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1

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

2

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

3

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

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

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

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

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

19

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

Bruno Ferraz-de-Souza, Lin Lin, John C. Achermann

Journal:

Molecular and Cellular Endocrinology

Year:

2011

Language:

english

File:

PDF, 874 KB

english, 2011

20

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

21

Dehydroepiandrosterone replacement for patients with adrenal insufficiency

John C Achermann, Bernard L Silverman

Journal:

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

22

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

23

Phenotypic spectrum of mutations in DAX-1 and SF-1

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

Journal:

Molecular and Cellular Endocrinology

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

24

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

25

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

26

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

27

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

28

Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty

Enver Simsek, Ismail Ozdemir, Lin Lin, John C. Achermann

Journal:

Fertility and Sterility

Year:

2005

Language:

english

File:

PDF, 162 KB

english, 2005

29

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

30

SF1 in the Development of the Adrenal Gland and Gonads

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

Journal:

Hormone Research

Year:

2003

Language:

english

File:

PDF, 130 KB

english, 2003

31

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

32

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

33

Genetic Steroid Disorders || Contributors

Achermann, John C.

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014

34

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia

Flück, Christa E., Maret, Alexander, Mallet, Delphine, Portrat-Doyen, Stéphanie, Achermann, John C., Leheup, Bruno, Theintz, Gérald E., Mullis, Primus E., Morel, Yves

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 402 KB

english, 2005

35

Disorders of sex development: effect of molecular diagnostics

Achermann, John C., Domenice, Sorahia, Bachega, Tania A. S. S., Nishi, Mirian Y., Mendonca, Berenice B.

Journal:

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

Year:

2015

Language:

english

File:

PDF, 238 KB

english, 2015

36

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

Lin, Lin, Conway, Gerard S., Hill, Nathan R., Dattani, Mehul T., Hindmarsh, Peter C., Achermann, John C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

37

The Adrenal

Lin, Lin, Achermann, John C.

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 213 KB

english, 2004

38

A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

Ahmad, Imran, Paterson, Wendy F., Lin, Lin, Adlard, Peter, Duncan, Philippa, Tolmie, John, Achermann, John C., Donaldson, Malcolm D.C.

Journal:

Hormone Research

Year:

2007

Language:

english

File:

PDF, 144 KB

english, 2007

39

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:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 848 KB

english, 2011

40

Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc

Kim, Chan Jong, Lin, Lin, Huang, Ningwu, Quigley, Charmian A., AvRuskin, Theodore W., Achermann, John C., Miller, Walter L.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

41

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Suntharalingham, Jenifer P., Buonocore, Federica, Duncan, Andrew J., Achermann, John C.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 794 KB

english, 2015

42

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

43

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

44

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

45

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

46

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

47

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

48

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

49

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

50

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