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Items: 1 to 20 of 63

1.

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.

New MI, Tong YK, Yuen T, Jiang P, Pina C, Chan KC, Khattab A, Liao GJ, Yau M, Kim SM, Chiu RW, Sun L, Zaidi M, Lo YM.

J Clin Endocrinol Metab. 2014 Jun;99(6):E1022-30. doi: 10.1210/jc.2014-1118. Epub 2014 Feb 28.

2.

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

Tardy-Guidollet V, Menassa R, Costa JM, David M, Bouvattier-Morel C, Baumann C, Houang M, Lorenzini F, Philip N, Odent S, Guichet A, Morel Y.

J Clin Endocrinol Metab. 2014 Apr;99(4):1180-8. doi: 10.1210/jc.2013-2895. Epub 2014 Jan 28.

PMID:
24471566
3.

Congenital adrenal hyperplasia and the second newborn screen.

Chan CL, McFann K, Taylor L, Wright D, Zeitler PS, Barker JM.

J Pediatr. 2013 Jul;163(1):109-13.e1. doi: 10.1016/j.jpeds.2013.01.002. Epub 2013 Feb 12. Erratum in: J Pediatr. 2013 Jul;163(1):308.

PMID:
23414665
4.

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.

Proc Natl Acad Sci U S A. 2013 Feb 12;110(7):2611-6. doi: 10.1073/pnas.1300057110. Epub 2013 Jan 28.

5.

Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.

Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.

J Perinatol. 2013 Jan;33(1):76-8. doi: 10.1038/jp.2012.5.

PMID:
23269230
6.

Management of CAH during pregnancy: optimizing outcomes.

Witchel SF.

Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):489-96. doi: 10.1097/MED.0b013e32835a1a2e. Review.

PMID:
23108200
7.

Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia.

Sarafoglou K, Banks K, Gaviglio A, Hietala A, McCann M, Thomas W.

Pediatrics. 2012 Nov;130(5):e1261-8. doi: 10.1542/peds.2012-1219. Epub 2012 Oct 15.

8.

Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Reisch N, Arlt W, Krone N.

Horm Res Paediatr. 2011;76(2):73-85. doi: 10.1159/000327794. Epub 2011 May 18. Review.

PMID:
21597280
9.

Final adult height in children with congenital adrenal hyperplasia treated with growth hormone.

Lin-Su K, Harbison MD, Lekarev O, Vogiatzi MG, New MI.

J Clin Endocrinol Metab. 2011 Jun;96(6):1710-7. doi: 10.1210/jc.2010-2699. Epub 2011 Mar 30.

10.

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.

Auchus RJ, Witchel SF, Leight KR, Aisenberg J, Azziz R, Bachega TA, Baker LA, Baratz AB, Baskin LS, Berenbaum SA, Breault DT, Cerame BI, Conway GS, Eugster EA, Fracassa S, Gearhart JP, Geffner ME, Harris KB, Hurwitz RS, Katz AL, Kalro BN, Lee PA, Alger Lin G, Loechner KJ, Marshall I, Merke DP, Migeon CJ, Miller WL, Nenadovich TL, Oberfield SE, Pass KA, Poppas DP, Lloyd-Puryear MA, Quigley CA, Riepe FG, Rink RC, Rivkees SA, Sandberg DE, Schaeffer TL, Schlussel RN, Schneck FX, Seely EW, Snyder D, Speiser PW, Therrell BL, Vanryzin C, Vogiatzi MG, Wajnrajch MP, White PC, Zuckerman AE.

Int J Pediatr Endocrinol. 2010;2010:275213. doi: 10.1155/2010/275213. Epub 2011 Jan 10.

11.

Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis.

Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, Abu Elnour NO, Gallegos-Orozco JF, Fatourechi MM, Agrwal N, Lane MA, Albuquerque FN, Erwin PJ, Montori VM.

J Clin Endocrinol Metab. 2010 Sep;95(9):4161-72. doi: 10.1210/jc.2009-2616. Review.

PMID:
20823467
12.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC; Endocrine Society.

J Clin Endocrinol Metab. 2010 Sep;95(9):4133-60. doi: 10.1210/jc.2009-2631. Erratum in: J Clin Endocrinol Metab. 2010 Nov;95(11):5137.

13.

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients.

Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE).

J Clin Endocrinol Metab. 2010 Nov;95(11):5110-21. doi: 10.1210/jc.2010-0917. Epub 2010 Aug 18.

14.

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.

J Clin Endocrinol Metab. 2009 Oct;94(10):3954-8. doi: 10.1210/jc.2009-0487. Epub 2009 Sep 22.

PMID:
19773403
15.

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

Parajes S, Quinteiro C, Domínguez F, Loidi L.

PLoS One. 2008 May 14;3(5):e2138. doi: 10.1371/journal.pone.0002138.

16.

Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood.

Kashimada K, Ono M, Onishi T, Koyama S, Toyoura T, Imai K, Saisho S, Mizutani S.

Endocr J. 2008 May;55(2):397-404. Epub 2008 Apr 2.

17.

Prevalence of nonclassic adrenal hyperplasia (NCAH) in hyperandrogenic women.

Fanta M, Cibula D, Vrbíková J.

Gynecol Endocrinol. 2008 Mar;24(3):154-7. doi: 10.1080/09513590801911992.

PMID:
18335331
18.

A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.

Nigawara T, Kageyama K, Sakihara S, Takayasu S, Kawahara M, Imai A, Ohyama C, Usui T, Sasano H, Suda T.

Endocr J. 2008 May;55(2):291-7. Epub 2008 Mar 7.

19.

Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults.

Bachelot A, Chakthoura Z, Rouxel A, Dulon J, Touraine P.

Horm Res. 2008;69(4):203-11. doi: 10.1159/000113020. Epub 2008 Jan 21. Review.

20.

Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess.

Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI.

Arch Sex Behav. 2008 Feb;37(1):85-99. Review.

PMID:
18157628

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