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John C Achermann

Showing results (31-40 of 108) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|September 14, 2006
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermiaLin Lin, Gerard S Conway, Nathan R Hill, et al.
The Journal of Clinical Endocrinology and Metabolism|April 5, 2002
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent mannerJohn C Achermann, Gokhan Ozisik, Masafumi Ito, et al.
Human Reproduction (Oxford, England)|October 18, 2007
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative studyPascal Philibert, Delphine Zenaty, Lin Lin, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 18, 2010
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal glandBruno Ferraz-de-Souza, Lin Lin, Sonia Shah, et al.
Plos One|February 8, 2011
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signalingSara Tomaselli, Francesca Megiorni, Lin Lin, et al.
Pituitary|July 26, 2017
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single centerNikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
We used to call them hermaphroditesEric Vilain, John C Achermann, Erica A Eugster, et al.
The Journal of Clinical Endocrinology and Metabolism|January 10, 2003
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenitaGokhan Ozisik, Giovanna Mantovani, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|May 11, 2006
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experienceLin Lin, Wen-Xia Gu, Gokhan Ozisik, et al.
The Journal of Clinical Endocrinology and Metabolism|September 14, 2006
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitaliaBo Yang Baker, Lin Lin, Chan Jong Kim, et al.
Pageof 11

Showing results (31-40 of 108) with videos related to

Sort By:
Pageof 11
The Journal of Clinical Endocrinology and Metabolism|September 14, 2006
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermiaLin Lin, Gerard S Conway, Nathan R Hill, et al.
The Journal of Clinical Endocrinology and Metabolism|April 5, 2002
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent mannerJohn C Achermann, Gokhan Ozisik, Masafumi Ito, et al.
Human Reproduction (Oxford, England)|October 18, 2007
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative studyPascal Philibert, Delphine Zenaty, Lin Lin, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 18, 2010
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal glandBruno Ferraz-de-Souza, Lin Lin, Sonia Shah, et al.
Plos One|February 8, 2011
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signalingSara Tomaselli, Francesca Megiorni, Lin Lin, et al.
Pituitary|July 26, 2017
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single centerNikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
We used to call them hermaphroditesEric Vilain, John C Achermann, Erica A Eugster, et al.
The Journal of Clinical Endocrinology and Metabolism|January 10, 2003
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenitaGokhan Ozisik, Giovanna Mantovani, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|May 11, 2006
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experienceLin Lin, Wen-Xia Gu, Gokhan Ozisik, et al.
The Journal of Clinical Endocrinology and Metabolism|September 14, 2006
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitaliaBo Yang Baker, Lin Lin, Chan Jong Kim, et al.
Pageof 11