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Items: 11

1.
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
Julian Martinez-Mayer, Maria Ines Perez-Millan
Front Endocrinol (Lausanne) 2023; 14: 1132787. Published online 2023 Feb 8. doi: 10.3389/fendo.2023.1132787
PMCID:
PMC9945519
AbstractArticlePDF–1.5M
2.
Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review
Xinyue Zhang, Ying Zhang, Jinhui Wang, Jie Yang, Shuangni Yu, Min Yin, Sijian Li, Jiaxin Yang
Curr Oncol. 2022 Dec; 29(12): 9753–9759. Published online 2022 Dec 8. doi: 10.3390/curroncol29120766
PMCID:
PMC9776710
AbstractArticlePDF–2.1M
3.
Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association
Marta Camacho, Camil Castelo-Branco
Reprod Sci. 2022 Oct; 29(10): 2859–2863. Published online 2022 Feb 23. doi: 10.1007/s43032-022-00897-z
PMCID:
PMC9537203
AbstractArticlePDF–578K
4.
Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13
Catherine Livermore, Michelle Simon, Richard Reeves, Isabelle Stévant, Serge Nef, Madeleine Pope, Ann-Marie Mallon, Sara Wells, Nick Warr, Andy Greenfield
Genetics. 2020 Feb; 214(2): 467–477. Published online 2019 Dec 13. doi: 10.1534/genetics.119.302786
PMCID:
PMC7017026
AbstractArticlePDF–1.5M
5.
Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology
Leendert H. J. Looijenga, Chia-Sui Kao, Muhammad T. Idrees
Int J Mol Sci. 2019 Oct; 20(20): 5017. Published online 2019 Oct 10. doi: 10.3390/ijms20205017
PMCID:
PMC6834166
AbstractArticlePDF–42M
6.
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells
Sofia Boeg Winge, Marlene Danner Dalgaard, Kirstine G Belling, Jacob Malte Jensen, John Erik Nielsen, Lise Aksglaede, Mikkel Heide Schierup, Søren Brunak, Niels Erik Skakkebæk, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
Cell Death Dis. 2018 Jun; 9(6): 586. Published online 2018 May 22. doi: 10.1038/s41419-018-0671-1
PMCID:
PMC5964117
AbstractArticlePDF–2.9M
7.
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity
Yolande van Bever, Katja P. Wolffenbuttel, Hennie T. Brüggenwirth, Eric Blom, Annelies de Klein, Bert H.J. Eussen, Florijn van der Windt, Sabine E. Hannema, Arianne B. Dessens, Lambert C.J. Dorssers, Katharina Biermann, Remko Hersmus, Yolanda B. de Rijke, Leendert H.J. Looijenga
Sex Dev. 2018 Feb; 12(1-3): 145–154. Published online 2017 Sep 20. doi: 10.1159/000479946
PMCID:
PMC5872565
AbstractArticle
8.
Mutations in FEZF1 Cause Kallmann Syndrome
L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih Gurbuz, Y. Kenan Bicakci, Eda Mengen, Bilgin Yuksel, Susan Wray, A. Kemal Topaloglu
Am J Hum Genet. 2014 Sep 4; 95(3): 326–331. doi: 10.1016/j.ajhg.2014.08.006
PMCID:
PMC4157145
AbstractArticlePDF–452K
9.
Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
Taneli Raivio, Magdalena Avbelj, Mark J. McCabe, Christopher J. Romero, Andrew A. Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise C. Gregory, Daniel Diaczok, Vaitsa Tziaferi, Mariet W. Elting, Raja Padidela, Lacey Plummer, Cecilia Martin, Bihua Feng, Chengkang Zhang, Qun-Yong Zhou, Huaibin Chen, Moosa Mohammadi, Richard Quinton, Yisrael Sidis, Sally Radovick, Mehul T. Dattani, Nelly Pitteloud
J Clin Endocrinol Metab. 2012 Apr; 97(4): E694–E699. Published online 2012 Feb 8. doi: 10.1210/jc.2011-2938
PMCID:
PMC3319178
AbstractArticle
10.
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Diana Lourenço, Raja Brauner, Magda Rybczyńska, Claire Nihoul-Fékété, Ken McElreavey, Anu Bashamboo
Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4): 1597–1602. Published online 2011 Jan 10. doi: 10.1073/pnas.1010257108
PMCID:
PMC3029689
AbstractArticlePDF–845K
11.
Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers
Christina E Hoei-Hansen, Sigrid M Kraggerud, Vera M Abeler, Janne Kærn, Ewa Rajpert-De Meyts, Ragnhild A Lothe
Mol Cancer. 2007; 6: 12. Published online 2007 Feb 2. doi: 10.1186/1476-4598-6-12
PMCID:
PMC1797189
AbstractArticlePDF–2.0M

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