Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum
Tucker, Elena J, Grover, Sonia R, Bachelot, Anne, Touraine, Philippe, Sinclair, Andrew H
Published in Endocrine reviews (01.12.2016)
Published in Endocrine reviews (01.12.2016)
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Journal Article
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Thorburn, David R, Mootha, Vamsi K, Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J
Published in Nature genetics (01.10.2010)
Published in Nature genetics (01.10.2010)
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Journal Article
Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.
Published in Cell metabolism (07.09.2011)
Published in Cell metabolism (07.09.2011)
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Journal Article
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Lim, Sze Chern, Friemel, Martin, Marum, Justine E, Tucker, Elena J, Bruno, Damien L, Riley, Lisa G, Christodoulou, John, Kirk, Edwin P, Boneh, Avihu, DeGennaro, Christine M, Springer, Michael, Mootha, Vamsi K, Rouault, Tracey A, Leimkühler, Silke, Thorburn, David R, Compton, Alison G
Published in Human molecular genetics (15.11.2013)
Published in Human molecular genetics (15.11.2013)
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Journal Article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.
Published in Human genetics (01.07.2023)
Published in Human genetics (01.07.2023)
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Journal Article
Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review
Stenta, Tayla, Assis, Michael, Ayers, Katie, Tucker, Elena J., Halman, Andreas, Gook, Debra, Sinclair, Andrew H., Elliott, David A., Jayasinghe, Yasmin, Conyers, Rachel
Published in Clinical and translational science (01.06.2024)
Published in Clinical and translational science (01.06.2024)
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Journal Article
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
SWALWELL, Helen, KIRBY, Denise M, TURNBULL, Douglass M, MCFARLAND, Robert, TAYLOR, Robert W, THORBURN, David R, BLAKELY, Emma L, MITCHELL, Anna, SALEMI, Renato, SUGIANA, Canny, COMPTON, Alison G, TUCKER, Elena J, KE, Bi-Xia, LAMONT, Phillipa J
Published in European journal of human genetics : EJHG (01.07.2011)
Published in European journal of human genetics : EJHG (01.07.2011)
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Journal Article
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
Tucker, Elena J, Wanschers, Bas F J, Szklarczyk, Radek, Mountford, Hayley S, Wijeyeratne, Xiaonan W, van den Brand, Mariël A M, Leenders, Anne M, Rodenburg, Richard J, Reljić, Boris, Compton, Alison G, Frazier, Ann E, Bruno, Damien L, Christodoulou, John, Endo, Hitoshi, Ryan, Michael T, Nijtmans, Leo G, Huynen, Martijn A, Thorburn, David R
Published in PLoS genetics (2013)
Published in PLoS genetics (2013)
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Journal Article
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1
McKenzie, Matthew, Tucker, Elena J., Compton, Alison G., Lazarou, Michael, George, Christa, Thorburn, David R., Ryan, Michael T.
Published in Journal of molecular biology (02.12.2011)
Published in Journal of molecular biology (02.12.2011)
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Journal Article
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency
Jaillard, Sylvie, Tucker, Elena J, Akloul, Linda, Beaumont, Marion, Domin, Mathilde, Pasquier, Laurent, Jouve, Guilhem, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Ravel, Célia
Published in Journal of human genetics (01.05.2018)
Published in Journal of human genetics (01.05.2018)
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Journal Article
HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation
de Oliveira, Vanessa Cristina, Santos Roballo, Kelly Cristine, Mariano Junior, Clésio Gomes, Santos, Sarah Ingrid Pinto, Bressan, Fabiana Fernandes, Chiaratti, Marcos Roberto, Tucker, Elena J, Davis, Erica E, Concordet, Jean-Paul, Ambrósio, Carlos Eduardo
Published in Life (Basel, Switzerland) (24.12.2021)
Published in Life (Basel, Switzerland) (24.12.2021)
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Journal Article
Genomic testing in premature ovarian insufficiency: proceed with caution
Tucker, Elena J., Tan, Tiong Y., Stark, Zornitza, Sinclair, Andrew H.
Published in Biology of reproduction (01.11.2022)
Published in Biology of reproduction (01.11.2022)
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Journal Article
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, Sarah E, Compton, Alison G, Hershman, Steven G, Lim, Sze Chern, Lieber, Daniel S, Tucker, Elena J, Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B, Christodoulou, John, Fletcher, Janice M, Bruno, Damien L, Goldblatt, Jack, Dimauro, Salvatore, Thorburn, David R, Mootha, Vamsi K
Published in Science translational medicine (25.01.2012)
Published in Science translational medicine (25.01.2012)
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Journal Article
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice
Tucker, Elena J, Grover, Sonia R, Robevska, Gorjana, van den Bergen, Jocelyn, Hanna, Chloe, Sinclair, Andrew H
Published in European journal of human genetics : EJHG (01.09.2018)
Published in European journal of human genetics : EJHG (01.09.2018)
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Journal Article
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Desai, Radha, Frazier, Ann E, Durigon, Romina, Patel, Harshil, Jones, Aleck W, Dalla Rosa, Ilaria, Lake, Nicole J, Compton, Alison G, Mountford, Hayley S, Tucker, Elena J, Mitchell, Alice L R, Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P, Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M, Ian Andrews, P, Smeitink, Jan, Spelbrink, Johannes N, Heales, Simon J, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J, Thorburn, David R, Spinazzola, Antonella
Published in Brain (London, England : 1878) (01.06.2017)
Published in Brain (London, England : 1878) (01.06.2017)
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Journal Article
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development
Sreenivasan, Rajini, Bell, Katrina, van den Bergen, Jocelyn, Robevska, Gorjana, Belluoccio, Daniele, Dahiya, Rachana, Leong, Gary M., Dulon, Jérôme, Touraine, Philippe, Tucker, Elena J., Ayers, Katie, Sinclair, Andrew
Published in Molecular and cellular endocrinology (15.04.2022)
Published in Molecular and cellular endocrinology (15.04.2022)
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Journal Article
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Neyroud, Anne Sophie, Rudinger-Thirion, Joëlle, Frugier, Magali, Riley, Lisa G, Bidet, Maud, Akloul, Linda, Simpson, Andrea, Gilot, David, Christodoulou, John, Ravel, Célia, Sinclair, Andrew H, Belaud-Rotureau, Marc-Antoine, Tucker, Elena J, Jaillard, Sylvie
Published in European journal of human genetics : EJHG (01.04.2023)
Published in European journal of human genetics : EJHG (01.04.2023)
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Journal Article
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Ullah, Farid, Rauf, Waqar, Khan, Kamal, Khan, Sheraz, Bell, Katrina M., de Oliveira, Vanessa Cristina, Tariq, Muhammad, Bakhshalizadeh, Shabnam, Touraine, Philippe, Katsanis, Nicholas, Sinclair, Andrew, He, Sijie, Tucker, Elena J., Baig, Shahid M., Davis, Erica E.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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