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Items: 15

1.
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Daw-Yang Hwang, Gabriel C. Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C. Hilger, Heiko M. Reutter, Neveen A. Soliman, Radovan Bogdanovic, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt
Kidney Int. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Kidney Int. 2014 Jun; 85(6): 1429–1433. Published online 2014 Jan 15. doi: 10.1038/ki.2013.508
PMCID:
PMC4040148
AbstractArticlePDF–305K
2.
Renal Aplasia in Humans Is Associated with RET Mutations
Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson, Alex J. Freemerman
Am J Hum Genet. 2008 Feb 8; 82(2): 344–351. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.008
PMCID:
PMC2427293
AbstractArticlePDF–406K
3.
The clinical and screening age-at-onset distribution for the MEN-2 syndrome.
D F Easton, M A Ponder, T Cummings, R F Gagel, H H Hansen, S Reichlin, A H Tashjian, Jr, M Telenius-Berg, B A Ponder
Am J Hum Genet. 1989 Feb; 44(2): 208–215.
PMCID:
PMC1715408
SummaryPage BrowsePDF–1.0M
4.
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.
I Schuffenecker, N Ginet, D Goldgar, C Eng, B Chambe, A Boneu, C Houdent, D Pallo, M Schlumberger, C Thivolet, G M Lenoir
Am J Hum Genet. 1997 Jan; 60(1): 233–237.
PMCID:
PMC1712555
SummaryPage BrowsePDF–1014K
5.
The two-mutational-event theory in medullary thyroid cancer.
C E Jackson, M A Block, K A Greenawald, A H Tashjian, Jr
Am J Hum Genet. 1979 Nov; 31(6): 704–710.
PMCID:
PMC1686035
SummaryPage BrowsePDF–1.1M
6.
Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.
P J Goodfellow, B N White, J J Holden, A M Duncan, E V Sears, H S Wang, L Berlin, K K Kidd, N E Simpson
Am J Hum Genet. 1985 Sep; 37(5): 890–897.
PMCID:
PMC1684696
SummaryPage BrowsePDF–783K
7.
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.
L A Farrer, P J Goodfellow, C M Lamarche, I Franjkovic, S Myers, B N White, J J Holden, J R Kidd, N E Simpson, K K Kidd
Am J Hum Genet. 1987 Apr; 40(4): 329–337.
PMCID:
PMC1684085
SummaryPage BrowsePDF–995K
8.
The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.
N L Carson, J S Wu, C E Jackson, K K Kidd, N E Simpson
Am J Hum Genet. 1990 Dec; 47(6): 946–951.
PMCID:
PMC1683917
SummaryPage BrowsePDF–919K
9.
Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A.
S A Narod, M F Lavoué, K Morgan, C Calmettes, H Sobol, P J Goodfellow, G M Lenoir
Am J Hum Genet. 1992 Sep; 51(3): 469–477.
PMCID:
PMC1682704
SummaryPage BrowsePDF–1.2M
10.
The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred.
R M Landsvater, A G Rombouts, G J te Meerman, J M Schillhorn-van Veen, M J Berends, R A Geerdink, A Struyvenberg, C H Buys, C J Lips
Am J Hum Genet. 1993 Feb; 52(2): 335–342.
PMCID:
PMC1682203
SummaryPage BrowsePDF–1.1M
11.
Familial medullary carcinoma of the thyroid.
M A Block, R C Horn, Jr, J M Miller, J L Barrett, B E Brush
Ann Surg. 1967 Sep; 166(3): 403–412. doi: 10.1097/00000658-196709000-00008
PMCID:
PMC1477419
SummaryPage BrowsePDF–1.7M
12.
Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.
A Zatterale, M Stabile, V Nunziata, G Di Giovanni, R Vecchione, V Ventruto
J Med Genet. 1984 Apr; 21(2): 108–111. doi: 10.1136/jmg.21.2.108
PMCID:
PMC1049236
SummaryPage BrowsePDF–598K
13.
Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study.
V R Babu, D L Van Dyke, C E Jackson
Proc Natl Acad Sci U S A. 1984 Apr; 81(8): 2525–2528. doi: 10.1073/pnas.81.8.2525
PMCID:
PMC345095
SummaryPage BrowsePDF–1.2M
14.
Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus.
M Janson, C Larsson, B Werelius, C Jones, T Glaser, Y Nakamura, C P Jones, M Nordenskjöld
Proc Natl Acad Sci U S A. 1991 Dec 1; 88(23): 10609–10613. doi: 10.1073/pnas.88.23.10609
PMCID:
PMC52979
SummaryPage BrowsePDF–1.2M
15.
The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes.
S Saccone, A De Sario, G Della Valle, G Bernardi
Proc Natl Acad Sci U S A. 1992 Jun 1; 89(11): 4913–4917. doi: 10.1073/pnas.89.11.4913
PMCID:
PMC49198
SummaryPage BrowsePDF–1.2M

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