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1

Primary adrenal insufficiency: New genetic causes and their long‐term consequences

Buonocore, Federica, Achermann, John C

Journal:

Clinical Endocrinology

Year:

2019

Language:

english

File:

PDF, 11.98 MB

english, 2019

2

Holistic management of DSD

Caroline E. Brain, Sarah M. Creighton, Imran Mushtaq, Polly A. Carmichael, Angela Barnicoat, John W. Honour, Victor Larcher, John C. Achermann

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

3

Birth Weight Influences the Initial Response to Growth Hormone Treatment in Growth Hormone-insufficient Children

Achermann, John C., Hamdani, Karima, Hindmarsh, Peter C., Brook, Charles G. D.

Journal:

Year:

1998

Language:

english

File:

PDF, 303 KB

english, 1998

4

Mitochondrial disease and endocrine dysfunction

Chow, Jasmine, Rahman, Joyeeta, Achermann, John C., Dattani, Mehul T., Rahman, Shamima

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2016

Language:

english

File:

PDF, 1.80 MB

english, 2016

5

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

Tomaselli, Sara, Megiorni, Francesca, Lin, Lin, Mazzilli, Maria Cristina, Gerrelli, Dianne, Majore, Silvia, Grammatico, Paola, Achermann, John C., Lee, Sean

Journal:

Year:

2011

Language:

english

File:

PDF, 1.47 MB

english, 2011

6

Puberty, stress, and sudden death

Metin Guclu, Lin Lin, Erdinc Erturk, John C Achermann, Hakan Cangul

Journal:

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

7

Inherited adrenal hypoplasia: not just for kids!

Lin Lin, John C. Achermann

Journal:

Clinical Endocrinology

Year:

2004

Language:

english

File:

PDF, 206 KB

english, 2004

8

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1

John C. Achermann, Bernard L. Silverman, Reema L. Habiby, J.Larry Jameson

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

9

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

Lin, Lin, Gu, Wen-Xia, Ozisik, Gokhan, To, Wing S., Owen, Catherine J., Jameson, J. Larry, Achermann, John C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 281 KB

english, 2006

10

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

Sahakitrungruang, Taninee, Soccio, Raymond E., Lang-Muritano, Mariarosaria, Walker, Joanna M., Achermann, John C., Miller, Walter L.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 152 KB

english, 2010

11

Encyclopedia of Life Sciences || Gonadotropin Hormones: Disorders

Achermann, John C

Year:

2001

Language:

english

File:

PDF, 243 KB

english, 2001

12

The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight

Raja Padidela, Sinead M. Bryan, Sayeda Abu-Amero, Rebecca E. Hudson-Davies, John C. Achermann, Gudrun E. Moore, Peter C. Hindmarsh

Journal:

Clinical Endocrinology

Year:

2012

Language:

english

File:

PDF, 86 KB

english, 2012

13

Órganos genitales ambiguos

Achermann, John C., Eugster, Erica A., Shulman, Dorothy I.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

spanish

File:

PDF, 48 KB

spanish, 2011

14

Steroidogenic Factor-1 and Human Disease

El-Khairi, Ranna, Achermann, John

Journal:

Seminars in Reproductive Medicine

Year:

2012

Language:

english

File:

PDF, 240 KB

english, 2012

15

Naturally-Occurring Mutations in Steroidogenic Factor-1 (Sf-1) Provide Insight into Dose-Dependent Regulation of Gene Transcription by Monomeric Orphan Nuclear Receptors

Achermann, John C, Ozisik, Gokhan, Ito, Masafumi, Orun, Utku A, Hindmarsh, Peter C, Jameson, J Larry

Journal:

Clinical Science

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

16

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C. Achermann

Journal:

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

17

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency

Ranna El-Khairi, Rahul Parnaik, Andrew J. Duncan, Lin Lin, Dianne Gerrelli, Mehul T. Dattani, Gerard S. Conway, John C. Achermann

Journal:

Molecular and Cellular Endocrinology

Year:

2012

Language:

english

File:

PDF, 751 KB

english, 2012

18

The Role of DAX-1 in Reproduction

Richard N Yu, John C Achermann, Masafumi Ito, J.Larry Jameson

Journal:

Trends in Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 250 KB

english, 1998

19

10.1038/9629

Jameson, J. Larry, Achermann, John C., Ito, Masafumi, Ito, Mika, Hindmarsh, Peter C.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

20

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

Baker, Bo Y., Lin, Lin, Kim, Chan J., Raza, Jamal, Smith, Claire P., Miller, Walter L., Achermann, John C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

21

Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit

Katugampola, Harshini, King, Peter J, Chatterjee, Sumana, Meso, Muriel, Duncan, Andrew J, Achermann, John C, Guasti, Leo, Ghataore, Lea, Taylor, Norman F, Allen, Rebecca, Marlene, Shemoon, Aquilina, J

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 1.52 MB

english, 2017

22

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Buonocore, Federica, McGlacken-Byrne, Sinead M., del Valle, Ignacio, Achermann, John C.

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 694 KB

2020

23

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

Achermann, John C., Ozisik, Gokhan, Ito, Masafumi, Orun, Utku A., Harmanci, Koray, Gurakan, Berkan, Jameson, J. Larry

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 246 KB

english, 2002

24

Homozygous Disruption of P450 Side-Chain Cleavage ( CYP11A1 ) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure

Hiort, Olaf, Holterhus, Paul-Martin, Werner, Ralf, Marschke, Christine, Hoppe, Ute, Partsch, Carl-Joachim, Riepe, Felix G., Achermann, John C., Struve, Dagmar

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

25

Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes

McElreavey, Kenneth, Achermann, John C.

Journal:

Hormone Research in Paediatrics

Year:

2017

Language:

english

File:

PDF, 101 KB

english, 2017

26

Inherited disorders of the gonadotropin hormones

John C Achermann, Jeffrey Weiss, Eun-Jig Lee, J.Larry Jameson

Journal:

Molecular and Cellular Endocrinology

Year:

2001

Language:

english

File:

PDF, 220 KB

english, 2001

27

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam H. Balen, Gerry Conway, Zoe L. Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet L. Miles, Stuart O’Toole, Les Perry, Caroli

Journal:

Clinical Endocrinology

Year:

2011

Language:

english

File:

PDF, 321 KB

english, 2011

28

IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Janna E. Hutz, Andrea S. Krause, John C. Achermann, Eric Vilain, Maïthé Tauber, Claudine Lecointre, Edward R.B. McCabe, Gary D. Hammer, Catherine E. Keegan

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 233 KB

english, 2006

29

Dehydroepiandrosterone replacement for patients with adrenal insufficiency

John C Achermann, Bernard L Silverman

Journal:

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

30

X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1 Expands the Phenotypic Spectrum in Males and Females 1

Seminara, Stephanie B., Achermann, John C., Genel, Myron, Jameson, J. Larry, Crowley, William F.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 1.36 MB

english, 1999

31

Fertility and Infertility: Genetic Contributions from the Hypothalamic-Pituitary- Gonadal Axis

Achermann, John C., Jameson, J. Larry

Journal:

Molecular Endocrinology

Year:

1999

Language:

english

File:

PDF, 529 KB

english, 1999

32

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

Lin Lin, Peter C. Hindmarsh, Louise A. Metherell, Mahmoud Alzyoud, Maryam Al-Ali, Caroline E. Brain, Adrian J. L. Clark, Mehul T. Dattani, John C. Achermann

Journal:

Clinical Endocrinology

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

33

Single-exciton optical gain in semiconductor nanocrystals

Klimov, Victor I., Ivanov, Sergei A., Nanda, Jagjit, Achermann, Marc, Bezel, Ilya, McGuire, John A., Piryatinski, Andrei

Journal:

Year:

2007

Language:

english

File:

PDF, 636 KB

english, 2007

34

We used to call them hermaphrodites

Vilain, Eric, Achermann, John C, Eugster, Erica A, Harley, Vincent R, Morel, Yves, Wilson, Jean D, Hiort, Olaf

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

35

X-Linked Adrenal Hypoplasia Congenita and DAX-1

Achermann, John C., Meeks, Joshua J., Jameson, Larry J.

Journal:

The Endocrinologist

Year:

2000

File:

PDF, 5.20 MB

2000

36

Human sex development: targeted technologies to improve diagnosis

Buonocore, Federica, Achermann, John C.

Journal:

Year:

2016

Language:

english

File:

PDF, 409 KB

english, 2016

37

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal

Ferraz-de-Souza, Bruno, Hudson-Davies, Rebecca E., Lin, Lin, Parnaik, Rahul, Hubank, Mike, Dattani, Mehul T., Achermann, John C.

Journal:

Molecular Endocrinology

Year:

2011

File:

PDF, 55 KB

2011

38

Mutations in NR5A1 Associated with Ovarian Insufficiency

Lourenço, Diana, Brauner, Raja, Lin, Lin, De Perdigo, Arantzazu, Weryha, Georges, Muresan, Mihaela, Boudjenah, Radia, Guerra-Junior, Gil, Maciel-Guerra, Andréa T., Achermann, John C., McElreavey, Ken,

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 806 KB

english, 2009

39

Genetic Causes of Human Reproductive Disease

Achermann, John C., Ozisik, Gokhan, Meeks, Joshua J., Jameson, J. Larry

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 164 KB

english, 2002

40

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

Ozisik, Gokhan, Mantovani, Giovanna, Achermann, John C., Persani, Luca, Spada, Anna, Weiss, Jeffrey, Beck-Peccoz, Paolo, Jameson, J. Larry

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2003

Language:

english

File:

PDF, 359 KB

english, 2003

41

Accelerated, aging-dependent development of osteoarthritis in α1 integrin–deficient mice

Michihisa Zemmyo, E. John Meharra, Klaus Kühn, Lilo Creighton-Achermann, Martin Lotz

Journal:

Arthritis & Rheumatism

Year:

2003

Language:

english

File:

PDF, 450 KB

english, 2003

42

The relationship between the growth hormone and insulin-like growth factor axis in long-term survivors of childhood brain tumours

John C. Achermann, Peter C. Hindmarsh, Charles G. D. Brook

Journal:

Clinical Endocrinology

Year:

1998

Language:

english

File:

PDF, 188 KB

english, 1998

43

The “Glucose Pentagon”: Assessing Glycemic Control of Patients with Diabetes Mellitus by a Model Integrating Different Parameters from Glucose Profiles

Schönauer, Martin, Achermann, Frank, Schnell, Oliver, Thomas, Andreas, Hanefeld, Markolf, Ziegelasch, Hans-Jürgen, Mastrototaro, John, Heinemann, Lutz

Journal:

Diabetes Technology & Therapeutics

Year:

2009

Language:

english

File:

PDF, 485 KB

english, 2009

44

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal

Ferraz-de-Souza, Bruno, Hudson-Davies, Rebecca E., Lin, Lin, Parnaik, Rahul, Hubank, Mike, Dattani, Mehul T., Achermann, John C.

Journal:

Endocrine Reviews

Year:

2011

File:

PDF, 60 KB

2011

45

Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita 1

Reutens, Anne T., Achermann, John C., Ito, Masafumi, Ito, Mika, Gu, Wen-Xia, Habiby, Reema L., Donohoue, Patricia A., Pang, Songya, Hindmarsh, Peter C., Jameson, J. Larry

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 346 KB

english, 1999

46

Variable Presentation of X-linked Adrenal Hypoplasia Congenita

Wiltshire, Esko, Couper, J. Jennifer, Rodda, Christine, Jameson, J. Larry, Achermann, John C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2001

Language:

english

File:

PDF, 307 KB

english, 2001

47

Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

John C. Achermann, Joshua J. Meeks, Baxter Jeffs, Urmi Das, Peter E. Clayton, Charles G.D. Brook, J.Larry Jameson

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 173 KB

english, 2001

48

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

Wu, Joyce Y., McGown, Ivan N., Lin, Lin, Achermann, John C., Harris, Mark, Cowley, David M., Aftimos, Salim, Neville, Kristen A., Choong, Catherine S., Cotterill, Andrew M.

Journal:

Clinical Endocrinology

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

49

Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression 1

Achermann, John C., Ito, Masafumi, Silverman, Bernard L., Habiby, Reema L., Pang, Songya, Rosler, Ariel, Jameson, J. Larry

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 279 KB

english, 2001

50

The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans

Gokhan Ozisik, John C. Achermann, J.Larry Jameson

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 215 KB

english, 2002

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