Browse by UCL people
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Number of items: 97.
Article
Achermann, John C;
(2024)
Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond.
EBioMedicine
, 100
, Article 104984. 10.1016/j.ebiom.2024.104984.
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Achermann, JC;
Domenice, S;
Bachega, TASS;
Nishi, MY;
Mendonca, BB;
(2015)
Disorders of sex development: effect of molecular diagnostics.
Nature Reviews Endocrinology
, 11
(8)
pp. 478-488.
10.1038/nrendo.2015.69.
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Achermann, JC;
Eugster, EA;
Shulman, DI;
(2011)
Ambiguous genitalia.
The Journal of Clinical Endocrinology & Metabolism
, 96
(3)
33A - 34A.
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Achermann, JC;
Gu, WX;
Kotlar, TJ;
Meeks, JJ;
Sabacan, LP;
Seminara, SB;
Habiby, RL;
... Jameson, JL; + view all
(1999)
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
The Journal of Clinical Endocrinology & Metabolism
, 84
(12)
4497 - 4500.
10.1210/jc.84.12.4497.
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Achermann, JC;
Ito, M;
Silverman, BL;
Habiby, RL;
Pang, S;
Rosler, A;
Jameson, JL;
(2001)
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
The Journal of Clinical Endocrinology & Metabolism
, 86
(7)
3171 - 3175.
10.1210/jc.86.7.3171.
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Achermann, JC;
Ozisik, G;
Meeks, JJ;
Jameson, JL;
(2002)
Genetic causes of human reproductive disease.
The Journal of Clinical Endocrinology & Metabolism
, 87
(6)
2447 - 2454.
10.1210/jc.87.6.2447.
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Achermann, JC;
Schwabe, J;
Fairall, L;
Chatterjee, K;
(2017)
Genetic disorders of nuclear receptors.
Journal of Clinical Investigation
, 127
(4)
pp. 1181-1192.
10.1172/JCI88892.
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Ahmed, SF;
Achermann, JC;
Alderson, J;
Crouch, NS;
Elford, S;
Hughes, IA;
Krone, NP;
... Turner, HE; + view all
(2021)
Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021).
Clinical Endocrinology
, 95
(6)
pp. 818-840.
10.1111/cen.14528.
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Ahmed, SF;
Achermann, JC;
Arl, W;
Balen, AH;
Conway, G;
Edwards, ZL;
Elford, S;
... Willis, D; + view all
(2011)
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
Clinical Endocrinology
, 75
(1)
12 - 26.
10.1111/j.1365-2265.2011.04076.x.
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Ahmed, SF;
Achermann, JC;
Arlt, W;
Balen, A;
Conway, G;
Edwards, Z;
Elford, S;
... Willis, D; + view all
(2016)
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).
Clinical Endocrinology
, 84
(5)
pp. 771-788.
10.1111/cen.12857.
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Akin, L;
Rizzoti, K;
Gregory, LC;
Corredor, B;
Le Quesne Stabej, P;
Williams, H;
Buonocore, F;
... Dattani, MT; + view all
(2022)
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genetics in Medicine
, 24
(2)
pp. 384-397.
10.1016/j.gim.2021.09.019.
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Ali, Naseer;
Maharaj, Avinaash Vickram;
Buonocore, Federica;
Achermann, John C;
Metherell, Louise A;
(2022)
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Frontiers in Endocrinology
, 13
, Article 860055. 10.3389/fendo.2022.860055.
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Baker, BY;
Lin, L;
Kim, CJ;
Raza, J;
Smith, CP;
Miller, WL;
Achermann, JC;
(2006)
Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
The Journal of Clinical Endocrinology & Metabolism
, 91
(12)
4781 - 4785.
10.1210/jc.2006-1565.
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Bashamboo, A;
Donohoue, PA;
Vilain, E;
Rojo, S;
Calvel, P;
Seneviratne, SN;
Buonocore, F;
... Achermann, JC; + view all
(2016)
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Human Molecular Genetics
, 25
(16)
pp. 3446-3453.
10.1093/hmg/ddw186.
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Bashamboo, A;
Eozenou, C;
Jorgensen, A;
Bignon-Topalovic, J;
Siffroi, J-P;
Hyon, C;
Tar, A;
... McElreavey, K; + view all
(2018)
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
The American Journal of Human Genetics
, 102
(3)
pp. 487-493.
10.1016/j.ajhg.2018.01.021.
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Bashamboo, A;
Ferraz-de-Souza, B;
Lourenco, D;
Lin, L;
Sebire, NJ;
Montjean, D;
Bignon-Topalovic, J;
... McElreavey, K; + view all
(2010)
Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1.
The American Journal of Human Genetics
, 87
(4)
505 - 512.
10.1016/j.ajhg.2010.09.009.
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Brain, CE;
Creighton, SM;
Mushtaq, I;
Carmichael, PA;
Barnicoat, A;
Honour, JW;
Larcher, V;
(2010)
Holistic management of DSD.
Best Practice and Research Clinical Endocrinology and Metabolism
, 24
(2)
335 - 354.
10.1016/j.beem.2010.01.006.
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Brooke, AM;
Taylor, NF;
Shepherd, JH;
Gore, ME;
Ahmad, T;
Lin, L;
Rumsby, G;
... Monson, JP; + view all
(2006)
A novel point mutation in P450c17 (CYP17) causing combined 17 alpha-hydroxylase/17,20-lyase deficiency.
The Journal of Clinical Endocrinology & Metabolism
, 91
(6)
2428 - 2431.
10.1210/jc.2005-2653.
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Buonocore, Federica;
Suntharalingham, Jenifer P;
Ogunbiyi, Olumide K;
Jones, Aragorn;
Moreno, Nadjeda;
Niola, Paola;
Brooks, Tony;
... Achermann, John C; + view all
(2025)
Transcriptomic sex differences in early human fetal brain development.
Communications Biology
, 8
, Article 664. 10.1038/s42003-025-08070-3.
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Buonocore, F;
Achermann, JC;
(2020)
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
[Review].
Clinical Endocrinology
, 92
(1)
pp. 11-20.
10.1111/cen.14109.
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Buonocore, F;
Achermann, JC;
(2016)
Human sex development: targeted technologies to improve diagnosis.
Genome Biology
, 17
, Article 257. 10.1186/s13059-016-1128-4.
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Buonocore, F;
Clifford-Mobley, O;
King, TFJ;
Striglioni, N;
Man, E;
Suntharalingham, JP;
del Valle, I;
... Achermann, JC; + view all
(2019)
Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD.
Journal of the Endocrine Society
10.1210/js.2019-00306.
(In press).
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Buonocore, F;
Kühnen, P;
Suntharalingham, JP;
Del Valle, I;
Digweed, M;
Stachelscheid, H;
Khajavi, N;
... Achermann, JC; + view all
(2017)
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Journal of Clinical Investigation
, 127
(5)
pp. 1700-1713.
10.1172/JCI91913.
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Buonocore, F;
Maharaj, A;
Qamar, Y;
Koehler, K;
Suntharalingham, JP;
Chan, LF;
Ferraz-de-Souza, B;
... Achermann, JC; + view all
(2021)
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK.
Journal of the Endocrine Society
, 5
(8)
, Article bvab086. 10.1210/jendso/bvab086.
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Buonocore, F;
McGlacken-Byrne, SM;
Del Valle, I;
Achermann, JC;
(2020)
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.
Frontiers in Pediatrics
, 8
, Article 619041. 10.3389/fped.2020.619041.
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Cameron-Pimblett, Antoinette;
La Rosa, Clementina;
Davies, Melanie C;
Suntharalingham, Jenifer P;
Ishida, Miho;
Achermann, John C;
Conway, Gerard S;
(2024)
Characterization of Turner Syndrome-associated Diabetes Mellitus.
The Journal of Clinical Endocrinology & Metabolism
, Article dgae357. 10.1210/clinem/dgae357.
(In press).
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Cetinkaya, S;
Guran, T;
Kurnaz, E;
Keskin, M;
Sagsak, E;
Erdeve, SS;
Suntharalingham, JP;
... Aycan, Z; + view all
(2018)
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Journal of Clinical Research in Pediatric Endocrinology
, 10
(1)
pp. 68-73.
10.4274/jcrpe.4638.
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Chow, J;
Rahman, J;
Achermann, JC;
Dattani, MT;
Rahman, S;
(2017)
Mitochondrial disease and endocrine dysfunction.
Nature Reviews Endocrinology
, 13
(2)
pp. 92-104.
10.1038/nrendo.2016.151.
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Del Valle, Ignacio;
Young, Matthew D;
Kildisiute, Gerda;
Ogunbiyi, Olumide K;
Buonocore, Federica;
Simcock, Ian C;
Khabirova, Eleonora;
... Achermann, John C; + view all
(2023)
An integrated single-cell analysis of human adrenal cortex development.
JCI Insight
, 8
(14)
, Article e168177. 10.1172/jci.insight.168177.
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del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.2.
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Del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.1.
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Domenice, S;
Machado, AZ;
Ferreira, FM;
Ferraz-de-Souza, B;
Lerario, AM;
Lin, L;
Nishi, MY;
... Mendonca, BB; + view all
(2016)
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Birth Defects Research Part C-Embryo Today-Reviews
, 108
(4)
pp. 309-320.
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Dorosh, Olha;
Bodak, Khrystyna;
Tsymbalyuk-Voloshyn, Iryna;
Makukh, Halyna;
Kreminska, Olena;
Hrytsiuk, Ihor;
Battisti, Laura;
... Yoshimi, Ayami; + view all
(2024)
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
Pediatric Blood & Cancer
, 71
(11)
, Article e31294. 10.1002/pbc.31294.
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El-Khairi, R;
Parnaik, R;
Duncan, AJ;
Lin, L;
Gerrelli, D;
Dattani, MT;
Conway, GS;
(2012)
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
Molecular and Cellular Endocrinology
, 351
(2)
pp. 264-268.
10.1016/j.mce.2011.12.016.
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Ferraz-de-Souza, B;
Hudson-Davies, RE;
Lin, L;
Parnaik, R;
Hubank, M;
Dattani, MT;
Achermann, JC;
(2011)
Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal.
The Journal of Clinical Endocrinology & Metabolism
, 96
(4)
E663 - E668.
10.1210/jc.2010-2021.
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Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
[Review].
Molecular and Cellular Endocrinology
, 336
(1-2)
198 - 205.
10.1016/j.mce.2010.11.006.
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Ferraz-de-Souza, B;
Lin, L;
Shah, S;
Jina, N;
Hubank, M;
Dattani, MT;
Achermann, JC;
(2011)
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
The FASEB Journal
, 25
(4)
1166 - 1175.
10.1096/fj.10-170522.
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Ferraz-De-Souza, B;
Martin, F;
Mallet, D;
Hudson-Davies, RE;
Cogram, P;
Lin, L;
Gerrelli, D;
... Achermann, JC; + view all
(2009)
CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease.
The Journal of Clinical Endocrinology & Metabolism
, 94
(2)
678 - 683.
10.1210/jc.2008-1064.
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Fluck, CE;
Maret, A;
Mallet, D;
Portrat-Doyen, S;
Achermann, JC;
Leheup, B;
Theintz, GE;
... Morel, Y; + view all
(2005)
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia.
The Journal of Clinical Endocrinology & Metabolism
, 90
(9)
5304 - 5308.
10.1210/jc.2005-0874.
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Giri, D;
Bockenhauer, D;
Deshpande, C;
Achermann, JC;
Taylor, NF;
Rumsby, G;
Morgan, H;
... Ajzensztejn, M; + view all
(2020)
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Hormone Research in Paediatrics
10.1159/000507577.
(In press).
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Guran, T;
Buonocore, F;
Saka, N;
Ozbek, MN;
Aycan, Z;
Bereket, A;
Bas, F;
... Achermann, JC; + view all
(2016)
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Journal of Clinical Endocrinology and Metabolism
, 101
(1)
pp. 284-292.
10.1210/jc.2015-3250.
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Hiort, O;
Holterhus, PM;
Werner, R;
Marschke, C;
Hoppe, U;
Partsch, CJ;
Riepe, FG;
... Struve, D; + view all
(2005)
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
The Journal of Clinical Endocrinology & Metabolism
, 90
(1)
538 - 541.
10.1210/jc.2004-1059.
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Houzelstein, Denis;
Eozenou, Caroline;
Lagos, Carlos F;
Elzaiat, Maëva;
Bignon-Topalovic, Joelle;
Gonzalez, Inma;
Laville, Vincent;
... McElreavey, Ken; + view all
(2024)
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Nat Commun
, 15
(1)
, Article 2796. 10.1038/s41467-024-47162-2.
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Husebye, Eystein S;
Assié, Guillaume;
Krone, Nils;
Achermann, John C;
Altieri, Barbara;
Amar, Laurence;
Araujo-Castro, Marta;
... Zennaro, Maria-Christina; + view all
(2025)
EndoCompass Project: Research Roadmap for Adrenal and Cardiovascular Endocrinology.
Hormone Research in Paediatrics
, 98
(Suppl. 2)
pp. 16-28.
10.1159/000549146.
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Husebye, Eystein S;
Assié, Guillaume;
Krone, Nils;
Achermann, John C;
Altieri, Barbara;
Amar, Laurence;
Araujo-Castro, Marta;
... Zennaro, Maria-Christina; + view all
(2025)
EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology.
European Journal of Endocrinology
, 193
(2)
ii12-ii22.
10.1093/ejendo/lvaf063.
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Kallali, W;
Gray, E;
Mehdi, MZ;
Lindsay, RS;
Metherell, LA;
Buonocore, F;
Suntharalingham, JP;
... Donaldson, M; + view all
(2020)
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
European Journal of Endocrinology
10.1530/EJE-19-0696.
(In press).
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Katugampola, H;
King, PJ;
Chatterjee, S;
Meso, M;
Duncan, AJ;
Achermann, JC;
Guasti, L;
... Storr, HL; + view all
(2017)
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.
The Journal of Clinical Endocrinology & Metabolism
, 102
(9)
pp. 3349-3359.
10.1210/jc.2017-00763.
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Kelberman, D;
de Castro, SCP;
Huang, SW;
Crolla, JA;
Palmer, R;
Gregory, JW;
Taylor, D;
... Dattani, MT; + view all
(2008)
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
The Journal of Clinical Endocrinology & Metabolism
, 93
(5)
1865 - 1873.
10.1210/jc.2007-2337.
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Kildisiute, G;
Kholosy, WM;
Young, MD;
Roberts, K;
Elmentaite, R;
van Hooff, SR;
Pacyna, CN;
... Behjati, S; + view all
(2021)
Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.
Science Advances
, 7
(6)
, Article eabd3311. 10.1126/sciadv.abd3311.
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Kim, CJ;
Lin, L;
Huang, NW;
Quigley, CA;
AvRuskin, TW;
Achermann, JC;
Miller, WL;
(2008)
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
The Journal of Clinical Endocrinology & Metabolism
, 93
(3)
696 - 702.
10.1210/jc.2007-2330.
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Köhler, B.;
Lin, L.;
Mazen, I.;
Cetindag, C.;
Biebermann, H.;
Akkurt, I.;
Rossi, R.;
... Achermann, J.C.; + view all
(2009)
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
European Journal of Endocrinology
, 161
(2)
pp. 237-242.
10.1530/EJE-09-0067.
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Kyriakakis, N;
Shonibare, T;
Kyaw-Tun, J;
Lynch, J;
Lagos, CF;
Achermann, JC;
Murray, RD;
(2017)
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Pituitary
, 20
(5)
pp. 585-593.
10.1007/s11102-017-0822-x.
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Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
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Lin, L;
Conway, GS;
Hill, NR;
Dattani, MT;
Hindmarsh, PC;
Achermann, JC;
(2006)
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
The Journal of Clinical Endocrinology & Metabolism
, 91
(12)
5117 - 5121.
10.1210/jc.2006-0807.
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Lin, L;
Gu, WX;
Ozisik, G;
To, WS;
Owen, CJ;
Jameson, JL;
Achermann, JC;
(2006)
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience.
The Journal of Clinical Endocrinology & Metabolism
, 91
(8)
3048 - 3054.
10.1210/jc.2006-0603.
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Lin, L;
Hindmarsh, PC;
Metherell, LA;
Alzyoud, M;
Al-Ali, M;
Brain, CE;
Clark, AJL;
... Achermann, JC; + view all
(2007)
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Clinical Endocrinology
, 66
(2)
205 - 210.
10.1111/j.1365-2265.2006.02709.x.
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Lin, L;
Philibert, P;
Ferraz-de-Souza, B;
Kelberman, D;
Homfray, T;
Albanese, A;
Molini, V;
... Achermann, JC; + view all
(2007)
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
The Journal of Clinical Endocrinology & Metabolism
, 92
(3)
991 - 999.
10.1210/jc.2006-1672.
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Maharaj, Avinaash;
Güran, Tülay;
Buonocore, Federica;
Achermann, John C;
Metherell, Louise;
Prasad, Rathi;
Çetinkaya, Semra;
(2022)
Insights from long term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency.
Journal of the Endocrine Society
10.1210/jendso/bvac020.
(In press).
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Maharaj, Avinaash;
Kwong, Ruth;
Williams, Jack;
Smith, Christopher;
Storr, Helen;
Krone, Ruth;
Braslavsky, Debora;
... Prasad, Rathi; + view all
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A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Endocrine Connections
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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Journal of the Endocrine Society
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(2023)
A Single-Center, Observational Study of 607 Children and
Young People Presenting With Differences of Sex
Development (DSD).
Journal of the Endocrine Society
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Achermann, JC;
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Spada, A;
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Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.87.1.44.
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Martos-Moreno, GA;
Argente, J;
Achermann, JC;
Chan, LF;
(2021)
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Endocrinology, diabetes & metabolism case reports
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McElreavey, K;
Achermann, JC;
(2016)
Steroidogenic Factor-1 (SF-1, NR5A1) and
46,XX Ovotesticular Disorders of Sex Development:
One Factor, Many Phenotypes
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Horm Res Paediatr
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Genetics in Medicine
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McGlacken-Byrne, Sinéad M;
Achermann, John C;
Conway, Gerard S;
(2022)
Management of a girl with delayed puberty and elevated gonadotropins.
Journal of the Endocrine Society
, Article bvac108. 10.1210/jendso/bvac108.
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McGlacken-Byrne, Sinead M;
del Valle, Ignacio;
Stabej, Polona Le Quesne;
Bellutti, Laura;
Garcia-Alonso, Luz;
Ocaka, Louise A;
Ishida, Miho;
... Achermann, John C; + view all
(2022)
Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
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Del Valle, Ignacio;
Xenakis, Theodoros;
Simcock, Ian C;
Suntharalingham, Jenifer P;
Buonocore, Federica;
Crespo, Berta;
... Achermann, John C; + view all
(2025)
Mapping the anatomical and transcriptional landscape of early human fetal ovary development.
Scientific Reports
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McGlacken-Byrne, Sinead M;
Del Valle, Ignacio;
Xenakis, Theodoros;
Suntharalingham, Jenifer P;
Nel, Lydia;
Liptrot, Danielle;
Crespo, Berta;
... Achermann, John C; + view all
(2025)
Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.
Journal of the Endocrine Society
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Ishida, Miho;
Buonocore, Federica;
del Valle, Ignacio;
Cameron-Pimblett, Antoinette;
Dattani, Mehul T;
... Conway, Gerard S; + view all
(2025)
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
The Journal of Clinical Endocrinology & Metabolism
, Article dgaf124. 10.1210/clinem/dgaf124.
(In press).
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McGlacken-Byrne, SM;
Le Quesne Stabej, P;
Del Valle Torres, I;
Ocaka, L;
Gagunashvili, A;
Crespo, B;
Moreno, N;
... Conway, GS; + view all
(2021)
ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
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(In press).
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Metherell, L. A.;
Naville, D.;
Halaby, G.;
Begeot, M.;
Huebner, A.;
Nurnberg, G.;
Nurnberg, P.;
... Clark, A. J. L.; + view all
(2009)
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
Journal of Clinical Endocrinology and Metabolism
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10.1210/jc.2009-0467.
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Naville, D;
Halaby, G;
Begeot, M;
Huebner, A;
Nurnberg, G;
Nurnberg, P;
... Clark, AJL; + view all
(2009)
Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency.
The Journal of Clinical Endocrinology & Metabolism
, 94
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3865 - 3871.
10.1210/jc.2009-0467.
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Ozisik, G;
Mantovani, G;
Achermann, JC;
Persani, L;
Spada, A;
Weiss, J;
Beck-Peccoz, P;
(2003)
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
The Journal of Clinical Endocrinology & Metabolism
, 88
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10.1210/jc.2002-021034.
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Padidela, R;
Bryan, SM;
Abu-Amero, S;
Hudson-Davies, RE;
Achermann, JC;
Moore, GE;
Hindmarsh, PC;
(2012)
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight.
Clinical Endocrinology
, 76
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236 - 240.
10.1111/j.1365-2265.2011.04207.x.
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Pastor, VB;
Sahoo, S;
Boklan, J;
Schwabe, GC;
Saribeyoglu, E;
Strahm, B;
Lebrecht, D;
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(2018)
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Haematologica
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10.3324/haematol.2017.180778.
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Dumargne, M-C;
Rojo, S;
Witchel, SF;
Duncan, AJ;
Eozenou, C;
Bignon-Topalovic, J;
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(2018)
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Human Molecular Genetics
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10.1093/hmg/ddy037.
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Prasad, R;
Hadjidemetriou, I;
Maharaj, A;
Meimaridou, E;
Buonocore, F;
Saleem, M;
Hurcombe, J;
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(2017)
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Journal of Clinical Investigation
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10.1172/JCI90171.
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Reutens, AT;
Achermann, JC;
Ito, M;
Ito, M;
Gu, WX;
Habiby, RL;
Donohoue, PA;
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(1999)
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.84.2.504.
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Sahakitrungruang, T;
Soccio, RE;
Lang-Muritano, M;
Walker, JM;
Achermann, JC;
Miller, WL;
(2010)
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR).
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.2010-0437.
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Sahakitrungruang, T.;
Soccio, R. E.;
Lang-Muritano, M.;
Walker, J. M.;
Achermann, J. C.;
Miller, W. L.;
(2010)
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
Journal of Clinical Endocrinology and Metabolism
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10.1210/jc.2010-0437.
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Salvi, R;
Gomez, F;
Fiaux, M;
Schorderet, D;
Jameson, JL;
Achermann, JC;
Gaillard, RC;
(2002)
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.2001-011930.
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Seminara, SB;
Achermann, JC;
Genel, M;
Jameson, JL;
Crowley, WF;
(1999)
X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females.
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.84.12.4501.
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Semple, RK;
Achermann, JC;
Ellery, J;
Farooqi, IS;
Karet, FE;
Stanhope, RG;
O'Rahilly, S;
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Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
The Journal of Clinical Endocrinology & Metabolism
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10.1210/jc.2004-1418.
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Suntharalingham, Jenifer P;
Del Valle, Ignacio;
Buonocore, Federica;
McGlacken-Byrne, Sinead M;
Brooks, Tony;
Ogunbiyi, Olumide K;
Liptrot, Danielle;
... Achermann, John C; + view all
(2025)
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Communications Biology
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Suntharalingham, Jenifer P;
Ishida, Miho;
Cameron-Pimblett, Antoinette;
McGlacken-Byrne, Sinead M;
Buonocore, Federica;
Del Valle, Ignacio;
Madhan, Gaganjit Kaur;
... Achermann, John C; + view all
(2023)
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Frontiers in Endocrinology
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, Article 1227164. 10.3389/fendo.2023.1227164.
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Suntharalingham, Jenifer P;
Ishida, Miho;
Del Valle, Ignacio;
Stalman, Susanne E;
Solanky, Nita;
Wakeling, Emma;
Moore, Gudrun E;
... Buonocore, Federica; + view all
(2022)
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Frontiers in Endocrinology
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Suntharalingham, JP;
Buonocore, F;
Duncan, AJ;
Achermann, JC;
(2015)
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Best Practice & Research Clinical Endocrinology & Metabolism
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10.1016/j.beem.2015.07.004.
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Suntharalingham, JP;
Ishida, M;
Buonocore, F;
del Valle, I;
Solanky, N;
Demetriou, C;
Regan, L;
... Achermann, JC; + view all
(2019)
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
F1000Research
, 8
, Article 90. 10.12688/f1000research.15016.1.
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Tantawy, S;
Lin, L;
Akkurt, I;
Borck, G;
Klingmueller, D;
Hauffa, BP;
Krude, H;
... Koehler, B; + view all
(2012)
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
European Journal of Endocrinology
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10.1530/EJE-11-0944.
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Tomaselli, S;
Megiorni, F;
Lin, L;
Mazzilli, MC;
Gerrelli, D;
Majore, S;
Grammatico, P;
(2011)
Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments beta-Catenin Signaling.
PLOS ONE
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Williams, CE;
Nakhal, RS;
Achermann, JC;
Creighton, SM;
(2013)
Persistent unexplained congenital clitoromegaly in females born extremely prematurely.
Journal of Pediatric Urology
, 9
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10.1016/j.jpurol.2013.03.001.
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Wu, JY;
McGown, IN;
Lin, L;
Achermann, JC;
Harris, M;
Cowley, DM;
Aftimos, S;
... Cotterill, AM; + view all
(2013)
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.
Clinical Endocrinology
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545 - 550.
10.1111/cen.12012.
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Young, MD;
Mitchell, TJ;
Custers, L;
Margaritis, T;
Morales-Rodriguez, F;
Kwakwa, K;
Khabirova, E;
... Behjati, S; + view all
(2021)
Single cell derived mRNA signals across human kidney tumors.
Nature Communications
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Book chapter
|
El-Khairi, R;
Martinez-Aguayo, A;
Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function.
In: Ghizzoni, L and Cappa, M and Chrousos, G and Loche, S and Maghnie, M, (eds.)
Pediatric Adrenal Diseases.
(38 - 46).
Karger: Basel, Switzerland.
|
Thesis
|
Achermann, JC;
(2011)
SF-1 and DAX-1 in human disease.
Doctoral thesis , University of Cambridge (Special Regulations).
|
|
Achermann, JC;
(1998)
The pathophysiology of post-irradiation growth hormone insufficiency.
Doctoral thesis , UNSPECIFIED.
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