PMC Articles for MedGen (Select 1379844) - PMC

Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu

Orphanet J Rare Dis. 2023; 18: 126. Published online 2023 May 26. doi: 10.1186/s13023-023-02737-y

PMCID:: PMC10214642

Abstract Article PDF–1.4M

Select item 92433024.

Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism

Feng Zhu, Min Zhou, Xiuling Deng, Yujuan Li, Jing Xiong

Front Endocrinol (Lausanne) 2022; 13: 897069. Published online 2022 Jun 16. doi: 10.3389/fendo.2022.897069

PMCID:: PMC9243302

Abstract Article PDF–4.4M

Select item 82044465.

X-linked congenital adrenal hypoplasia: a case presentation

Hong Ouyang, Bo Chen, Na Wu, Ling Li, Runyu Du, Meichen Qian, Wenshu Yu, Yujing He, Xinyan Liu

BMC Endocr Disord. 2021; 21: 118. Published online 2021 Jun 15. doi: 10.1186/s12902-021-00785-8

PMCID:: PMC8204446

Abstract Article PDF–1.4M

Select item 78415176.

Comment on: Adrenal hypoplasia congenita in identical twins

Alia M. Al Amer, Kholud M. Al Rubaya

Saudi Med J. 2020; 41(10): 1146. doi: 10.15537/smj.2020.10.25391

PMCID:: PMC7841517

Article PDF–106K

Select item 76050077.

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

Siyue Liu, Libin Yan, Xinrong Zhou, Chen Chen, Daowen Wang, Gang Yuan

J Int Med Res. 2020 Feb; 48(2): 0300060519882151. Published online 2019 Oct 23. doi: 10.1177/0300060519882151

PMCID:: PMC7605007

Abstract Article PDF–503K

Select item 72546518.

Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia

Boo Kyeong Seo, Seul Ah. Jeong, Jae Young Cho, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn

BMC Endocr Disord. 2020; 20: 73. Published online 2020 May 27. doi: 10.1186/s12902-020-00553-0

PMCID:: PMC7254651

Abstract Article PDF–1.7M

Select item 70061409.

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation

Michelle Cerutti C. Vargas, Felipe Scipião Moura, Cecília P. Elias, Sara R. Carvalho, Nelson Rassi, Ilda S. Kunii, Magnus R. Dias-da-Silva, Flavia Amanda Costa-Barbosa

BMC Endocr Disord. 2020; 20: 21. Published online 2020 Feb 6. doi: 10.1186/s12902-020-0500-2

PMCID:: PMC7006140

Abstract Article PDF–1.3M

Select item 654927010.

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez

BMC Med Genet. 2019; 20: 98. Published online 2019 Jun 4. doi: 10.1186/s12881-019-0834-7

PMCID:: PMC6549270

Abstract Article PDF–985K

Select item 560694611.

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

Nikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, Julie Lynch, Carlos F. Lagos, John C. Achermann, Robert D. Murray

Pituitary. 2017; 20(5): 585–593. Published online 2017 Jul 24. doi: 10.1007/s11102-017-0822-x

PMCID:: PMC5606946

Abstract Article PDF–1.0M

Select item 515974512.

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

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

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2016 Dec 16.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2015 Aug; 29(4): 607–619. Published online 2015 Jul 14. doi: 10.1016/j.beem.2015.07.004

PMCID:: PMC5159745

Abstract Article PDF–628K

Select item 511964913.

Disorders of Sexual Development in Adult Women

Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager, the North American Society for Pediatric and Adolescent Gynecology

Obstet Gynecol. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Obstet Gynecol. 2016 Nov; 128(5): 1162–1173. doi: 10.1097/AOG.0000000000001672

PMCID:: PMC5119649

Abstract Article PDF–343K

Select item 464287814.

Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene

Zhe ZHANG, Ye FENG, Dan YE, Cheng-jiang LI, Feng-qin DONG, Ying TONG

J Zhejiang Univ Sci B. 2015 Nov; 16(11): 963–968. doi: 10.1631/jzus.B1400322

PMCID:: PMC4642878

Abstract Article PDF–674K

Select item 338459915.

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Zineb Lahlou, Domitille Goullon, Hélène Sarda-Thibault, Juliette Cahen-Varsaux, Joëlle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey, Raja Brauner

PLoS One. 2012; 7(6): e39828. Published online 2012 Jun 27. doi: 10.1371/journal.pone.0039828

PMCID:: PMC3384599

Abstract Article PDF–1013K

Select item 318518516.

Hypogonadotropic Hypogonadism in Subjects with DAX1 Mutations

Unmesh Jadhav, Rebecca M. Harris, J. Larry Jameson

Mol Cell Endocrinol. Author manuscript; available in PMC 2012 Oct 22.

Published in final edited form as: Mol Cell Endocrinol. 2011 Oct 22; 346(1-2): 65–73. Published online 2011 Jun 13. doi: 10.1016/j.mce.2011.04.017

PMCID:: PMC3185185

Abstract Article PDF–1.0M

Select item 303779417.

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

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

Hum Reprod. 2011 Mar; 26(3): 724–728. Published online 2011 Jan 11. doi: 10.1093/humrep/deq372

PMCID:: PMC3037794

Abstract Article PDF–216K

Select item 206576318.

LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1(NR0B1)-DAX1A heterodimerization

Anita K. Iyer, Yao-Hua Zhang, Edward R.B. McCabe

Mol Genet Metab. Author manuscript; available in PMC 2008 Sep 1.

Published in final edited form as: Mol Genet Metab. 2007; 92(1-2): 151–159. Published online 2007 Aug 7. doi: 10.1016/j.ymgme.2007.06.009

PMCID:: PMC2065763

Abstract Article PDF–841K

Select item 137702219.

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Y H Zhang, W Guo, R L Wagner, B L Huang, L McCabe, E Vilain, T P Burris, K Anyane-Yeboa, A H Burghes, D Chitayat, A E Chudley, M Genel, J M Gertner, G J Klingensmith, S N Levine, J Nakamoto, M I New, R A Pagon, J G Pappas, C A Quigley, I M Rosenthal, J D Baxter, R J Fletterick, E R McCabe

Am J Hum Genet. 1998 Apr; 62(4): 855–864. doi: 10.1086/301782

PMCID:: PMC1377022

Summary PDF–776K

Select item 50752220.

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.

R L Habiby, P Boepple, L Nachtigall, P M Sluss, W F Crowley, Jr, J L Jameson

J Clin Invest. 1996 Aug 15; 98(4): 1055–1062. doi: 10.1172/JCI118866

PMCID:: PMC507522

Summary PDF–323K

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filter your results:

All (26)
NIH grants (8)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 1379844) (26)
PMC
Putative esterase [Rhodococcoides fascians D188]
Putative esterase [Rhodococcoides fascians D188]
gi|1018280314|gnl|UoN|A3L23_04845|g 56143.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 26

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity