All individuals with variants in gene SMAD4

510 entries on 6 pages. Showing entries 1 - 100.
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00003295 - - - - - - - - 0 - - - - 1 1 Christopher Watson
00037150 - - - - - Germany - - 0 - - ? suspected Morbus Osler 1 1 Andreas Laner
00037151 - - - - - Germany - - 0 - - JPS Juvenile Polyposis 1 1 Andreas Laner
00037152 - - - - - Germany - - 0 - - ? suspected Morbus Osler 1 1 Andreas Laner
00037153 - - - - - Germany - - 0 - - JPS suspected juvenile polyposis 1 1 Andreas Laner
00049794 - PubMed: Howe 1998, Journal: Howe 1998 5-generation family, 13 affected, 4 unaffected at-risk carriers - no United States white, Iowa - 0 - - JPS hamartomatous polyps, gastrointestinal cancer 1 13 Johan den Dunnen
00049801 - PubMed: Howe 1998, Journal: Howe 1998 family - no United States white, Mississipi - 0 - - JPS - 1 13 Johan den Dunnen
00049802 - PubMed: Howe 1998, Journal: Howe 1998 family - no Finland white - 0 - - JPS - 1 13 Johan den Dunnen
00049803 - PubMed: Howe 1998, Journal: Howe 1998 sporadic patient - - United States - - 0 - - JPS colonic/gastric JP; father gastrointestinal symptoms 1 13 Johan den Dunnen
00049804 - PubMed: Howe 1998, Journal: Howe 1998 2-generation family, 1 affected, unaffected parents/4 sibs - - United States - - 0 - - JPS 6y 30-40 colonic juvenile polyps 1 13 Johan den Dunnen
00049805 - PubMed: Shikata 2005, Journal: Shikata 2005 - F ? Japan - - 0 - - JPS - 1 1 Johan den Dunnen
00049924 - PubMed: Houlston 1998, Journal: Houlston 1998 - - - United Kingdom (Great Britain) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049925 103984370-FJP-15/12136244-JUV-15 PubMed: Friedl 1999, PubMed: Friedl 2002 - F - Germany - - 0 - - JPS 12y-50 juvenile polyps; 28y-polyposis of the stomach 1 1 Global Variome, with Curator vacancy
00049926 - PubMed: Roth 1999 - - - (Finland) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049927 - PubMed: Roth 1999 - - - Finland - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049928 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - F - - - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049929 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - M - - - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049930 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - M - - - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049931 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - M - Korea - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049932 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - F - Korea - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049933 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - F - Korea - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049934 - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - - - - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049935 - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - - - - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049937 12136244-JUV-29 PubMed: Friedl 2002 adopted - - Germany - - 0 - - JPS no extracolonic features, gastric polyposis not examined 1 1 Global Variome, with Curator vacancy
00049938 12136244-JUV-36 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS gastric polyposis,giant gastric folds; 40y-gastrectomy 1 1 Global Variome, with Curator vacancy
00049939 12136244-JUV-37 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 36y-gastric polyposis; 40y-gastrectomy; mother, sister, maternal aunt gastric polyposis and partial or total gastrectomy at 47y, 47y, 42y resp. 1 1 Global Variome, with Curator vacancy
00049940 JP2 PubMed: Sayed 2002, Journal: Sayed 2002 - - - United States - - 0 - - JPS - 1 1 Johan den Dunnen
00049941 JP3 PubMed: Sayed 2002 - - - United States - - 0 - - JPS - 1 1 Johan den Dunnen
00049942 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00049943 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00049944 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049945 15031030-Fam230 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... 1 1 Global Variome, with Curator vacancy
00049946 15031030-Fam211 PubMed: Gallione 2004 3-generation family, 4 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... 1 4 Global Variome, with Curator vacancy
00049947 15031030-Ind2616 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... 1 1 Global Variome, with Curator vacancy
00049948 15031030-Fam236 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... 1 1 Global Variome, with Curator vacancy
00049949 15031030-Fam25 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... 1 2 Global Variome, with Curator vacancy
00049950 - Journal: Howe 2004, Journal: Howe 2004 - - - (United States) - - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00049951 - Journal: Howe 2004, Journal: Howe 2004 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049952 - PubMed: Lamireau 2005, Journal: Lamireau 2005 - F - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049953 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049954 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049955 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049956 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049957 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049958 - PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049959 - PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049960 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049961 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049962 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049963 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049964 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JP-HHT 1 1 Global Variome, with Curator vacancy
00049965 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049966 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JP-HHT 1 1 Global Variome, with Curator vacancy
00049967 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049968 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049969 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049970 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049971 16613914-UP015 PubMed: Gallione 2006 - - - United States - - 0 - - JPHT see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ... 1 1 Global Variome, with Curator vacancy
00049972 17873119-Pat51 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00049973 17873119-Pat44 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00049974 17873119-Pat71 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00049975 17873119-Pat78 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00049976 17873119-Pat57 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper 1 1 Global Variome, with Curator vacancy
00049977 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049978 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049979 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049980 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049981 - PubMed: Pintiliciuc 2008, Journal: Pintiliciuc 2008 - F - (France) - - 0 - - JPS GJP 1 1 Global Variome, with Curator vacancy
00049982 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049983 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) - - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00049984 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049985 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS 1 1 Global Variome, with Curator vacancy
00049986 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049987 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049988 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS 1 1 Global Variome, with Curator vacancy
00049989 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049990 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049991 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT 1 1 Global Variome, with Curator vacancy
00049992 20685751-Pat PubMed: Iyer 2010 - M - United States - - 0 - - JPHT see paper; ... 1 1 Global Variome, with Curator vacancy
00049993 - PubMed: Tram 2011, Journal: Tram 2011 - - - (Canada) - - 0 - - ? breast cancer 1 1 Global Variome, with Curator vacancy
00049994 - PubMed: Nasim 2011, Journal: Nasim 2011 - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 Johan den Dunnen
00049995 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP 1 1 SIB - Livia Famiglietti
00049996 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP 1 1 SIB - Livia Famiglietti
00049997 15031030-Fam153 PubMed: Gallione 2004 3-generation family, 3 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... 1 3 SIB - Livia Famiglietti
00049998 - PubMed: Houlston 1998, Journal: Houlston 1998 - - - - - - 0 - - JPS JPHT 1 1 SIB - Livia Famiglietti
00049999 15031030-Fam234 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... 1 2 SIB - Livia Famiglietti
00050000 - PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) - - 0 - - MYHRS MYHRS 1 1 SIB - Livia Famiglietti
00050001 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - 1 1 SIB - Livia Famiglietti
00050002 - PubMed: Caputo 2012, Journal: Caputo 2012 - F - (Italy) - - 0 - - MYHRS MYHRS 1 1 SIB - Livia Famiglietti
00050003 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - 1 1 SIB - Livia Famiglietti
00050004 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - 1 1 SIB - Livia Famiglietti
00050395 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? cognitive impairment, short stature 1 1 Johan den Dunnen
00050538 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure 1 1 Johan den Dunnen
00090779 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090780 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090781 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090782 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090783 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090784 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090785 - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - Healthy/Control - 1 2 Melissa DeRycke
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