All individuals with variants in gene ADAMTS2

26 entries on 1 page. Showing entries 1 - 26.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00293828 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 28 Mohammed Faruq
00293829 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293830 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00318169 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - 2 1 Sofie Symoens
00318170 - PubMed: Bo et al., 2020 The patient was diagnosed with situs inversus totalis, and idiopathic thrombocytopenia purpura. The variant was described in the paper as an insertion at c.123_124, but is in fact a duplication of c.102_123. It was detected via exome sequencing, and thus the authors were uncertain if the patient had compound heterogeneity for another variant in ADAMTS2. The technique used was whole exome sequencing. - - - - - - - - ? - 1 1 Raymond Dalgleish
00318171 - PubMed: Chen et al., 2020 This deleterious SNP is highly associated with intracranial aneurysm. The technique used was whole exome sequencing. The technique used was whole genome sequencing. - - China Han Chinese - - - - ? Distal aneurysms and dissections, 1 1 Raymond Dalgleish
00318172 P8 PubMed: Colige et al., 2004 This patient was subsequently described by PubMed: Malfait et al., 2004. The exact boundaries of the maternal deletion were not determined. - - - white - - - - EDS, EDSDERMS - 2 1 Raymond Dalgleish
00318173 P7 PubMed: Colige et al., 2004 This patient was subsequently described by PubMed: Malfait et al., 2004. The exact boundaries of the deletion variant were not determined. - - - white - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318174 Patient 6 PubMed: Colige et al., 1999 - - - - Jewish-Ashkenazi - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318175 Patient 2 PubMed: Colige et al., 1999 This patient was previously described by PubMed: Smith et al., 1992. - - - - - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318176 Patient 3 PubMed: Colige et al., 1999 This patient was previously described by {PMID8215497:Petty et al., 1993}. - - - - - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318177 Patient 4 PubMed: Colige et al., 1999 This patient was previously described by {PMID8986271:Fujimoto et al., 1997}. - - Mexico Mexican - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318178 Patient 5 PubMed: Colige et al., 1999 This patient was previously described by {PMID7735500:Reardon et al., 1995}. - - United Kingdom (Great Britain) British - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318179 - PubMed: Bar-Yosef et al., 2008 This variant is later described in {PMID29795570:Rivas et al., 2018} as a variant significantly enriched in the Ashkenazi Jewish population, with further detail. - - - Jewish-Ashkenazi - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318180 - PubMed: Matullo et al., 2013 This variant is significantly associated with malignant pleural mesothelioma, a condition caused by exposure to asbestos with genetic components. The technique used was whole genome sequencing. - - Italy - - - - - ? - 1 1 Raymond Dalgleish
00318181 - PubMed: Iglesias et al., 2018 This variant is associated with central corneal thickness, derived from a meta-analysis of GWAS. It has an average population frequency of 0.29 in Europeans and 0.11 in an Asian population. The technique used was whole genome sequencing. - - - - - - - - ? - 1 1 Raymond Dalgleish
00318182 - PubMed: Arning et al., 2012 This SNP is highly associated with pediatric stroke. The technique used was whole genome sequencing. - - - - - - - - ? - 1 1 Raymond Dalgleish
00318183 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - 1 1 Sofie Symoens
00318184 Patient 1 PubMed: Colige et al., 1999 This patient was previously descibed by PubMed: Nusgens et al., 1992 and subsequently by PubMed: Malfait et al., 2004 and in PubMed: De Coster et al., 2006 - - - white - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318185 - PubMed: Solomons et al., 2013 The parents of this patient are first cousins with no family history of the disease. - - Pakistan Pakistani - - - - EDS, EDSDERMS - 1 1 Raymond Dalgleish
00318186 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - 1 1 Sofie Symoens
00318187 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - 1 1 Sofie Symoens
00318188 - PubMed: Chen et al., 2020 This deleterious SNP is highly associated with intracranial aneurysms. The technique used was whole exome sequencing. The technique used was whole genome sequencing. - - China Han Chinese - - - - ? Distal aneurysms and dissections, 1 1 Raymond Dalgleish
00318189 Patient 4 PubMed: van der Wekken et al., 2017 This variant is associated with afatinib-resistance in non-small cell lung carcinoma (NSCLC) patients that have been previously treated with geftinib or erlotinib, and subsequently with afatinib. The variant has a CADD score of 40, and is highly deleterious.The technique used was whole exome sequencing. - - - - - - - - ? - 1 1 Raymond Dalgleish
00359337 - Invitae Diagnostic Testing - F - United States Hispanic, white - - - - EDS - 1 1 Annette Cherry
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