检索结果 - John C. Achermann

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  1. 1
    Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and Disorders of Testis Development

    Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and Disorders of Testis Development 由 Lucy Lin, John C. Achermann

    出版 2008
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  2. 2
    Primary adrenal insufficiency: New genetic causes and their long‐term consequences

    Primary adrenal insufficiency: New genetic causes and their long‐term consequences 由 Federica Buonocore, John C. Achermann

    出版 2019
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  3. 3
    Steroidogenic Factor-1 and Human Disease

    Steroidogenic Factor-1 and Human Disease 由 Ranna El‐Khairi, John C. Achermann

    出版 2012
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  4. 4
    A Naturally Occurring Steroidogenic Factor-1 Mutation Exhibits Differential Binding and Activation of Target Genes

    A Naturally Occurring Steroidogenic Factor-1 Mutation Exhibits Differential Binding and Activation of Target Genes 由 Masafumi Ito, John C. Achermann, J. Larry Jameson

    出版 2000
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  5. 5
    Steroidogenic factor-1 (SF-1, NR5A1) and human disease

    Steroidogenic factor-1 (SF-1, NR5A1) and human disease 由 Bruno Ferraz‐de‐Souza, Lin Lin, John C. Achermann

    出版 2010
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  6. 6
    DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

    DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease 由 Jenifer P. Suntharalingham, Federica Buonocore, Andrew Duncan, John C. Achermann

    出版 2015
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  7. 7
    Mitochondrial disease and endocrine dysfunction

    Mitochondrial disease and endocrine dysfunction 由 Jasmine Chow, Joyeeta Rahman, John C. Achermann, Mehul Dattani, Shamima Rahman

    出版 2016
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  8. 8
    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

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

    出版 2020
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  9. 9
    X-Linked Adrenal Hypoplasia Congenita: A Mutation in<i>DAX1</i>Expands the Phenotypic Spectrum in Males and Females<sup>1</sup>

    X-Linked Adrenal Hypoplasia Congenita: A Mutation in<i>DAX1</i>Expands the Phenotypic Spectrum in Males and Females<sup>1</sup> 由 Stephanie B. Seminara, John C. Achermann, Myron Genel, J. Larry Jameson, William F. Crowley

    出版 1999
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  10. 10
    A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia

    A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia 由 Lin Lin, Gerard S. Conway, Nathan R. Hill, Mehul Dattani, Peter C. Hindmarsh, John C. Achermann

    出版 2006
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  11. 11
    Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

    Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience 由 Lin Lin, Wen-Xia Gu, Gökhan Özışık, Wing S. To, Catherine Owen, J. Larry Jameson, John C. Achermann

    出版 2006
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  12. 12
    Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies

    Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies 由 Marie‐Klaire Farrugia, Neil J. Sebire, John C. Achermann, A. Eisawi, P.G. Duffy, Imran Mushtaq

    出版 2012
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  13. 13
    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) 由 Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano, Joanna Walker, John C. Achermann, Walter L. Miller

    出版 2010
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  14. 14
    Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

    Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study 由 Pascal Philibert, Delphine Zénaty, Lin Lin, S. Soskin, Françoise Audran, Juliane Léger, John C. Achermann, C. Sultan

    出版 2007
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  15. 15
    Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

    Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner 由 John C. Achermann, Gökhan Özışık, Masafumi Ito, Utku Arman Örün, Koray Harmancı, Berkan Gürakan, J. Larry Jameson

    出版 2002
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  16. 16
    Holistic management of DSD

    Holistic management of DSD 由 Caroline Brain, Sarah Creighton, Imran Mushtaq, Polly Carmichael, Angela Barnicoat, John W. Honour, Victor Larcher, John C. Achermann

    出版 2010
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  17. 17
    Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

    Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia 由 Bo Y. Baker, Lin Lin, Chan Jong Kim, Jamal Raza, Claire Smith, Walter L. Miller, John C. Achermann

    出版 2006
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  18. 18
    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 由 Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    出版 2011
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  19. 19
    Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans

    Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans 由 Lin Lin, Oya Ercan, Jamal Raza, Christine Burren, Sarah Creighton, Richard J. Auchus, Mehul Dattani, John C. Achermann

    出版 2006
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  20. 20
    An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita

    An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita 由 Gökhan Özışık, Giovanna Mantovani, John C. Achermann, Luca Persani, Anna Spada, Jeffrey Weiss, Paolo Beck‐Peccoz, J. Larry Jameson

    出版 2003
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