All individuals with variants in gene DSPP

89 entries on 1 page. Showing entries 1 - 89.
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00019552 - - - - ? (France) - - - - - DGI1 mild DI 1 1 Muriel de La Dure-Molla
00019553 - - - - ? Korea, South (Republic) - - - - - DFNA39 - 1 1 Byung Yoon Choi
00019554 - PubMed: Malmgren 2014 - ? ? - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019555 - PubMed: Xiao 2001 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019556 - PubMed: Zhang 2007 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019557 - PubMed: Lee 2013 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019558 - PubMed: Lee 2008 - - - - - - - - - Healthy/Control dentinogenesis imperfecta mild/moderate (dentin dysplasia type II MIM 125420 1 1 Muriel de La Dure-Molla
00019559 - PubMed: Wang 2009 6-generation family, 25 affecteds (13F, 12M) - - China - - - - - DGI1 dentinogenesis imperfecta moderate 1 25 Muriel de La Dure-Molla
00019560 - PubMed: Kim 2004 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019561 - PubMed: Holapa 2006 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019562 - PubMed: Xiao 2001 - - - - - - - - - DGI1 dentinogenesis impefecta moderate 1 1 Muriel de La Dure-Molla
00019563 - PubMed: Lee 2009 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate/severe 1 1 Muriel de La Dure-Molla
00019564 - PubMed: Zhang 2001 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019565 - PubMed: Xiao 2001 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019566 - PubMed: McKnight 2008 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019567 - PubMed: Zhang 2001 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019568 - PubMed: Bai 2010 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019569 - PubMed: Malmgren 2004 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019570 Fam1PatI1 PubMed: Nieminen 2011 family - - Finland - - - - - DTDP2 primary teeth severe amber color, no increased constriction at CEJ, no attrition, moderate obliterated pulps, moderate obliterated root canals, severe thistle-tube or funnel shape of pulp chamber, no shorter root length, no thinner roots, no periapical radiolucencies, no shell teeth; permanent teeth no amber color, no increased constriction at CEJ, no attrition, no obliterated pulps in unerupted teeth, 1 1 Muriel de La Dure-Molla
00019571 Fam2PatII1 PubMed: Nieminen 2011 family, 2 affected - - France - - - - - DTDP2 primary teeth severe amber color, moderate increased constriction at CEJ, moderate attrition, moderate obliterated pulps, moderate obliterated root canals, mild thistle-tube or funnel shape of pulp chamber, mild shorter root length, moderate thinner roots, no periapical radiolucencies, no shell teeth; permanent teeth mild amber color, mild increased constriction at CEJ, no attrition, mild obliterated pulps in erupted teeth, no obliterated pulps in unerupted teeth, moderate obliterated root canals in erupted teeth, no obliterated root canals in unerupted teeth, moderate thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, no periapical radiolucencies 1 2 Muriel de La Dure-Molla
00019572 - PubMed: McKnight 2008 - - - - - - - - - DTDP2 dentinogenesis imperfecta mild 1 1 Muriel de La Dure-Molla
00019573 - PubMed: McKnight 2008 - - - - - - - - - DTDP2 dentinogenesis imperfecta mild 1 1 Muriel de La Dure-Molla
00019574 Fam6PatI2 PubMed: Nieminen 2011 family, 2 affected - - Finland - - - - - DTDP2 permanent teeth no amber color, no increased constriction at CEJ, mild attrition, moderate obliterated pulps in erupted teeth, moderate obliterated root canals in erupted teeth, severe thistle-tube or funnel shape of pulp chamber, no shorter root length, moderate thinner roots, no periapical radiolucencies 1 2 Muriel de La Dure-Molla
00019575 - PubMed: Song 2008 - - - - - - - - - DTDP2 dentinogenesis imperfecta mild/moderate 1 1 Muriel de La Dure-Molla
00019576 Fam7PatII1 PubMed: Nieminen 2011 family - - Finland - - - - - DTDP2 primary teeth severe amber color, moderate increased constriction at CEJ, moderate attrition, severe obliterated pulps, severe obliterated root canals, no thistle-tube or funnel shape of pulp chamber, mild thinner roots, no periapical radiolucencies, no shell teeth; permanent teeth mild amber color, mild increased constriction at CEJ, moderate obliterated pulps in erupted teeth, moderate obliterated pulps in unerupted teeth, moderate obliterated root canals in erupted teeth, severe thistle-tube or funnel shape of pulp chamber, mild shorter root length, mild thinner roots, no periapical radiolucencies 1 1 Muriel de La Dure-Molla
00019577 - PubMed: McKnight 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta mild/moderate 1 1 Muriel de La Dure-Molla
00019578 Fam9PatIII2 PubMed: Nieminen 2011 family, 2 affected - - Spain - - - - - DGI1 primary teeth moderate amber color, ; permanent teeth moderate amber color, severe increased constriction at CEJ, mild attrition, moderate obliterated pulps in erupted teeth, moderate obliterated root canals in erupted teeth, no thistle-tube or funnel shape of pulp chamber, mild shorter root length, moderate thinner roots, severe periapical radiolucencies 1 2 Muriel de La Dure-Molla
00019579 - PubMed: McKnight 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019580 - PubMed: Song 2008 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019581 Fam10PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - DGI1 primary teeth severe amber color, mild increased constriction at CEJ, no attrition, severe obliterated pulps, no periapical radiolucencies, ; permanent teeth severe amber color, mild increased constriction at CEJ, no attrition, severe obliterated pulps in erupted teeth, severe obliterated pulps in unerupted teeth, severe obliterated root canals in erupted teeth, severe obliterated root canals in unerupted teeth, no thistle-tube or funnel shape of pulp chamber, mild shorter root length, mild thinner roots, no periapical radiolucencies 1 1 Muriel de La Dure-Molla
00019582 - PubMed: Song 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019583 - PubMed: Lee 2011 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019584 - PubMed: McKnight 2008 - - - - - - - - - DTDP2 dentinogenesis imperfecta mild/moderate 1 1 Muriel de La Dure-Molla
00019585 - PubMed: Song 2008 - - - - - - - - - DGI1 - 1 1 Muriel de La Dure-Molla
00019586 - PubMed: Song 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019587 - PubMed: Lee 2011 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate 1 1 Muriel de La Dure-Molla
00019588 Fam11PatII4 PubMed: Nieminen 2011 5-generation family, 16 affected (9F, 7M) F - Finland - - - - - DGI1 permanent teeth moderate amber color, severe periapical radiolucencies 1 16 Muriel de La Dure-Molla
00019589 - PubMed: Dong 2005 5-generation family, 13 affecteds (7F, 6M) - no United States - - - - - DGI3 dentinogenesis imperfecta severe 2 13 Muriel de La Dure-Molla
00019590 Fam12PatI1 PubMed: Nieminen 2011 family - - Viet Nam - - - - - DGI1 permanent teeth severe amber color, severe increased constriction at CEJ, no attrition, severe obliterated pulps in erupted teeth, moderate obliterated root canals in erupted teeth, no obliterated root canals in unerupted teeth, mild thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, severe periapical radiolucencies 1 1 Muriel de La Dure-Molla
00282425 - PubMed: Witkop CJ Jr 1988, PubMed: Rajpar 2002, PubMed: Li 2012 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282426 - PubMed: Witkop CJ Jr 1988, PubMed: von Marschall 2012, PubMed: Malmgren 2004, PubMed: Li 2012 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282427 - PubMed: Zhang 2007, PubMed: Li 2012, PubMed: Lee 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282428 - PubMed: Xiao 2001, PubMed: von Marschall 2012, PubMed: Li 2012, PubMed: Lee 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282429 - PubMed: Wang 2011, PubMed: Lee 2013, PubMed: Li 2012 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282430 - PubMed: Lee 2008, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282431 - PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282432 - PubMed: Kim 2004, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282433 - PubMed: Witkop CJ Jr 1988, PubMed: Xiao 2001, PubMed: Kim 2005, PubMed: von Marschall 2012, PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282434 - PubMed: Lee 2009, PubMed: Li 2012 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282435 - PubMed: Witkop CJ Jr 1988, PubMed: Zhang 2001, PubMed: Li 2012, PubMed: Hart 2009, PubMed: Lee 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282436 - PubMed: Xiao 2001, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282437 - PubMed: McKnight 2008, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282438 - PubMed: Zhang 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282439 - PubMed: Bai 2010, PubMed: Li 2012, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282442 - PubMed: McKnight 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282443 - PubMed: McKnight 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282445 - PubMed: Song 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282447 - PubMed: McKnight 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282448 Fam9PatIV1 PubMed: Nieminen 2011 relative - - Spain - - - - - ? primary teeth moderate amber color, moderate increased constriction at CEJ, severe attrition 1 1 Global Variome, with Curator vacancy
00282449 - PubMed: McKnight 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282450 - PubMed: Song 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282452 - PubMed: Song 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282453 - PubMed: Lee 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282454 - PubMed: McKnight 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282455 - PubMed: Ji 2014 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00282456 - PubMed: Song 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282457 - PubMed: Ji 2014 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00282458 - PubMed: Song 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282459 - PubMed: Lee 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00282460 Fam11PatIII1 PubMed: Nieminen 2011 relative F - Finland - - - - - ? primary teeth moderate amber color, severe attrition, severe periapical radiolucencies, ; permanent teeth moderate amber color, severe increased constriction at CEJ, moderate attrition, severe obliterated pulps in erupted teeth, mild obliterated pulps in unerupted teeth, moderate obliterated root canals in erupted teeth, mild obliterated root canals in unerupted teeth, mild thistle-tube or funnel shape of pulp chamber, no shorter root length, moderate thinner roots, severe periapical radiolucencies 1 1 Global Variome, with Curator vacancy
00385913 V1.09 PubMed: Prasad 2016 - F - - - - - - - DTDP isolated dentin dysplasia 1 1 Johan den Dunnen
00385914 V1.10 PubMed: Prasad 2016 - M - - - - - - - DGI isolated dentinogenesis imperfecta 1 1 Johan den Dunnen
00385915 V2.36 PubMed: Prasad 2016 - M - - - - - - - DGI isolated dentinogenesis imperfecta 1 1 Johan den Dunnen
00385916 V2.55 PubMed: Prasad 2016 - F - - - - - - - DGI isolated dentinogenesis imperfecta 1 1 Johan den Dunnen
00385917 V2.57 PubMed: Prasad 2016 - F - - - - - - - DGI isolated dentinogenesis imperfecta 1 1 Johan den Dunnen
00385918 V2.59 PubMed: Prasad 2016 - F - - - - - - - DGI isolated dentinogenesis imperfecta 1 1 Johan den Dunnen
00424040 Fam2PatII2 PubMed: Nieminen 2011 relative - - France - - - - - DTDP primary teeth severe amber color, severe increased constriction at CEJ, moderate attrition, moderate obliterated pulps, moderate obliterated root canals, moderate thistle-tube or funnel shape of pulp chamber, no shorter root length, moderate thinner roots, no periapical radiolucencies, no shell teeth; permanent teeth mild amber color, mild increased constriction at CEJ, no attrition, no obliterated pulps in erupted teeth, no obliterated pulps in unerupted teeth, mild obliterated root canals in erupted teeth, no obliterated root canals in unerupted teeth, moderate thistle-tube or funnel shape of pulp chamber, mild thinner roots, no periapical radiolucencies 1 1 Johan den Dunnen
00424042 Fam6PatII1 PubMed: Nieminen 2011 relative - - Finland - - - - - DTDP primary teeth severe amber color, no increased constriction at CEJ, no attrition, moderate obliterated pulps, moderate obliterated root canals, severe thistle-tube or funnel shape of pulp chamber, no shorter root length, no thinner roots, no periapical radiolucencies, no shell teeth; permanent teeth no amber color, no increased constriction at CEJ, no attrition, no obliterated pulps in unerupted teeth, 1 1 Johan den Dunnen
00424043 Fam3PatII1 PubMed: Nieminen 2011 family - - Greece - - - - - DGI primary teeth severe amber color, no increased constriction at CEJ, moderate attrition, moderate obliterated pulps, mild obliterated root canals, severe thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, mild periapical radiolucencies, no shell teeth; permanent teeth no amber color, no increased constriction at CEJ, no attrition, no obliterated pulps in unerupted teeth, no obliterated root canals in unerupted teeth, 1 1 Johan den Dunnen
00424044 Fam4PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - DGI primary teeth severe amber color, no increased constriction at CEJ, moderate attrition, moderate obliterated pulps, moderate obliterated root canals, no thistle-tube or funnel shape of pulp chamber, no shorter root length, no thinner roots, moderate periapical radiolucencies, no shell teeth; permanent teeth no amber color, no increased constriction at CEJ, no obliterated pulps in unerupted teeth, no obliterated root canals in unerupted teeth, 1 1 Johan den Dunnen
00424045 Fam5PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - DGI primary teeth severe amber color, no increased constriction at CEJ, mild attrition, moderate obliterated pulps, no obliterated root canals, no thistle-tube or funnel shape of pulp chamber, no shorter root length, moderate thinner roots, no periapical radiolucencies, no shell teeth; 1 1 Johan den Dunnen
00424046 Fam8PatII1 PubMed: Nieminen 2011 family, 2 affected - - Finland - - - - - DGI permanent teeth mild amber color, mild increased constriction at CEJ, mild attrition, moderate obliterated pulps in erupted teeth, severe obliterated root canals in erupted teeth, moderate thistle-tube or funnel shape of pulp chamber, mild shorter root length, no thinner roots, no periapical radiolucencies; 1 2 Johan den Dunnen
00424047 Fam8PatII2 PubMed: Nieminen 2011 relative - - Finland - - - - - DGI primary teeth mild increased constriction at CEJ, moderate attrition, moderate obliterated pulps, moderate obliterated root canals, no thistle-tube or funnel shape of pulp chamber, no shell teeth; , permanent teeth no increased constriction at CEJ, no obliterated pulps in erupted teeth, no obliterated pulps in unerupted teeth, moderate obliterated root canals in erupted teeth, mild obliterated root canals in unerupted teeth, severe thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, no periapical radiolucencies 1 1 Johan den Dunnen
00424048 Fam11PatIII5 PubMed: Nieminen 2011 relative - - Finland - - - - - DGI permanent teeth moderate amber color, severe periapical radiolucencies; 1 1 Johan den Dunnen
00424049 Fam11PatIII9 PubMed: Nieminen 2011 relative - - Finland - - - - - DGI permanent teeth moderate amber color, severe periapical radiolucencies; 1 1 Johan den Dunnen
00424050 Fam11PatIII20 PubMed: Nieminen 2011 relative - - Finland - - - - - DGI primary teeth moderate amber color, severe attrition, no periapical radiolucencies, ; permanent teeth moderate amber color, severe increased constriction at CEJ, no attrition, severe obliterated pulps in erupted teeth, mild obliterated pulps in unerupted teeth, severe obliterated root canals in erupted teeth, no obliterated root canals in unerupted teeth, no thistle-tube or funnel shape of pulp chamber, no shorter root length, severe thinner roots, severe periapical radiolucencies 1 1 Johan den Dunnen
00424051 Fam11PatIV4 PubMed: Nieminen 2011 relative - - Finland - - - - - DGI primary teeth moderate amber color, moderate increased constriction at CEJ, moderate attrition, moderate obliterated pulps, moderate obliterated root canals, moderate periapical radiolucencies, no shell teeth; permanent teeth moderate amber color, severe increased constriction at CEJ, mild attrition, severe obliterated pulps in erupted teeth, mild obliterated pulps in unerupted teeth, moderate obliterated root canals in erupted teeth, mild obliterated root canals in unerupted teeth, mild thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, severe periapical radiolucencies 1 1 Johan den Dunnen
00428675 Fam37 PubMed: Wonkam 2022 3-generation family, 2 affected twins sisters F no Ghana Africa - - - - DFNB - 2 2 Yacouba Dia
00441518 6708 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
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