Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

Comparison of Universal Versus Age-Restricted Screening of Colorectal Tumors for Lynch Syndrome Using Mismatch Repair Immunohistochemistry: A Cohort Study.

Li D, Hoodfar E, Jiang SF, Udaltsova N, Pham NP, Jodesty Y, Armstrong MA, Hung YY, Baker RJ, Postlethwaite D, Ladabaum U, Levin TR, Corley DA, Bergoffen J.

Ann Intern Med. 2019 Jun 11. doi: 10.7326/M18-3316. [Epub ahead of print]

PMID:
31181578
2.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8.

PMID:
21309039
3.

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.

J Med Genet. 2003 Aug;40(8):605-9. No abstract available.

4.

Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry.

Terdiman JP, Levin TR, Allen BA, Gum JR Jr, Fishbach A, Conrad PG, Miller GA, Weinberg V, Bachman R, Bergoffen J, Stembridge A, Toribara NW, Sleisenger MH, Kim YS.

Gastroenterology. 2002 Apr;122(4):940-7.

PMID:
11910346
5.

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR.

Nat Genet. 1997 Oct;17(2):146-8. No abstract available.

PMID:
9326931
6.

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.

J Autoimmun. 1996 Apr;9(2):175-80.

PMID:
8738961
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.

Hum Hered. 1995 May-Jun;45(3):121-8.

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.

Am J Hum Genet. 1995 Mar;56(3):676-83.

9.

Paternal transmission of congenital myotonic dystrophy.

Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH.

J Med Genet. 1994 Jul;31(7):518-20.

10.

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.

J Med Genet. 1994 Mar;31(3):193-6.

11.

Familial autoimmune myasthenia gravis.

Bergoffen J, Zmijewski CM, Fischbeck KH.

Neurology. 1994 Mar;44(3 Pt 1):551-4.

PMID:
7908425
12.

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.

Science. 1993 Dec 24;262(5142):2039-42.

PMID:
8266101
13.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH.

J Pediatr. 1993 Apr;122(4):603-6.

PMID:
8463911
14.

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

Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH.

Am J Hum Genet. 1993 Feb;52(2):312-8.

15.

Supplemental Content

Loading ...
Support Center