Search details
1.
Effects of Inhibiting VPS4 Support a General Role for ESCRTs in Extracellular Vesicle Biogenesis.
Biophys J
; 113(6): 1342-1352, 2017 09 19.
Article
in English
| MEDLINE | ID: mdl-28629620
2.
Mitochondrial haplogroup X is associated with successful aging in the Amish.
Hum Genet
; 131(2): 201-8, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-21750925
3.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Am J Hum Genet
; 84(4): 511-8, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19344878
4.
Germline CDH1 deletions in hereditary diffuse gastric cancer families.
Hum Mol Genet
; 18(9): 1545-55, 2009 May 01.
Article
in English
| MEDLINE | ID: mdl-19168852
5.
Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish.
Ann Hum Genet
; 75(4): 516-28, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21668908
6.
A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6.
Ann Hum Genet
; 75(3): 351-8, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21488853
7.
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
BMC Med Genet
; 7: 19, 2006 Mar 03.
Article
in English
| MEDLINE | ID: mdl-16515697
8.
Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.
Clin Cancer Res
; 11(15): 5401-9, 2005 Aug 01.
Article
in English
| MEDLINE | ID: mdl-16061854
9.
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.
Hum Mutat
; 19(5): 510-7, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11968083
10.
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
J Clin Endocrinol Metab
; 87(6): 2688-93, 2002 Jun.
Article
in English
| MEDLINE | ID: mdl-12050235
11.
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
Age (Dordr)
; 35(4): 1467-77, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-22773346
12.
Distinct roles for CARMIL isoforms in cell migration.
Mol Biol Cell
; 20(24): 5290-305, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19846667
13.
Role of nucleotide binding in septin-septin interactions and septin localization in Saccharomyces cerevisiae.
Mol Cell Biol
; 28(16): 5120-37, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18541672
14.
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Ann Hum Genet
; 70(Pt 3): 414-6, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16674563
15.
A genome-wide linkage analysis of dementia in the Amish.
Am J Med Genet B Neuropsychiatr Genet
; 141B(2): 160-6, 2006 Mar 05.
Article
in English
| MEDLINE | ID: mdl-16389594
16.
Amish brittle hair syndrome gene maps to 7p14.1.
Am J Med Genet A
; 134(3): 290-4, 2005 Apr 30.
Article
in English
| MEDLINE | ID: mdl-15723315
17.
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Am J Hum Genet
; 76(3): 510-6, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15645389
18.
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.
Am J Hum Genet
; 70(5): 1376-7, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11951180
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