Bergoffen J - Search Results

1

Paternal transmission of congenital myotonic dystrophy.

Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Bergoffen J, et al. J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518. J Med Genet. 1994. PMID: 7966187 Free PMC article.

2

Familial autoimmune myasthenia gravis.

Bergoffen J, Zmijewski CM, Fischbeck KH. Bergoffen J, et al. Neurology. 1994 Mar;44(3 Pt 1):551-4. doi: 10.1212/wnl.44.3_part_1.551. Neurology. 1994. PMID: 7908425

3

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE. Cochrane S, et al. Among authors: bergoffen j. J Med Genet. 1994 Mar;31(3):193-6. doi: 10.1136/jmg.31.3.193. J Med Genet. 1994. PMID: 7912286 Free PMC article.

4

Linkage localization of X-linked Charcot-Marie-Tooth disease.

Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Bergoffen J, et al. Am J Hum Genet. 1993 Feb;52(2):312-8. Am J Hum Genet. 1993. PMID: 8430694 Free PMC article.

5

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH. Bergoffen J, et al. J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2. J Pediatr. 1993. PMID: 8463911

6

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. Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101. Science. 1993. PMID: 8266101

7

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exler MC, Fain PR, Fairweather ND, Fischbeck K, et al. Pericak-Vance MA, et al. Among authors: bergoffen ja. Hum Hered. 1995 May-Jun;45(3):121-8. doi: 10.1159/000154272. Hum Hered. 1995. PMID: 7615296

8

Clinical and molecular characterization of patients with distal 11q deletions.

Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al. Penny LA, et al. Among authors: bergoffen j. Am J Hum Genet. 1995 Mar;56(3):676-83. Am J Hum Genet. 1995. PMID: 7887422 Free PMC article.

9

Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects.

Heckmann JM, Morrison KE, Emeryk-Szajewska B, Strugalska H, Bergoffen J, Willcox N, Newsom-Davis J. Heckmann JM, et al. Among authors: bergoffen j. J Autoimmun. 1996 Apr;9(2):175-80. doi: 10.1006/jaut.1996.0021. J Autoimmun. 1996. PMID: 8738961

10

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E. Herasse M, et al. Among authors: bergoffen j. J Med Genet. 2003 Aug;40(8):605-9. doi: 10.1136/jmg.40.8.605. J Med Genet. 2003. PMID: 12920074 Free PMC article. No abstract available.

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