All individuals with variants in gene SMN1

133 entries on 2 pages. Showing entries 1 - 100.
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00000037 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00116707 - PubMed: Parsons 1998 - - - United States - - - - - SMA2 - 3 1 Johan den Dunnen
00116708 - PubMed: Parsons 1998 2 unrelated patients - - United States - - - - - SMA3 - 3 2 Johan den Dunnen
00116709 - - - F no (China) chinese - - - - SMA3 - 1 1 Fang Song
00116710 - - 165 unrelated families Portugal M - Portugal - - - - - SMA - 2 165 Rosário dos Santos
00116711 - PubMed: Ogino 2004 - - - - - - - - - SMA SMA 1, 2, 3 2 1 Johan den Dunnen
00116712 - PubMed: Gambardella 1998 del NAIP exon 5 M - Italy - - - - - SMA3 - 2 1 Johan den Dunnen
00116713 - PubMed: Parsons 1998 - - - United States - - - - - SMA1 - 2 1 Johan den Dunnen
00116714 - PubMed: Hahnen 1997 - - - Germany - - - - - SMA2 - 2 1 Johan den Dunnen
00116715 - PubMed: Hahnen 1997 - - - Germany - - - - - SMA3 - 2 2 Johan den Dunnen
00116716 - PubMed: Hahnen 1997 - - - Australia - - - - - SMA3 - 2 1 Johan den Dunnen
00116717 - PubMed: Lefebvre 1995 - - - France - - - - - SMA1 - 2 1 Johan den Dunnen
00116718 - PubMed: Lorson 1999 - - - United States - - - - - SMA3 - 2 1 Johan den Dunnen
00116719 - PubMed: Sossi 2001 - F - Italy - - - - - SMA1 - 2 1 Johan den Dunnen
00116720 - PubMed: Sossi 2001 - M - Italy - - - - - SMA2 WB smaller SMN1 2 1 Johan den Dunnen
00116721 - PubMed: Sossi 2001 - F - Italy - - - - - SMA3 WB smaller SMN1 2 1 Johan den Dunnen
00116722 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - - Spain - - - - - SMA1 - 2 1 Johan den Dunnen
00116723 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 3 patients (1 early onset) - - Spain - - - - - SMA2 - 2 3 Johan den Dunnen
00116724 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 8 patients (2 early onset) - - Spain - - - - - SMA3 - 2 8 Johan den Dunnen
00116725 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 2 patients F - Spain - - - - - SMA4 - 2 2 Johan den Dunnen
00116726 - PubMed: Sun 2005 - - - Germany - - - - - SMA2 - 2 1 Johan den Dunnen
00116727 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - 2 1 Johan den Dunnen
00116728 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - 2 1 Johan den Dunnen
00116729 - PubMed: Sun 2005 - - - Germany - - - - - SMA SMA 1/2 2 1 Johan den Dunnen
00116730 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - 2 1 Johan den Dunnen
00116731 - PubMed: Cusco 2004 - - - Spain - - - - - SMA1 - 2 1 Johan den Dunnen
00116732 - PubMed: Cusco 2004 - - - Spain - - - - - SMA1 - 2 1 Johan den Dunnen
00116733 - - - M - Portugal - - - - - SMA - 2 1 Rosário dos Santos
00116734 - - - M - Portugal - - - - - SMA - 2 1 Rosário dos Santos
00116735 - - 11 unrelated patients - - Portugal - - - - - SMA - 2 11 Rosário dos Santos
00116736 - PubMed: Ogino 2004 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00116737 - PubMed: Ogino 2004 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00116738 - PubMed: Wirth 1999 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116739 - PubMed: Wirth 1999 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116740 - PubMed: Tsai 2001 - - - - - - - - - SMA SMA 1 or 2 2 1 Johan den Dunnen
00116741 - PubMed: Martin 2002 3 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 2 3 Johan den Dunnen
00116742 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116743 - PubMed: Brahe 1996 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116744 - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA SMA 1, 3 2 2 Johan den Dunnen
00116745 - PubMed: Parsons 1998, PubMed: Parsons 1998 3 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 2 3 Johan den Dunnen
00116746 - PubMed: Wirth 1999 - - - - - - - - - SMA2 - 2 1 Johan den Dunnen
00116747 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116748 - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA1 - 2 2 Johan den Dunnen
00116749 - PubMed: Tsai 2001 - - - - - - - - - SMA SMA 1 or 2 2 1 Johan den Dunnen
00116750 - PubMed: Rochette 1997 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116751 - PubMed: Martin 2002 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116752 - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000 7 unrelated cases - - - - - - - - SMA SMA 1, 2 2 7 Johan den Dunnen
00116753 - PubMed: McAndrew 1997 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116754 - PubMed: Skordis 2001 2 unrelated cases - - - - - - - - SMA2 - 2 2 Johan den Dunnen
00116755 - PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 8 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 2 8 Johan den Dunnen
00116756 - PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA SMA 2, 3 2 2 Johan den Dunnen
00116757 - PubMed: Skordis 2001 - - - - - - - - - SMA3 - 2 1 Johan den Dunnen
00116758 - PubMed: Martin 2002 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116759 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116760 - PubMed: Wang 1998 2 unrelated cases - - - - - - - - SMA SMA 2, 3 2 2 Johan den Dunnen
00116761 - PubMed: Talbot 1997 - - - United Kingdom (Great Britain) - - - - - SMA1 - 2 1 Johan den Dunnen
00116762 - PubMed: Wirth 1999 - - - - - - - - - SMA1 - 2 1 Johan den Dunnen
00116763 - PubMed: Bai 2014 - M - China - - - - - SMA3 - 2 1 Johan den Dunnen
00116764 - PubMed: Bai 2014 - M - China - - - - - SMA1 EMG nerve damage 2 1 Johan den Dunnen
00116765 - PubMed: Bai 2014 - F - China - - - - - SMA2 EMG nerve damage 2 1 Johan den Dunnen
00116766 - PubMed: Bai 2014 - F - China - - - - - SMA1 EMG nerve damage 2 1 Johan den Dunnen
00116767 - PubMed: Bai 2014 - F - China - - - - - SMA2 EMG nerve damage 2 1 Johan den Dunnen
00116768 - PubMed: Bai 2014 - F - China - - - - - SMA1 EMG nerve damage 2 1 Johan den Dunnen
00116769 - PubMed: Bai 2014 - M - China - - - - - SMA2 EMG nerve damage 2 1 Johan den Dunnen
00116770 - PubMed: Bai 2014 - M - China - - - - - SMA2 EMG nerve damage 2 1 Johan den Dunnen
00116771 - PubMed: Bai 2014 - M - China - - - - - SMA1 EMG nerve damage 2 1 Johan den Dunnen
00116772 - PubMed: Yamamoto 2013 - M no Japan Japanese - - - - SMA3 11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated patellar tendon reflex; able to walk 2 1 Hisahide Nishio
00116773 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - F - Japan - - - - - SMA1 - 2 1 Hisahide Nishio
00116774 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - M - Japan - - - - - SMA1 - 2 1 Hisahide Nishio
00116775 - PubMed: Yamamoto 2013 - M - Japan - >19y - - - SMA1 referred for respiratory insufficiency and difficulties swallowing 2 1 Hisahide Nishio
00116776 - PubMed: Yamamoto 2013 - F - Japan - >7y - - - SMA2 first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency) 2 1 Hisahide Nishio
00116777 - PubMed: Yamamoto 2013 - F - Japan - >19y - - - SMA3 13y-muscle weakness during swimming exercise; gradually lost running ability, could no longer run as fast as classmates in high school days 2 1 Hisahide Nishio
00116778 - - - M - China chinese - - - - SMA3 - 1 1 Fang Song
00116779 - - - F - China Chinese - - - - SMA3 - 1 1 Fang Song
00116780 - - - M - China chinese - - - - SMA2 - 1 1 Fang Song
00116781 - - The proband has a heterozygous deletion of SMN1 inherited from his father. His single copy of SMN1 contains an inserted Alu element of the Yb8 family, inherited from his mother. M no United Arab Emirates - - - - - SMA1 microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss 1 2 Kathleen Vinette
00116782 - - - F - China chinese <4m - - - SMA1 - 1 1 Fang Song
00116783 - - - F - Portugal - - - - - SMA1 - 2 1 Rosário dos Santos
00116784 - - - M no China chinese - - - - SMA1 - 1 1 Fang Song
00116785 - PubMed: Ogino 2002 5 unrelated affecteds - - - - - - - - Healthy/Control - 1 5 Johan den Dunnen
00116786 - - - M - China chinese - - - - SMA1 - 1 1 Fang Song
00116787 - - - M - France - - - - - SMA4 type IV 1 1 Pascale Saugier-Veber
00116788 - - - - - - - - - - - Healthy/Control - 2 1 Johan den Dunnen
00116789 - - - F - (China) - - - - - SMA2 - 1 1 Fang Song
00116790 - - - F no (China) - - - - - SMA1 - 1 1 Fang Song
00116791 - - - M no (China) - 20d - - - SMA1 - 1 1 Fang Song
00116792 - PubMed: Wirth 2000 - - - - - - - - - SMA2 - 1 1 Johan den Dunnen
00116793 - PubMed: Lefebvre 1995 - - - - - - - - - SMA2 - 1 1 Johan den Dunnen
00116794 - PubMed: Gambardella 1998 del NAIP exon 5 M - Italy - - - - - SMA2 - 2 1 Johan den Dunnen
00116795 - - difference between mRNA and genomic sequence in GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00116796 24498607 PubMed: Kirwin 2013 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier relatives F;M yes Saudi Arabia - - - - - SMA see paper; ... 2 3 Johan den Dunnen
00150115 - - - M no Spain white - - - - SMA2 - 1 1 Laura Alías
00150116 - - - M - - - - - - - SMA1 - 1 1 Laura Alías
00150120 - - - - - - - - - - - Healthy/Control - 2 1 Laura Alías
00168061 - - - F no Greece white 00y13m - - - cancer, lung, SMA1 - 1 1 Kyriaki Kekou
00168071 - - - F - Greece - - - - - SMA2 5.5y-respiratory support and gastrostomy 1 1 Kyriaki Kekou
00168072 - - - M no Greece - - - - - SMA2 - 1 2 Kyriaki Kekou
00168073 - - - F no Greece - - - - - SMA3 - 1 2 Kyriaki Kekou
00168074 - - - M no Greece - - - - - SMA3 8y deterioration in specific muscle groups 1 1 Kyriaki Kekou
00234342 - - - - - - - - - - - SMA2 - 2 1 Gemeinschaftspraxis für Humangenetik Dresden
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