Hasil Pencarian - John C. Achermann

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  1. 1
    Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond

    Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond oleh John C. Achermann

    Diterbitkan 2024-02-01
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  2. 2
    Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 1 approved, 2 approved with reservations]

    Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 1 approved, 2 approved with reserva... oleh Federica Buonocore, Monika Balys, Glenn Anderson, John C. Achermann

    Diterbitkan 2024-02-01
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  3. 3
    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant oleh Federica Buonocore, Sinead M. McGlacken-Byrne, Ignacio del Valle, John C. Achermann

    Diterbitkan 2020-12-01
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  4. 4
    Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

    Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report oleh Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise A. Metherell

    Diterbitkan 2022-03-01
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  5. 5
    Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.

    Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. oleh Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C Achermann

    Diterbitkan 2011-01-01
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  6. 6
    Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

    Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency oleh Ashwini Maudhoo, Avinaash Maharaj, Federica Buonocore, Gabriel Angel Martos-Moreno, Jesús Argente, John C Achermann, Li F Chan, Lou A Metherell

    Diterbitkan 2021-09-01
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  7. 7
    Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved]

    Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved] oleh Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann

    Diterbitkan 2019-01-01
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  8. 8
    Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

    Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome oleh Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore

    Diterbitkan 2022-08-01
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  9. 9
    A genomic atlas of human adrenal and gonad development [version 1; referees: 2 approved]

    A genomic atlas of human adrenal and gonad development [version 1; referees: 2 approved] oleh Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann

    Diterbitkan 2017-04-01
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  10. 10
    A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved]

    A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved] oleh Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann

    Diterbitkan 2017-10-01
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  11. 11
    Analysis of genetic variability in Turner syndrome linked to long-term clinical features

    Analysis of genetic variability in Turner syndrome linked to long-term clinical features oleh Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M. McGlacken-Byrne, Federica Buonocore, Ignacio del Valle, Gaganjit Kaur Madhan, Tony Brooks, Gerard S. Conway, John C. Achermann

    Diterbitkan 2023-09-01
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  12. 12
    A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

    A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review oleh Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad

    Diterbitkan 2022-07-01
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  13. 13
    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination oleh Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey

    Diterbitkan 2024-03-01
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  14. 14
    An integrated single-cell analysis of human adrenal cortex development

    An integrated single-cell analysis of human adrenal cortex development oleh Ignacio del Valle, Matthew D. Young, Gerda Kildisiute, Olumide K. Ogunbiyi, Federica Buonocore, Ian C. Simcock, Eleonora Khabirova, Berta Crespo, Nadjeda Moreno, Tony Brooks, Paola Niola, Katherine Swarbrick, Jenifer P. Suntharalingham, Sinead M. McGlacken-Byrne, Owen J. Arthurs, Sam Behjati, John C. Achermann

    Diterbitkan 2023-07-01
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  15. 15
    Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

    Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 oleh Victor B. Pastor, Sushree S. Sahoo, Jessica Boklan, Georg C. Schwabe, Ebru Saribeyoglu, Brigitte Strahm, Dirk Lebrecht, Matthias Voss, Yenan T. Bryceson, Miriam Erlacher, Gerhard Ehninger, Marena Niewisch, Brigitte Schlegelberger, Irith Baumann, John C. Achermann, Akiko Shimamura, Jochen Hochrein, Ulf Tedgård, Lars Nilsson, Henrik Hasle, Melanie Boerries, Hauke Busch, Charlotte M. Niemeyer, Marcin W. Wlodarski

    Diterbitkan 2018-03-01
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  16. 16
    Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

    Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency oleh Sinéad M. McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, GOSgene, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann

    Diterbitkan 2022-03-01
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  17. 17
    Characterisation and validation of insertions and deletions in 173 patient exomes.

    Characterisation and validation of insertions and deletions in 173 patient exomes. oleh Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka

    Diterbitkan 2012-01-01
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  18. 18
    Single cell derived mRNA signals across human kidney tumors

    Single cell derived mRNA signals across human kidney tumors oleh Matthew D. Young, Thomas J. Mitchell, Lars Custers, Thanasis Margaritis, Francisco Morales-Rodriguez, Kwasi Kwakwa, Eleonora Khabirova, Gerda Kildisiute, Thomas R. W. Oliver, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Federico Comitani, Alice Piapi, Eva Bugallo-Blanco, Christine Thevanesan, Christina Burke, Elena Prigmore, Kirsty Ambridge, Kenny Roberts, Felipe A. Vieira Braga, Tim H. H. Coorens, Ignacio Del Valle, Anna Wilbrey-Clark, Lira Mamanova, Grant D. Stewart, Vincent J. Gnanapragasam, Dyanne Rampling, Neil Sebire, Nicholas Coleman, Liz Hook, Anne Warren, Muzlifah Haniffa, Marcel Kool, Stefan M. Pfister, John C. Achermann, Xiaoling He, Roger A. Barker, Adam Shlien, Omer A. Bayraktar, Sarah A. Teichmann, Frank C. Holstege, Kerstin B. Meyer, Jarno Drost, Karin Straathof, Sam Behjati

    Diterbitkan 2021-06-01
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