Chance PF - Search Results

1

Clinical and molecular analysis in Joubert syndrome.

Pellegrino JE, Lensch MW, Muenke M, Chance PF. Pellegrino JE, et al. Among authors: chance pf. Am J Med Genet. 1997 Oct 3;72(1):59-62. doi: 10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9295076

2

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

Pellegrino JE, Pellegrino L, Spinner NB, Sladky J, Chance PF, Zackai EH. Pellegrino JE, et al. Among authors: chance pf. Am J Med Genet. 1996 Feb 2;61(4):377-81. doi: 10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8834051

3

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

Kiyosawa H, Lensch MW, Chance PF. Kiyosawa H, et al. Among authors: chance pf. Hum Mol Genet. 1995 Dec;4(12):2327-34. doi: 10.1093/hmg/4.12.2327. Hum Mol Genet. 1995. PMID: 8634706

4

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.

5

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.

6

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al. Bone LJ, et al. Among authors: chance pf. Neurology. 1995 Oct;45(10):1863-6. doi: 10.1212/wnl.45.10.1863. Neurology. 1995. PMID: 7477983

7

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders.

Chance PF, Lensch MW, Lipe H, Brown RH Sr, Brown RH Jr, Bird TD. Chance PF, et al. Neurology. 1994 Dec;44(12):2253-7. doi: 10.1212/wnl.44.12.2253. Neurology. 1994. PMID: 7991108

8

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.

Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Pellegrino JE, et al. Among authors: chance pf. Neurology. 1996 Apr;46(4):1128-32. doi: 10.1212/wnl.46.4.1128. Neurology. 1996. PMID: 8780104

9

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.

Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF. Pellegrino JE, et al. Among authors: chance pf. Hum Genet. 1997 Dec;101(3):277-83. doi: 10.1007/s004390050629. Hum Genet. 1997. PMID: 9439655

10

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Bergoffen J, et al. Among authors: chance pf. Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101. Science. 1993. PMID: 8266101

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

108 results

Search Page

Filters