All individuals with variants in gene TMEM127

84 entries on 1 page. Showing entries 1 - 84.
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00037241 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037242 - - - - - Germany - - - - - ? suspected neurinom BWS, developmental delay, paraganglioma, pheochromocytoma 1 1 Andreas Laner
00096031 - PubMed: Qin 2010 - F no - white - - yes surgery pheochromocytoma - 1 1 Patricia Dahia
00100332 25800244-FamProband PubMed: Hernandez 2015, Journal: Hernandez 2015 2-generation family, affected mother and 3 heterozygous carrier sons F ? Canada - - - - left adrenalectomy and partial nephrectomy pheochromocytoma, RCC multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son 1 4 Shahida Flores
00103956 15_PD PubMed: Yao 2010 - F - United States - - - - - pheochromocytoma no family history, benign adrenal tumor, tumor DNA not tested for LOH 1 1 Shahida Flores
00103957 9_PD PubMed: Yao 2010 - F - United States - - - - - pheochromocytoma benign adrenal tumor, LOH in tumor 1 1 Shahida Flores
00103958 2_PD PubMed: Yao 2010 - F - United States - - - - - pheochromocytoma benign adrenal tumor, no family history, acrocyanosis 1 1 Shahida Flores
00164780 - PubMed: Yao 2010 - M - United Kingdom (Great Britain) - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164782 - PubMed: Yao 2010 - F - Italy - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164783 - PubMed: Yao 2010 - M - Italy - - - - - pheochromocytoma Bone marrow failure 1 1 Gustavo Armaiz-Pena
00164784 - Journal: King 2015 - M - - - - - - - ES - 1 1 Gustavo Armaiz-Pena
00164785 - PubMed: Yao 2010 - F - Brazil - - - - - pheochromocytoma Macrovascular disease 1 1 Gustavo Armaiz-Pena
00164786 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164787 - PubMed: Qin 2010 - M - - - - - - - RCC - 1 1 Gustavo Armaiz-Pena
00164788 - PubMed: Yao 2010 - - - Italy - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164789 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164790 - PubMed: Qin 2010 - M - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164791 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164792 - Journal: King 2015 - M - - - - - - - PMA Craniopharyngioma 1 1 Gustavo Armaiz-Pena
00164793 - PubMed: Qin 2014 - M - - - - - - - RCC - 1 1 Gustavo Armaiz-Pena
00164794 - PubMed: Qin 2014 - F - - - - - - - RCC Breast Cancer 1 1 Gustavo Armaiz-Pena
00164795 - PubMed: Yao 2010 - F - Spain - - - - - pheochromocytoma Breast Cancer 1 1 Gustavo Armaiz-Pena
00164797 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma Epi, norepi secretion 1 1 Gustavo Armaiz-Pena
00164798 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164799 - PubMed: Yao 2010 - F - Belgium - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164800 - PubMed: Yao 2010 - M - Italy - - - - - pheochromocytoma Diffuse metastases 1 1 Gustavo Armaiz-Pena
00164803 - PubMed: Yao 2010 - F - Italy - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164806 - PubMed: Qin 2010 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164807 - Journal: Deng 2017 - F - - - - - - - pheochromocytoma RCC Epinephrine secreter 1 1 Gustavo Armaiz-Pena
00164808 - PubMed: Yao 2010 - F - Italy - - - - - pheochromocytoma Papillary thyroid carcinoma, medullary thyroid hyperplasia 1 1 Gustavo Armaiz-Pena
00164809 - PubMed: Lefebvre 2012 - ? - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164811 - PubMed: Bausch 2017 - F - United States - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164812 - PubMed: Bausch 2017 - M - United States - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164813 - PubMed: Bausch 2017 - F - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164814 - PubMed: Bausch 2017 - - - (United States) - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164815 - PubMed: Bausch 2017 - M - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00164816 - PubMed: Flinn 2016 - - - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165105 - PubMed: Gupta 2017 - ? - - - - - - - PGL Renal Cell Carcinoma 1 1 Gustavo Armaiz-Pena
00165106 - PubMed: Lefebvre 2012 - ? - - - - - - - pheochromocytoma Metastasis 1 1 Gustavo Armaiz-Pena
00165107 - PubMed: Gupta 2017 - ? - - - - - - - PGL Renal papillary adenoma 1 1 Gustavo Armaiz-Pena
00165108 - PubMed: Papathomas 2015 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165109 - PubMed: Takeichi 2012 - M - - - - - - - pheochromocytoma Epinephrine Secreter 1 1 Gustavo Armaiz-Pena
00165110 - PubMed: Takeichi 2012 - M - - - - - - - pheochromocytoma Epinephrine secreter 1 1 Gustavo Armaiz-Pena
00165111 - PubMed: Papathomas 2015 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165112 - PubMed: Bausch 2017 - F - Poland - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165113 - PubMed: Burnichon 2012 - F - - - - - - - pheochromocytoma Epinephrine secretor 1 1 Gustavo Armaiz-Pena
00165114 - PubMed: Hamidi 2017 - M - - - - - - - PGL Metastasis 1 1 Gustavo Armaiz-Pena
00165132 - PubMed: Abermil 2012 - F - - - - - - - pheochromocytoma Epinephrine secretor 1 1 Gustavo Armaiz-Pena
00165133 - PubMed: Abermil 2012 - F - - - - - - - pheochromocytoma Parathyroid adenoma 1 1 Gustavo Armaiz-Pena
00165134 - PubMed: Bausch 2017 - F - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165135 - PubMed: Papathomas 2015 - M - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165136 - PubMed: Casey 2017 - M - - - - - - - pheochromocytoma Dopamine secreter 1 1 Gustavo Armaiz-Pena
00165137 - PubMed: Fishbein 2017 - M - - - - - - - pheochromocytoma Epi and Norepi secretor 1 1 Gustavo Armaiz-Pena
00165162 - PubMed: Gupta 2017 - ? - - - - - - - RCC - 1 1 Gustavo Armaiz-Pena
00165163 - PubMed: Abermil 2012 - M - - - - - - - pheochromocytoma Epinephrine secretor 1 1 Gustavo Armaiz-Pena
00165164 - PubMed: Lefebvre 2012 - ? - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165165 - PubMed: Hernandez 2015 - F - - - - - - - pheochromocytoma RCC (clear cell features), low mitotic rate, focal lipid cell change, thyroid nodule. Epinephrine secretor 1 1 Gustavo Armaiz-Pena
00165166 - PubMed: Papathomas 2015 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165167 - PubMed: Bausch 2017 - F - Germany - - - - - PGL - 1 1 Gustavo Armaiz-Pena
00165168 - PubMed: Bausch 2017 - M - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165169 - PubMed: Bausch 2017 - M - Germany - - - - - PGL - 1 1 Gustavo Armaiz-Pena
00165170 - PubMed: Elston 2013 - M - - - - - - - pheochromocytoma Epinephrine secreter 1 1 Gustavo Armaiz-Pena
00165171 - PubMed: Lefebvre 2012 - ? - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165172 - PubMed: Patocs 2016 - ? - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165173 - PubMed: Bausch 2017 - F - Hungary - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165174 - PubMed: Bausch 2017 - - - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165202 - PubMed: Patocs 2016 - ? - - - - - - - pheochromocytoma Head and Neck PGL 1 1 Gustavo Armaiz-Pena
00165203 - PubMed: Bausch 2017 - F - Hungary - - - - - pheochromocytoma Head and Neck PGL 1 1 Gustavo Armaiz-Pena
00165204 - PubMed: Lefebvre 2012 - - - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165205 - PubMed: Abermil 2012 - M - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165206 - PubMed: Abermil 2012 - F - - - - - - - pheochromocytoma Epinephrine secreter 1 1 Gustavo Armaiz-Pena
00165207 - PubMed: Bausch 2017 - F - Germany - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165208 - PubMed: Bausch 2017 - F - Poland - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165209 - PubMed: Bausch 2017 - F - Israel - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165210 - PubMed: Bausch 2017 - F - Turkey - - - - - pheochromocytoma Retro peritoneal PGL 1 1 Gustavo Armaiz-Pena
00165212 - PubMed: Bausch 2017 - F - Germany - - - - - PGL - 1 1 Gustavo Armaiz-Pena
00165213 - PubMed: Bausch 2017 - F - Turkey - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165214 - PubMed: Bausch 2017 - F - Hungary - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165215 - PubMed: Bausch 2017 - F - Sweden - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165216 - PubMed: Patocs 2016 - ? - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165217 - PubMed: Yu 2017 - F - - - - - - - pheochromocytoma - 1 1 Gustavo Armaiz-Pena
00165218 - PubMed: Welander 2014 - F - - - - - - - pheochromocytoma Norepinephrine secreter 1 1 Gustavo Armaiz-Pena
00234343 - Journal: Fernández-Pombo2019 3-generation family, affected mother and 2 unaffected carrier children (9y, 6y) F no Spain white 40y - - - pheochromocytoma see paper; hypotension 1 1 David Araujo-Vilar
00292854 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
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