Loading…
Reassessment of predictive values of ACTH‐stimulated serum 21‐deoxycortisol and 17‐hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects
Costa‐Barbosa, Flávia A., Carvalho, Valdemir M., Oliveira, Kelly C., Vieira, José Gilberto H., Kater, Claudio E.
Published in Clinical endocrinology (Oxford) (01.10.2021)
Published in Clinical endocrinology (Oxford) (01.10.2021)
Get full text
Journal Article
Loading…
Pilot Clinical Study Showing Abnormal Copper Metabolism in Healthy Wilson Disease Heterozygote Subjects
Benichou, Bernard, Combal, Jean‐Philippe, Dogterom, Peter, Sandahl, Thomas D., D'Antiga, Lorenzo, Schilsky, Michael
Published in Clinical and translational science (01.07.2025)
Published in Clinical and translational science (01.07.2025)
Get full text
Journal Article
Loading…
Marked Alteration of Rosuvastatin Pharmacokinetics in Healthy Chinese with ABCG2 34G>A and 421C>A Homozygote or Compound Heterozygote
Wan, Zirui, Wang, Guo, Li, Tailin, Xu, Biaobo, Pei, Qi, Peng, Yan, Sun, Hong, Cheng, Lijuan, Zeng, Ying, Yang, Guoping, Zhu, Yuan-Shan
Published in The Journal of pharmacology and experimental therapeutics (01.09.2015)
Published in The Journal of pharmacology and experimental therapeutics (01.09.2015)
Get full text
Journal Article
Loading…
Loading…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Published in Nature communications (12.07.2019)
Published in Nature communications (12.07.2019)
Get full text
Journal Article
Loading…
Clinical phenotype in heterozygote and biallelic Bernard‐Soulier syndrome—A case control study
Bragadottir, Gudrun, Birgisdottir, Elisabet R., Gudmundsdottir, Brynja R., Hilmarsdottir, Bylgja, Vidarsson, Brynjar, Magnusson, Magnus K., Larsen, Ole Halfdan, Sorensen, Benny, Ingerslev, Jorgen, Onundarson, Pall T.
Published in American journal of hematology (01.02.2015)
Published in American journal of hematology (01.02.2015)
Get full text
Journal Article
Loading…
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
Guarnotta, Valentina, Niceta, Marcello, Bono, Marianna, Marchese, Serena, Fabiano, Carmelo, Indelicato, Serena, Di Gaudio, Francesca, Garofalo, Piernicola, Giordano, Carla
Published in The Journal of steroid biochemistry and molecular biology (01.04.2020)
Published in The Journal of steroid biochemistry and molecular biology (01.04.2020)
Get full text
Journal Article
Loading…
β-Thalassemia heterozygote state detrimentally affects health expectation
Graffeo, Luciano, Vitrano, Angela, Scondotto, Salvatore, Dardanoni, Gabriella, Pollina Addario, Walter Sebastiano, Giambona, Antonino, Sacco, Massimiliano, Di Maggio, Rosario, Renda, Disma, Taormina, Federico, Triveri, Andrea, Attanasio, Massimo, Gluud, Christian, Maggio, Aurelio
Published in European journal of internal medicine (01.08.2018)
Published in European journal of internal medicine (01.08.2018)
Get full text
Journal Article
Loading…
The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
Flegr, Jaroslav, Příplatová, Lenka, Hlaváčová, Jana, Šebánková, Blanka, Žďárský, Emanuel, Kaňková, Šárka
Published in Scientific reports (09.11.2021)
Published in Scientific reports (09.11.2021)
Get full text
Journal Article
Loading…
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
Domínguez-Ruiz, María, García-Martínez, Alberto, Corral-Juan, Marc, Pérez-Álvarez, Ángel I., Plasencia, Ana M., Villamar, Manuela, Moreno-Pelayo, Miguel A., Matilla-Dueñas, Antoni, Menéndez-González, Manuel, del Castillo, Ignacio
Published in Journal of translational medicine (28.08.2019)
Published in Journal of translational medicine (28.08.2019)
Get full text
Journal Article
Loading…
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote
Hooper, Amanda J., Robertson, Ken, Champain, Danie, Hua, Jianmin, Song, Swithin, Parhofer, Klaus G., Barrett, P. Hugh R., van Bockxmeer, Frank M., Burnett, John R.
Published in Clinical biochemistry (01.06.2016)
Published in Clinical biochemistry (01.06.2016)
Get full text
Journal Article
Loading…
COVID-19: beta-thalassemia subjects immunised?
Lansiaux, Edouard, Pébaÿ, Philippe Pierre, Picard, Jean-Laurent, Son-Forget, Joachim
Published in Medical hypotheses (01.09.2020)
Published in Medical hypotheses (01.09.2020)
Get full text
Journal Article
Loading…
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
Schubert, Desirée, Klein, Marie-Christine, Hassdenteufel, Sarah, Caballero-Oteyza, Andrés, Yang, Linlin, Proietti, Michele, Bulashevska, Alla, Kemming, Janine, Kühn, Johannes, Winzer, Sandra, Rusch, Stephan, Fliegauf, Manfred, Schäffer, Alejandro A., Pfeffer, Stefan, Geiger, Roger, Cavalié, Adolfo, Cao, Hongzhi, Yang, Fang, Li, Yong, Rizzi, Marta, Eibel, Hermann, Kobbe, Robin, Marks, Amy L., Peppers, Brian P., Hostoffer, Robert W., Puck, Jennifer M., Zimmermann, Richard, Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.04.2018)
Published in Journal of allergy and clinical immunology (01.04.2018)
Get full text
Journal Article
Loading…
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency
Costa-Barbosa, Flávia A., Tonetto-Fernandes, Vânia F., Carvalho, Valdemir M., Nakamura, Odete H., Moura, Vivian, Bachega, Tânia A. S. S., Vieira, José G. H., Kater, Claudio E.
Published in Clinical endocrinology (Oxford) (01.12.2010)
Published in Clinical endocrinology (Oxford) (01.12.2010)
Get full text
Journal Article
Loading…
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects
Mishra, Aniket, Chauhan, Ganesh, Violleau, Marie-Helene, Vojinovic, Dina, Jian, Xueqiu, Bis, Joshua C, Li, Shuo, Saba, Yasaman, Grenier-Boley, Benjamin, Yang, Qiong, Bartz, Traci M, Hofer, Edith, Soumaré, Aïcha, Peng, Fen, Duperron, Marie-Gabrielle, Foglio, Mario, Mosley, Thomas H, Schmidt, Reinhold, Psaty, Bruce M, Launer, Lenore J, Boerwinkle, Eric, Zhu, Yicheng, Mazoyer, Bernard, Lathrop, Mark, Bellenguez, Celine, Van Duijn, Cornelia M, Ikram, M Arfan, Schmidt, Helena, Longstreth, W T, Fornage, Myriam, Seshadri, Sudha, Joutel, Anne, Tzourio, Christophe, Debette, Stephanie
Published in Brain (London, England : 1878) (01.04.2019)
Published in Brain (London, England : 1878) (01.04.2019)
Get full text
Journal Article
Loading…
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
Minicocci, Ilenia, Santini, Sara, Cantisani, Vito, Stitziel, Nathan, Kathiresan, Sekar, Arroyo, Juan Antonio, Martí, Gertrudis, Pisciotta, Livia, Noto, Davide, Cefalù, Angelo B., Maranghi, Marianna, Labbadia, Giancarlo, Pigna, Giovanni, Pannozzo, Fabio, Ceci, Fabrizio, Ciociola, Ester, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Arca, Marcello
Published in Journal of lipid research (01.12.2013)
Published in Journal of lipid research (01.12.2013)
Get full text
Journal Article
Loading…
Genotype–phenotype associations among panel-based TP53+ subjects
Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
Get full text
Journal Article
Loading…
Cutting Edge: Heterozygote Advantage in Autoimmune Disease: Hierarchy of Protection/Susceptibility Conferred by HLA and Killer Ig-Like Receptor Combinations in Psoriatic Arthritis
Nelson, George W, Martin, Maureen P, Gladman, Dafna, Wade, Judith, Trowsdale, John, Carrington, Mary
Published in The Journal of immunology (1950) (01.10.2004)
Published in The Journal of immunology (1950) (01.10.2004)
Get full text
Journal Article