PMC Articles for MedGen (Select 9075) - PMC

Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G. G. Kay, Matthieu Peycelon, Jean-Pierre Siffroi, Inas Mazen, John C. Achermann, Yuliya Shcherbak, Juliane Leger, Agnes Sallai, Jean-Claude Carel, Laetitia Martinerie, Romain Le Ru, Gerard S. Conway, Brigitte Mignot, Lionel Van Maldergem, Rita Bertalan, Evgenia Globa, Raja Brauner, Ralf Jauch, Serge Nef, Andy Greenfield, Anu Bashamboo

Genet Med. 2020; 22(1): 150–159. Published online 2019 Jul 24. doi: 10.1038/s41436-019-0606-y

PMCID:: PMC6944638

Abstract Article PDF–7.7M

Select item 69357115.

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

Yotsapon Thewjitcharoen, Veekij Veerasomboonsin, Soontaree Nakasatien, Sirinate Krittiyawong, Thep Himathongkam

Endocrinol Diabetes Metab Case Rep. 2019; 2019: 19-0122. Published online 2019 Nov 14. doi: 10.1530/EDM-19-0122

PMCID:: PMC6935711

Abstract Article PDF–384K

Select item 69225406.

Clinical Management in Mixed Gonadal Dysgenesis with Chromosomal Mosaicism: Considerations in Newborns and Adolescents

Erica M. Weidler, Margaret Pearson, Kathleen van Leeuwen, Erin Garvey

Semin Pediatr Surg. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Semin Pediatr Surg. 2019 Oct; 28(5): 150841. Published online 2019 Sep 19. doi: 10.1016/j.sempedsurg.2019.150841

PMCID:: PMC6922540

Abstract Article PDF–464K

Select item 68738487.

EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION

Meghan E. Fredette, Katelyn Cusmano, Chanika Phornphutkul, Jennifer Schwab, Anthony Caldamone, Lisa Swartz Topor

AACE Clin Case Rep. 2019 Nov-Dec; 5(6): e380–e383. Published online 2019 Aug 14. doi: 10.4158/ACCR-2019-0285

PMCID:: PMC6873848

Abstract Article PDF–348K

Select item 68636458.

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis

ZEHRA AGHA, ZAFAR IQBAL, TJITSKE KLEEFSTRA, CHRISTIANE ZWEIER, ROLPH PFUNDT, RAHEEL QAMAR, HANS VAN BOKHOVEN, MARJOLEIN H. WILLEMSEN

Genet Res (Camb) 2015; 97: e19. Published online 2015 Oct 6. doi: 10.1017/S001667231500021X

PMCID:: PMC6863645

Abstract Article PDF–157K

Select item 68013589.

Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding

Tsuyoshi Nishibukuro, Junko Igaki-Miyamoto, Yukihiro Hasegawa

Clin Pediatr Endocrinol. 2019; 28(4): 135–138. Published online 2019 Oct 19. doi: 10.1297/cpe.28.135

PMCID:: PMC6801358

Abstract Article PDF–920K

Select item 662643810.

Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor

Farnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D Roberts

BMJ Case Rep. 2019; 12(7): e227986. Published online 2019 Jul 12. doi: 10.1136/bcr-2018-227986

PMCID:: PMC6626438

Abstract Article PDF–201K

Select item 651642411.

THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM

V. Matulevicius, V. Urbanavicius, S. Lukosevicius, L. Ciaplinskiene, R. Ostrauskas

Acta Endocrinol (Buchar) 2018 Oct-Dec; 14(4): 527–532. doi: 10.4183/aeb.2018.527

PMCID:: PMC6516424

Abstract Article PDF–431K

Select item 644522212.

Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis

Xuan Zong, Jia-Xin Yang, Ying Zhang, Dong-Yan Cao, Keng Shen, Yan You, Li-Na Guo

Onco Targets Ther. 2019; 12: 2365–2372. Published online 2019 Mar 28. doi: 10.2147/OTT.S192111

PMCID:: PMC6445222

Abstract Article PDF–4.7M

Select item 641836613.

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty

Kathy Wagner‐Mahler, Jean‐Yves Kurzenne, Frederique Gastaud, Marie Hoflack, Patricia Panaia Ferrari, Etienne Berard, Fabienne Giuliano, Houda Karmous‐Benailly, Pamela Moceri, Celine Jouannelle, Marine Bourcier, Elise Robart, Yves Morel

Mol Genet Genomic Med. 2019 Mar; 7(3): e558. Published online 2019 Jan 28. doi: 10.1002/mgg3.558

PMCID:: PMC6418366

Abstract Article PDF–637K

Select item 771630614.

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

Xue-Fei Leng, Ke Lei, Yi Li, Fei Tian, Qin Yao, Qing-Mei Zheng, Zhi-Hong Chen

World J Clin Cases. 2020 Nov 26; 8(22): 5737–5743. Published online 2020 Nov 26. doi: 10.12998/wjcc.v8.i22.5737

PMCID:: PMC7716306

Abstract Article PDF–5.6M

Select item 621987015.

Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children’s Oncology Group AGCT 0132 study

Bryan J. Dicken, Deborah F. Billmire, Mark Krailo, Caihong Xia, Furqan Shaikh, John W. Cullen, Thomas A. Olson, Farzana Pashankar, Marcio H. Malogolowkin, James F. Amatruda, Frederick J. Rescorla, Rachel A. Egler, Jonathan H. Ross, Carlos Rodriguez-Galindo, A. Lindsay Frazier

Pediatr Blood Cancer. Author manuscript; available in PMC 2018 Nov 6.

Published in final edited form as: Pediatr Blood Cancer. 2018 Apr; 65(4): 10.1002/pbc.26913. Published online 2017 Dec 29. doi: 10.1002/pbc.26913

PMCID:: PMC6219870

Abstract Article PDF–283K

Select item 583838016.

Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis

Feryal Karahan, Elvan Çağlar Çıtak, Emel Yaman, Mehmet Alakaya, Fatih Sağcan, Eda Bengi Yılmaz, Funda Kuş, İclal Gürses, Yüksel Balcı

J Clin Res Pediatr Endocrinol. 2018 Mar; 10(1): 87–90. Published online 2018 Feb 26. doi: 10.4274/jcrpe.4905

PMCID:: PMC5838380

Abstract Article PDF–471K

Select item 583837017.

The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years

Merih Berberoğlu, Zeynep Şıklar, Ankara University Faculty of Medicine Disorders of Sexual Development Ethics Committee

J Clin Res Pediatr Endocrinol. 2018 Mar; 10(1): 30–37. Published online 2018 Feb 26. doi: 10.4274/jcrpe.4826

PMCID:: PMC5838370

Abstract Article PDF–349K

Select item 561459318.

CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

Masafumi Inui, Moe Tamano, Tomoko Kato, Shuji Takada

Biochem Biophys Rep. 2017 Mar; 9: 238–244. Published online 2017 Jan 9. doi: 10.1016/j.bbrep.2017.01.001

PMCID:: PMC5614593

Abstract Article PDF–1.5M

Select item 548922719.

Andrea Granados, Veronica I. Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H. Quint, Ming Chen, Catherine E. Keegan

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Jun; 175(2): 253–259. Published online 2017 May 15. doi: 10.1002/ajmg.c.31559

PMCID:: PMC5489227

Abstract Article PDF–352K

Select item 541108720.

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort

PLoS One. 2017; 12(5): e0176720. Published online 2017 May 1. doi: 10.1371/journal.pone.0176720

PMCID:: PMC5411087

Abstract Article PDF–3.5M

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