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Items: 1 to 50 of 107

1.

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K.

Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22.

2.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A.

Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037.

3.

NR0B1-Related Adrenal Hypoplasia Congenita.

Achermann JC, Vilain EJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Nov 20 [updated 2018 Jan 25].

4.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW.

Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7.

5.

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.

Katugampola H, King PJ, Chatterjee S, Meso M, Duncan AJ, Achermann JC, Guasti L, Ghataore L, Taylor NF, Allen R, Marlene S, Aquilina J, Abbara A, Jaysena CN, Dhillo WS, Dunkel L, Sankilampi U, Storr HL.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3349-3359. doi: 10.1210/jc.2017-00763.

6.

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N, Shonibare T, Kyaw-Tun J, Lynch J, Lagos CF, Achermann JC, Murray RD.

Pituitary. 2017 Oct;20(5):585-593. doi: 10.1007/s11102-017-0822-x.

7.

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.

Çetinkaya S, Güran T, Kurnaz E, Keskin M, Sağsak E, Savaş Erdeve S, Suntharalingham JP, Buonocore F, Achermann JC, Aycan Z.

J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):68-73. doi: 10.4274/jcrpe.4638. Epub 2017 Jul 24.

8.

A genomic atlas of human adrenal and gonad development.

Del Valle I, Buonocore F, Duncan AJ, Lin L, Barenco M, Parnaik R, Shah S, Hubank M, Gerrelli D, Achermann JC.

Wellcome Open Res. 2017 Apr 7;2:25. doi: 10.12688/wellcomeopenres.11253.2.

9.

Genetic disorders of nuclear receptors.

Achermann JC, Schwabe J, Fairall L, Chatterjee K.

J Clin Invest. 2017 Apr 3;127(4):1181-1192. doi: 10.1172/JCI88892. Epub 2017 Apr 3. Review.

10.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC.

J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27.

11.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.

J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.

12.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.

Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Review.

13.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC.

Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390. No abstract available.

14.

Human sex development: targeted technologies to improve diagnosis.

Buonocore F, Achermann JC.

Genome Biol. 2016 Dec 15;17(1):257.

15.

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

McElreavey K, Achermann JC.

Horm Res Paediatr. 2017;87(3):189-190. doi: 10.1159/000454806. Epub 2016 Dec 15. No abstract available.

16.

Mitochondrial disease and endocrine dysfunction.

Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S.

Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7. Review.

PMID:
27716753
17.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC.

Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Erratum in: Hum Mol Genet. 2016 Dec 1;25(23 ):5286.

18.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC.

J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2.

19.

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

Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC.

Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19. doi: 10.1016/j.beem.2015.07.004. Epub 2015 Jul 14. Review.

20.

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N, Miles H, O'Toole S, Perry L, Sanders C, Simmonds M, Watt A, Willis D.

Clin Endocrinol (Oxf). 2016 May;84(5):771-88. doi: 10.1111/cen.12857. Epub 2015 Aug 13.

21.

Disorders of sex development: effect of molecular diagnostics.

Achermann JC, Domenice S, Bachega TA, Nishi MY, Mendonca BB.

Nat Rev Endocrinol. 2015 Aug;11(8):478-88. doi: 10.1038/nrendo.2015.69. Epub 2015 May 5. Review.

PMID:
25942653
22.

Persistent unexplained congenital clitoromegaly in females born extremely prematurely.

Williams CE, Nakhal RS, Achermann JC, Creighton SM.

J Pediatr Urol. 2013 Dec;9(6 Pt A):962-5. doi: 10.1016/j.jpurol.2013.03.001. Epub 2013 Apr 22.

23.

Characterisation and validation of insertions and deletions in 173 patient exomes.

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E.

PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14.

24.

Stress response and child health.

Charmandari E, Achermann JC, Carel JC, Soder O, Chrousos GP.

Sci Signal. 2012 Oct 30;5(248):mr1. doi: 10.1126/scisignal.2003595. Review.

PMID:
23112343
25.

Steroidogenic factor-1 and human disease.

El-Khairi R, Achermann JC.

Semin Reprod Med. 2012 Oct;30(5):374-81. doi: 10.1055/s-0032-1324720. Epub 2012 Oct 8. Review.

26.

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

Wu JY, McGown IN, Lin L, Achermann JC, Harris M, Cowley DM, Aftimos S, Neville KA, Choong CS, Cotterill AM.

Clin Endocrinol (Oxf). 2013 Apr;78(4):545-50. doi: 10.1111/cen.12012.

27.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.

Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.

28.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Tantawy S, Lin L, Akkurt I, Borck G, Klingmüller D, Hauffa BP, Krude H, Biebermann H, Achermann JC, Köhler B.

Eur J Endocrinol. 2012 Jul;167(1):125-30. doi: 10.1530/EJE-11-0944. Epub 2012 Apr 3.

29.

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I.

J Pediatr Urol. 2013 Apr;9(2):139-44. doi: 10.1016/j.jpurol.2011.12.012. Epub 2012 Jan 26.

30.

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

El-Khairi R, Parnaik R, Duncan AJ, Lin L, Gerrelli D, Dattani MT, Conway GS, Achermann JC.

Mol Cell Endocrinol. 2012 Apr 4;351(2):264-8. doi: 10.1016/j.mce.2011.12.016. Epub 2012 Jan 3.

31.

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

Padidela R, Bryan SM, Abu-Amero S, Hudson-Davies RE, Achermann JC, Moore GE, Hindmarsh PC.

Clin Endocrinol (Oxf). 2012 Feb;76(2):236-40. doi: 10.1111/j.1365-2265.2011.04207.x.

32.

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

Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S, Hughes IA, Izatt L, Krone N, Miles HL, O'Toole S, Perry L, Sanders C, Simmonds M, Wallace AM, Watt A, Willis D.

Clin Endocrinol (Oxf). 2011 Jul;75(1):12-26. doi: 10.1111/j.1365-2265.2011.04076.x.

33.

Ambiguous genitalia.

Achermann JC, Eugster EA, Shulman DI.

J Clin Endocrinol Metab. 2011 Mar;96(3):33A, 34A. English, Spanish. No abstract available.

PMID:
21378218
34.

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.

Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC.

PLoS One. 2011 Jan 28;6(1):e16366. doi: 10.1371/journal.pone.0016366.

35.

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 B, Hudson-Davies RE, Lin L, Parnaik R, Hubank M, Dattani MT, Achermann JC.

J Clin Endocrinol Metab. 2011 Apr;96(4):E663-8. doi: 10.1210/jc.2010-2021. Epub 2011 Jan 14.

36.

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.

Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S.

Hum Reprod. 2011 Mar;26(3):724-8. doi: 10.1093/humrep/deq372. Epub 2011 Jan 11.

37.

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R, Martinez-Aguayo A, Ferraz-de-Souza B, Lin L, Achermann JC.

Endocr Dev. 2011;20:38-46. doi: 10.1159/000321213. Epub 2010 Dec 16. Review.

PMID:
21164257
38.

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.

Ferraz-de-Souza B, Lin L, Shah S, Jina N, Hubank M, Dattani MT, Achermann JC.

FASEB J. 2011 Apr;25(4):1166-75. doi: 10.1096/fj.10-170522. Epub 2010 Dec 16.

39.

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

Ferraz-de-Souza B, Lin L, Achermann JC.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):198-205. doi: 10.1016/j.mce.2010.11.006. Epub 2010 Nov 13. Review.

40.

Puberty, stress, and sudden death.

Guclu M, Lin L, Erturk E, Achermann JC, Cangul H.

Lancet. 2010 Oct 30;376(9751):1512. doi: 10.1016/S0140-6736(10)61153-1. No abstract available.

PMID:
21036276
41.

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K.

Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736.

42.

New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K.

Sex Dev. 2010 Sep;4(4-5):213-24. doi: 10.1159/000314917. Epub 2010 Jul 3. Review. Erratum in: Sex Dev. 2010 Sep;4(4-5):224. Achermann, J [corrected to Achermann, J C].

43.

Update--steroidogenic factor 1 (SF-1, NR5A1).

Köhler B, Achermann JC.

Minerva Endocrinol. 2010 Jun;35(2):73-86. Review.

PMID:
20595937
44.

Holistic management of DSD.

Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC.

Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54. doi: 10.1016/j.beem.2010.01.006. Review.

45.

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL.

J Clin Endocrinol Metab. 2010 Jul;95(7):3352-9. doi: 10.1210/jc.2010-0437. Epub 2010 May 5. Erratum in: J Clin Endocrinol Metab. 2011 Dec;96(12):3908.

46.

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ.

J Clin Endocrinol Metab. 2009 Oct;94(10):3865-71. doi: 10.1210/jc.2009-0467. Epub 2009 Sep 22.

47.

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.

Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Grüters A, Achermann JC.

Eur J Endocrinol. 2009 Aug;161(2):237-42. doi: 10.1530/EJE-09-0067. Epub 2009 May 13.

48.

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.

N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.

49.

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.

Lin L, Achermann JC.

Sex Dev. 2008;2(4-5):200-9. doi: 10.1159/000152036. Epub 2008 Nov 5. Review.

50.

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.

Ferraz-de-Souza B, Martin F, Mallet D, Hudson-Davies RE, Cogram P, Lin L, Gerrelli D, Beuschlein F, Morel Y, Huebner A, Achermann JC.

J Clin Endocrinol Metab. 2009 Feb;94(2):678-83. doi: 10.1210/jc.2008-1064. Epub 2008 Nov 4.

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