All individuals with variants in gene EXT2

387 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Variants     

Panel size     

Owner     
00100647 @DRN - - M no (Italy) white - 0 yes surgery of cranial posterior fossa CM-1 1 2 Patrizia De Marco
00118681 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118682 - {PMID12239711:Hall, 2002} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118683 - Jennes, not yet published - - - Germany - - 0 - - MO 1 1 Ivy Jennes
00118684 - Jennes, not yet published - - - - - - 0 - - MO 1 1 Ivy Jennes
00118685 - Bakker, not yet published - - - - - - 0 - - MO 1 1 Bert Bakker
00118686 - Jennes, not yet published - - - United States - - 0 - - MO 1 1 Ivy Jennes
00118687 - {PMID18373409: Leube, 2008} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118688 - {PMID18165274:Jennes, 2008} - - - United States - - 0 - - MO 1 1 Ivy Jennes
00118689 - Jennes, not yet published - - - Spain - - 0 - - MO 1 1 Ivy Jennes
00118690 - Jennes, not yet published - - - Macedonia - - 0 - - MO 1 1 Ivy Jennes
00118691 - Jennes, not yet published - - - Spain - - 0 - - MO 1 1 Ivy Jennes
00118692 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118693 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118694 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118695 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118696 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118697 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118698 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118699 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118700 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118701 - {PMID15221792:White, 2004} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118702 - Jennes, not yet published - - - Belgium - - 0 - - MO 1 1 Ivy Jennes
00118703 - Jennes, not yet published - M - - - - 0 - - MO 1 1 Ivy Jennes
00118704 - Jennes, not yet published - - - Bulgaria - - 0 - - MO 1 1 Ivy Jennes
00118705 - {PMID17301954:Signori, 2007} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118706 - {PMID9326317:Philippe, 1997} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118707 - {PMID18373409: Leube, 2008} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118708 - {PMID9463333:Wuyts, 1998} 4 patients, Same family as in Mollica, 1984: Some patients also have brachydactyly & anetoderma. - - Italy Caucasian - 0 - - MO 1 1 Ivy Jennes
00118709 - {PMID11668521:Gigante, 2001} 2 generations, 1 patient - - Italy Caucasian - 0 - - MO 1 1 Ivy Jennes
00118710 - {PMID16088908:Pedrini, 2005} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118711 - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) Caucasian - 0 - - MO 1 1 Ivy Jennes
00118712 - {PMID17301954:Signori, 2007} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118713 - {PMID17301954:Signori, 2007} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118714 - {PMID17301954:Signori, 2007} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118715 - Jennes, not yet published - - - United Kingdom (Great Britain) - - 0 - - MO 1 1 Ivy Jennes
00118716 - Jennes, not yet published - - - United States - - 0 - - MO 1 1 Ivy Jennes
00118717 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118718 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118719 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118720 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118721 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118722 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118723 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118724 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118725 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118726 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118727 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118728 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118729 - Pedrini, not yet published - F - Italy - - 0 - - MO 1 1 Elena Pedrini
00118730 - {PMID9326317:Philippe, 1997} 3 generations, 4 patients - - United Kingdom (Great Britain) Caucasian - 0 - - MO 1 1 Ivy Jennes
00118731 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118732 - {PMID14654969:Vujic, 2004} 7 generations, 170 relatives, 38 patients2 with chondrosarcoma, 8 isolated exostosis, but without the c.112_113del - - - - - 0 - - MO 1 1 Ivy Jennes
00118733 - Pedrini, not yet published - - - Tunisia - - 0 - - MO 1 1 Elena Pedrini
00118734 - {PMID10713884:Dobson-Stone, 2000} - - - - Caucasian - 0 - - MO 1 1 Ivy Jennes
00118735 - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) Caucasian - 0 - - MO 1 1 Ivy Jennes
00118736 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118737 - Pedrini, not yet published - M - Italy - - 0 - - MO 1 1 Elena Pedrini
00118738 - {PMID18165274:Jennes, 2008} - - - Switzerland Caucasian - 0 - - MO 1 1 Ivy Jennes
00118739 - Jennes, not yet published - - - United Kingdom (Great Britain) - - 0 - - MO 1 1 Ivy Jennes
00118740 - {PMID15586175:Vink, 2004} - - - - Caucasian - 0 - - MO 1 1 Ivy Jennes
00118741 - Jennes, not yet published - - - Netherlands - - 0 - - MO 1 1 Ivy Jennes
00118742 - {PMID11170095:Seki, 2001} 3 patient - - Japan Asian - 0 - - MO 1 1 Ivy Jennes
00118743 - Jennes, not yet published - - - Greece Caucasian - 0 - - MO 1 1 Ivy Jennes
00118744 - {PMID10679937:Wuyts, 2000} Data from Raskind, unpublished - - - - - 0 - - MO 1 1 Ivy Jennes
00118745 - {PMID18666861:Liu, 2008} 5 patients in family, 3 generations - - China Asian - 0 - - MO 1 1 Ivy Jennes
00118746 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118747 - {PMID16088908:Pedrini, 2005} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118748 - {PMID10429361:Park, 1999} - - - Korea - - 0 - - MO 1 1 Ivy Jennes
00118749 - {PMID18165274:Jennes, 2008} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118750 - {PMID10679937:Wuyts, 2000} Data from Raskind, unpublished - - - - - 0 - - MO 1 1 Ivy Jennes
00118751 - {PMID10480354:Xu, 1999} 5 patients - - China Asian - 0 - - MO 1 1 Ivy Jennes
00118752 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118753 - {PMID10480354:Xu, 1999} 5 patients - - China Asian - 0 - - MO 1 1 Ivy Jennes
00118754 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118755 - {PMID10480354:Xu, 1999} 1 patient - - China Asian - 0 - - MO 1 1 Ivy Jennes
00118756 - {PMID17041877:Lonie, 2006} - - - United Kingdom (Great Britain) Caucasian - 0 - - MO 1 1 Ivy Jennes
00118757 - Jennes, not yet published - - - Belgium - - 0 - - MO 1 1 Ivy Jennes
00118758 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118759 - Jennes, not yet published - - - Bulgaria - - 0 - - MO 1 1 Ivy Jennes
00118760 - {PMID11170095:Seki, 2001} 1 patient - - Japan Asian - 0 - - MO 1 1 Ivy Jennes
00118761 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118762 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118763 - {PMID19839753:Li, 2009} - - - China China - 0 - - MO 1 1 Ivy Jennes
00118764 - Bakker, not yet published - - - - - - 0 - - MO 1 1 Bert Bakker
00118766 - Bakker, not yet published - - - - - - 0 - - MO 1 1 Bert Bakker
00118767 - {PMID17041877:Lonie, 2006} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118768 - {PMID18165274:Jennes, 2008} - - - - - - 0 - - MO 1 1 Ivy Jennes
00118769 - {PMID8782816:Stickens, 1996} 3 generations, 8 patientsHecht, 1995 - - - - - 0 - - MO 1 1 Ivy Jennes
00118770 - {PMID10713884:Dobson-Stone, 2000} - - - - Caucasian - 0 - - MO 1 1 Ivy Jennes
00118771 - {PMID10713884:Dobson-Stone, 2000} - - - - Caucasian - 0 - - MO 1 1 Ivy Jennes
00118772 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118773 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118774 - Pedrini, not yet published - - - Italy - - 0 - - MO 1 1 Elena Pedrini
00118776 - {PMID10480354:Xu, 1999} 4 patients - - China Asian - 0 - - MO 1 1 Ivy Jennes
00118777 - {PMID21039224:Pei, 2010} - - - China - - 0 - - MO 1 1 Ivy Jennes
00118778 - Jennes, not yet published - - - Belgium - - 0 - - MO 1 1 Ivy Jennes
00118779 - {PMID16088908:Pedrini, 2005} - - - Italy - - 0 - - MO 1 1 Ivy Jennes
00118780 - {PMID16879194:Alvarez, 2006} - - - United Kingdom (Great Britain) - - 0 - - MO 1 1 Ivy Jennes
00118781 - Jennes, not yet published - - - - - - 0 - - MO 1 1 Ivy Jennes
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