, Hennebry TA, Miller JM, Ingersoll R, Kasch LM, Semenza GL. Resar JR, et al. Among authors: kasch lm. Chest. 2005 Aug;128(2):787-91. doi: 10.1378/chest.128.2.787. Chest. 2005. PMID: 16100168

7

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH Jr. Higuchi M, et al. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8307-11. doi: 10.1073/pnas.88.19.8307. Proc Natl Acad Sci U S A. 1991. PMID: 1924291 Free PMC article.

8

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE. Higuchi M, et al. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9. doi: 10.1073/pnas.88.16.7405. Proc Natl Acad Sci U S A. 1991. PMID: 1908096 Free PMC article.

9

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH Jr, Antonarakis SE. Cutting GR, et al. Among authors: kasch lm. N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407. N Engl J Med. 1990. PMID: 2233965 Free article. No abstract available.

10

The use of polymerase chain reaction to determine fetal RhD status.

Rossiter JP, Blakemore KJ, Kickler TS, Kasch LM, Khouzami AN, Pressman EK, Sciscione AC, Kazazian HH Jr. Rossiter JP, et al. Among authors: kasch lm. Am J Obstet Gynecol. 1994 Oct;171(4):1047-51. doi: 10.1016/0002-9378(94)90032-9. Am J Obstet Gynecol. 1994. PMID: 7943068 Clinical Trial.

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