Leppig KA - Search Results

1

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.

Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Linder JE, et al. Among authors: leppig ka. Am J Hum Genet. 2023 Nov 2;110(11):1950-1958. doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883979 Free PMC article.

2

Predictive value of minor anomalies: II. Use in cohort studies to identify teratogens.

Holmes LB, Kleiner BC, Leppig KA, Cann CI, Muñoz A, Polk BF. Holmes LB, et al. Among authors: leppig ka. Teratology. 1987 Dec;36(3):291-7. doi: 10.1002/tera.1420360304. Teratology. 1987. PMID: 3424217

3

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. Enns GM, et al. Among authors: leppig ka. J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658. J Pediatr. 2002. PMID: 12410200

4

Predictive value of minor anomalies. I. Association with major malformations.

Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB. Leppig KA, et al. J Pediatr. 1987 Apr;110(4):531-7. doi: 10.1016/s0022-3476(87)80543-7. J Pediatr. 1987. PMID: 3559800

5

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM, et al. Dahan K, et al. Among authors: leppig ka. Kidney Int. 1995 Dec;48(6):1900-6. doi: 10.1038/ki.1995.489. Kidney Int. 1995. PMID: 8587250 Free article.

6

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.

Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. Slavotinek A, et al. Among authors: leppig ka. J Med Genet. 2005 Sep;42(9):730-6. doi: 10.1136/jmg.2004.028787. J Med Genet. 2005. PMID: 16141010 Free PMC article.

7

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. Messiaen L, et al. JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. JAMA. 2009. PMID: 19920235

8

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA. Cunningham ML, et al. Among authors: leppig ka. Birth Defects Res A Clin Mol Teratol. 2006 Feb;76(2):78-85. doi: 10.1002/bdra.20231. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16463420 Review.

9

Minor malformations: significant or insignificant.

Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB. Leppig KA, et al. Am J Dis Child. 1988 Dec;142(12):1274. doi: 10.1001/archpedi.1988.02150120028024. Am J Dis Child. 1988. PMID: 3195523 No abstract available.

10

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. Parisi MA, et al. Among authors: leppig ka. J Med Genet. 2001 Jan;38(1):52-8. doi: 10.1136/jmg.38.1.52. J Med Genet. 2001. PMID: 11332402 Free PMC article. No abstract available.

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

108 results

Search Page