All individuals with variants in gene LDLR

3038 entries on 31 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00033731 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033771 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033772 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033773 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033775 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 2 1 Ingrid Braenne
00033778 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033779 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033781 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033782 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033784 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033785 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033788 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033789 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033790 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033792 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00033793 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - FHCL2, MCI-1 - 1 1 Ingrid Braenne
00034385 - PubMed: Chahil 2012, Journal: Chahil 2012 brother from 2-generation family, affected brother/sister, clinically asymptomatic parents M ? Malaysia Malay >11y 0 - - FH see paper; 18 DCLN points, LDLC 13.25 mmol/L, arcus cornealis (HP:0001084), no xanthelasma (-HP:0001114), tendious xanthomas (HP:0010874; tuberous, no planar), tendinous xanthomata (HP:0000991), cardiomegaly (HP:0001640), ... 1 2 Jagdish Kaur Chahil
00056431 - PubMed: Chahil 2012, Journal: Chahil 2012 sister of subject21 F ? Malaysia Malay >9y 0 - - FH see paper; 14 DCLN points, LDLC 17.38 mmol/L, no arcus cornealis (-HP:0001084), no xanthelasma (-HP:0001114), xanthomas (HP:0010874; planar, no tuberous), no tendinous xanthomata (-HP:0000991), no cardiomegaly (-HP:0001640), ... 1 1 Jagdish Kaur Chahil
00058615 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH - 1 1 Dominika Gabcova
00058616 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH - 1 1 Dominika Gabcova
00058617 - - - F no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 11.2 mmol/l LDL-C 8.6 TAG 3.0 1 1 Dominika Gabcova
00058618 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 7.8 mmol/l LDL-C 6.5 1 1 Dominika Gabcova
00058619 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 10.3 mmol/l LDL-C 8.8 TAG 1.6 1 1 Dominika Gabcova
00058620 - - - F no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 10 mmol/l LDL-C 8 TAG 1.6 1 1 Dominika Gabcova
00058621 - - - F no ? (unknown) - - 0 no - FH TC 9 mmol/l LDL-C 5 mmol/l TG 1 mmol/l 1 1 Dominika Gabcova
00058622 - - - F no Slovakia (Slovak Republic) causacian - 0 yes - FH - 1 1 Dominika Gabcova
00058623 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 9.1 mmol/l LDL-C 6.6 TAG 1.1 1 1 Dominika Gabcova
00058624 - - - F no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 10.8 mmol/l LDL-C 8.8 mmol/l TAG 2 mmol/l 1 1 Dominika Gabcova
00058625 - - - F no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 7.4 mmol/l LDL-C 5.6 mmol/l TAG 0.9 mmol/l 1 1 Dominika Gabcova
00058823 - - - M no Slovakia (Slovak Republic) causacian - 0 yes - FH TC 7.9 mmol/l LDL-C 6 mmol/l TAG 1.1 mmol/l 1 1 Dominika Gabcova
00060318 - PubMed: Scholtz 1999 - - - South Africa Indigenous ZA - 0 - - FH - 1 1 Sarah Leigh
00060319 - PubMed: Whittall 2002 - - - United Kingdom (Great Britain) Indigenous African - 0 - - FH - 1 1 Sarah Leigh
00060320 - PubMed: Bodamer 2002 - - - United States US - 0 - - FH - 1 1 Sarah Leigh
00060321 - PubMed: Scholtz 1999 - - - South Africa Mixed - 0 - - FH - 1 1 Sarah Leigh
00060322 - PubMed: Snozek 2009 - - - United States African American - 0 - - FH Hmz phenotype, 48yr old female, MI, CVD, stents, TC 483mg/dl, LDL-C 393mg/dlm TG 282mg/dl, poor response to statins. No family history or samples because patient is adopted 1 1 Sarah Leigh
00060323 - PubMed: Usifo 2012 - - - United Kingdom (Great Britain) Unknown - 0 - - FH - 1 1 Sarah Leigh
00060324 - PubMed: De Castro-Oros 2011 Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >270 mg/dl - - Spain Spanish - 0 - - FH probable familial hypercholesterolemia 1 1 Sarah Leigh
00060325 - PubMed: Lind 2002 - - - Sweden SE - 0 - - FH - 1 1 Sarah Leigh
00060326 - PubMed: Fouchier 2005 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060327 - PubMed: Fouchier 2005 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060328 - PubMed: Peeters 1998 - - - South Africa Pedi tribe - 0 - - FH - 1 1 Sarah Leigh
00060329 - PubMed: Dedoussis 2004 - - - Germany DE - 0 - - FH - 1 1 Sarah Leigh
00060330 - PubMed: De Castro-Oros 2011 Proband from FH family, with TX and CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >330 mg/dl - - Spain Spanish - 0 - - FH definite familial hypercholesterolemia 1 1 Sarah Leigh
00060331 - PubMed: Francova 2004 - - - Czech Republic CZ - 0 - - FH - 1 1 Sarah Leigh
00060332 - PubMed: Scholtz 1999 - - - South Africa non-European - 0 - - FH - 1 1 Sarah Leigh
00060333 - PubMed: Khoo 2000 - - - China CN - 0 - - FH 62yr old male, TC, LDL-C , HDL-C , TG , TX, acute MI or angina pectoris 1 1 Sarah Leigh
00060334 - PubMed: Brusgaard 2006 - - - Denmark DK - 0 - - FH - 1 1 Sarah Leigh
00060335 - PubMed: Tichy 2012 - - - Czech Republic Unknown - 0 - - FH - 1 1 Sarah Leigh
00060336 - PubMed: Day 1997 - - - United Kingdom (Great Britain) GB - 0 - - FH - 1 1 Sarah Leigh
00060337 - PubMed: Mozas 2002 - - - Spain ES - 0 - - FH - 1 1 Sarah Leigh
00060338 - PubMed: Leren 2004 - - - Norway Unknown - 0 - - FH - 1 1 Sarah Leigh
00060339 - PubMed: Alonso 2009 - - - Spain ES - 0 - - FH - 1 1 Sarah Leigh
00060340 - PubMed: De Castro-Oros 2011 Proband from FH family, with TX. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 270 mg/dl - - Spain Spanish - 0 - - FH definite familial hypercholesterolemia 1 1 Sarah Leigh
00060341 - PubMed: De Castro-Oros 2011 Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 415 mg/dl - - Spain Spanish - 0 - - FH definite familial hypercholesterolemia 1 1 Sarah Leigh
00060342 - PubMed: Smith 2007 - - - United Kingdom (Great Britain) TR - 0 - - FH - 1 1 Sarah Leigh
00060343 - PubMed: Fouchier 2005 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060344 - PubMed: Sun 1995 - - - United Kingdom (Great Britain) Welsh - 0 - - FH - 1 1 Sarah Leigh
00060345 - PubMed: Dedoussis 2003 - - - Greece GR - 0 - - FH - 1 1 Sarah Leigh
00060346 - PubMed: Dedoussis 2003 - - - United States US - 0 - - FH - 1 1 Sarah Leigh
00060347 - PubMed: Mak 1998 - - - China CN - 0 - - FH - 1 1 Sarah Leigh
00060348 - PubMed: Koivisto 1994 - - - Finland Finland - 0 - - FH - 1 1 Sarah Leigh
00060349 - PubMed: Kim 2004 - - - Korea, South (Republic) KR - 0 - - FH - 1 1 Sarah Leigh
00060350 - PubMed: Leren 2004 - - - Norway Unknown - 0 - - FH - 1 1 Sarah Leigh
00060351 - PubMed: Fouchier 2005 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060352 - PubMed: Jensen 1996 - - - Denmark DK - 0 - - FH Untreated TC 13.3 mmol/L, LDL-C 10.9 mmol/L, HDL 1.6 mmol/L, TG 1.8 mmol/L. No relative available to screen 1 1 Sarah Leigh
00060353 - PubMed: De Castro-Oros 2011 Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >500 mg/dl - - Spain Spanish - 0 - - FH definite familial hypercholesterolemia 1 1 Sarah Leigh
00060354 - PubMed: Hobbs 1992 - - - Colombia CO - 0 - - FH - 1 1 Sarah Leigh
00060355 - PubMed: Mozas 2004 - - - Spain ES - 0 - - FH - 1 1 Sarah Leigh
00060356 - PubMed: Bourbon 2009 - - - Portugal Unknown - 0 - - FH - 1 1 Sarah Leigh
00060357 - PubMed: Medeiros 2010 - - - Portugal Unknown - 0 - - FH - 1 1 Sarah Leigh
00060358 - PubMed: Taylor 2010 - - - United Kingdom (Great Britain) Unknown - 0 - - FH - 1 1 Sarah Leigh
00060359 - PubMed: Hooper 2012 - - - Australia Unknown - 0 - - FH DLCNC score 6 1 1 Sarah Leigh
00060360 - PubMed: Francova 2004 - - - Czech Republic CZ - 0 - - FH 16 yr old male TC 6 mmol /L, LDL-C 4.3mmol /L , HDL-C 1.1mmol /L, TG 0.6mmol /L 1 1 Sarah Leigh
00060361 - PubMed: Francova 2004 - - - Czech Republic CZ - 0 - - FH 13 yr old male TC 5.8 mmol /L, LDL-C 3.2mmol /L , HDL-C1.23mmol /L, TG 1.6mmol /L 1 1 Sarah Leigh
00060362 - PubMed: Francova 2004 - - - Czech Republic CZ - 0 - - FH 11 yr old female TC 7.4 mmol /L, LDL-C 5.9mmol /L , HDL-C1.3mmol /L, TG 1mmol /L 1 1 Sarah Leigh
00060363 - PubMed: Alonso 2009 - - - Spain ES - 0 - - FH - 1 1 Sarah Leigh
00060364 - PubMed: Usifo 2012 - - - United Kingdom (Great Britain) Unknown - 0 - - FH - 1 1 Sarah Leigh
00060365 - PubMed: De Castro-Oros 2011 Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 220 mg/dl - - Spain Spanish - 0 - - FH probable familial hypercholesterolemia 1 1 Sarah Leigh
00060366 - PubMed: Laurie 2004 - - - New Zealand European - 0 - - FH - 1 1 Sarah Leigh
00060367 - PubMed: De Castro-Oros 2011 Proband from FH family, no variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 195 mg/dl - - Spain Spanish - 0 - - FH probable familial hypercholesterolemia 1 1 Sarah Leigh
00060368 - PubMed: Mozas 2004 - - - Spain ES - 0 - - FH - 1 1 Sarah Leigh
00060369 - PubMed: Sozen 2005 - - - Turkey TR - 0 - - FH - 1 1 Sarah Leigh
00060370 - PubMed: Day 1997 - - - United Kingdom (Great Britain) GB - 0 - - FH - 1 1 Sarah Leigh
00060371 - PubMed: Medeiros 2010 - - - Portugal Unknown - 0 - - FH - 1 1 Sarah Leigh
00060372 - PubMed: Fouchier 2005 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060373 - PubMed: Amsellem 2002 - - - France FR - 0 - - FH - 1 1 Sarah Leigh
00060374 - PubMed: Miljkovic J Lipid Res. 2010 - - - Trinidad and Tobago African - 0 - - Healthy/Control - 1 1 Sarah Leigh
00060375 - PubMed: Bertolini 2013 Found in 3 Htz in one family. mRNA analysis performed, peptide change predicted. - - Italy IT - 0 - - FH - 1 3 Sarah Leigh
00060376 - PubMed: Maruyama 1998 - - - Japan JP - 0 - - FH 20 yrs old female clinically hmz from consanguinous parents. 26.0 mmol/L9 (TC?), TX, MI at 18 years. 1 1 Sarah Leigh
00060377 - PubMed: Usifo 2012 - - - United Kingdom (Great Britain) Unknown - 0 - - FH - 1 1 Sarah Leigh
00060378 - PubMed: Leren 2004 - - - Norway Unknown - 0 - - FH - 1 1 Sarah Leigh
00060379 - PubMed: Tichy 2012 found in one proband - - Czech Republic Unknown - 0 - - FH - 1 1 Sarah Leigh
00060380 - PubMed: Lombardi 2000 - - - Netherlands NL - 0 - - FH - 1 1 Sarah Leigh
00060381 - PubMed: Peeters 1999 - - - Belgium BE - 0 - - FH (1) TC 9·1, TG 1·1, HDL-C 1·4, LDL-C 7·2mmol/l. (2) TC 9·8, TG 1·0, HDL-C 0·5, LDL-C 8·8mmol/l. Neither had XT or CHD 1 2 Sarah Leigh
00060382 - PubMed: Chmara 2010 - - - Poland Unknown - 0 - - FH - 1 1 Sarah Leigh
00060383 - PubMed: Widhalm 2007 - - - Austria AT - 0 - - FH - 1 1 Sarah Leigh
00060384 - PubMed: Wang 2005 - - - Canada CA - 0 - - FH - 1 1 Sarah Leigh
00060385 - PubMed: Chmara 2010 - - - Poland Unknown - 0 - - FH - 1 1 Sarah Leigh
00060386 - PubMed: Medeiros 2010 - - - Portugal Unknown - 0 - - FH - 1 1 Sarah Leigh
00060387 - PubMed: Leren 2004 - - - Norway Unknown - 0 - - FH - 1 1 Sarah Leigh
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »