Search Results - John C. Achermann

Refine Results
  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 by Lucy Lin, John C. Achermann

    Published 2008
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Primary adrenal insufficiency: New genetic causes and their long‐term consequences

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

    Published 2019
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Steroidogenic Factor-1 and Human Disease

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

    Published 2012
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Masafumi Ito, John C. Achermann, J. Larry Jameson

    Published 2000
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Steroidogenic factor-1 (SF-1, NR5A1) and human disease

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

    Published 2010
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Jenifer P. Suntharalingham, Federica Buonocore, Andrew Duncan, John C. Achermann

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  7. 7
    Mitochondrial disease and endocrine dysfunction

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

    Published 2016
    Get full text
    Revisão
    Save to List
    Saved in:
  8. 8
    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

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

    Published 2020
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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> by Stephanie B. Seminara, John C. Achermann, Myron Genel, J. Larry Jameson, William F. Crowley

    Published 1999
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Lin Lin, Gerard S. Conway, Nathan R. Hill, Mehul Dattani, Peter C. Hindmarsh, John C. Achermann

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Lin Lin, Wen-Xia Gu, Gökhan Özışık, Wing S. To, Catherine Owen, J. Larry Jameson, John C. Achermann

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Marie‐Klaire Farrugia, Neil J. Sebire, John C. Achermann, A. Eisawi, P.G. Duffy, Imran Mushtaq

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  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) by Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano, Joanna Walker, John C. Achermann, Walter L. Miller

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Pascal Philibert, Delphine Zénaty, Lin Lin, S. Soskin, Françoise Audran, Juliane Léger, John C. Achermann, C. Sultan

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by John C. Achermann, Gökhan Özışık, Masafumi Ito, Utku Arman Örün, Koray Harmancı, Berkan Gürakan, J. Larry Jameson

    Published 2002
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Holistic management of DSD

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

    Published 2010
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Bo Y. Baker, Lin Lin, Chan Jong Kim, Jamal Raza, Claire Smith, Walter L. Miller, John C. Achermann

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans

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

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Gökhan Özışık, Giovanna Mantovani, John C. Achermann, Luca Persani, Anna Spada, Jeffrey Weiss, Paolo Beck‐Peccoz, J. Larry Jameson

    Published 2003
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: