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Select item 109168351.

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan

Arch Endocrinol Metab. 2024; 68: e220254. Published online 2023 Nov 10. doi: 10.20945/2359-4292-2022-0254

PMCID:: PMC10916835

Article PDF–193K

Select item 108471742.

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins

Agata Zygmunt-Górska, Małgorzata Wójcik, Aleksandra Gilis-Januszewska, Anna Starmach, Mirosław Bik-Multanowski, Jerzy B. Starzyk

Hormones (Athens) 2024; 23(1): 69–79. Published online 2023 Dec 26. doi: 10.1007/s42000-023-00510-1

Correction in:: Hormones (Athens). 2024 Mar 18

PMCID:: PMC10847174

Article PDF–654K

Select item 105221613.

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Natasha G. Ludwig, Rafael F. Radaeli, Mariana M. X. Silva, Camila M. Romero, Alexandre J. F. Carrilho, Danielle Bessa, Delanie B. Macedo, Maria L. Oliveira, Ana Claudia Latronico, Tânia L. Mazzuco

Arch Endocrinol Metab. 2016 Nov-Dec; 60(6): 596–600. Published online 2016 Aug 23. doi: 10.1590/2359-3997000000196

PMCID:: PMC10522161

Article PDF–471K

Select item 83942604.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z. Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R. Carvalho

Genes (Basel) 2021 Aug; 12(8): 1128. Published online 2021 Jul 25. doi: 10.3390/genes12081128

PMCID:: PMC8394260

Article PDF–2.3M

Select item 82295125.

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome

Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Jarosław Kałużny, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

Genes (Basel) 2021 Jun; 12(6): 868. Published online 2021 Jun 5. doi: 10.3390/genes12060868

PMCID:: PMC8229512

Article PDF–1.1M

Select item 81983326.

The Amino Acid Transporter Mct10/Tat1 Is Important to Maintain the TSH Receptor at Its Canonical Basolateral Localization and Assures Regular Turnover of Thyroid Follicle Cells in Male Mice

Vaishnavi Venugopalan, Alaa Al-Hashimi, Jonas Weber, Maren Rehders, Maria Qatato, Eva K. Wirth, Ulrich Schweizer, Heike Heuer, François Verrey, Klaudia Brix

Int J Mol Sci. 2021 Jun; 22(11): 5776. Published online 2021 May 28. doi: 10.3390/ijms22115776

PMCID:: PMC8198332

Article PDF–5.4M

Select item 75663527.

Prkar1a haploinsufficiency ameliorates the growth hormone excess phenotype in Aip-deficient mice

Marie Helene Schernthaner-Reiter, Giampaolo Trivellin, Thomas Roetzer, Johannes A Hainfellner, Matthew F Starost, Constantine A Stratakis

Hum Mol Genet. 2020 Sep 1; 29(17): 2951–2961. Published online 2020 Aug 21. doi: 10.1093/hmg/ddaa178

PMCID:: PMC7566352

Article PDF–1.2M

Select item 74991448.

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel

J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 261–268. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2020.2019.0191

PMCID:: PMC7499144

Article PDF–443K

Select item 73043529.

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome

Wanxue Xu, Lacey Plummer, Richard Quinton, Francesca Swords, William F. Crowley, Stephanie B. Seminara, Ravikumar Balasubramanian

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005033. doi: 10.1101/mcs.a005033

PMCID:: PMC7304352

Article PDF–1.6M

Select item 685966410.

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency

Tong Cheng, Hao Wang, Bing Han, Hui Zhu, Hai-Jun Yao, Shuang-Xia Zhao, Wen-Jiao Zhu, Hua-Ling Zhai, Fu-Guo Chen, Huai-Dong Song, Kai-Xiang Cheng, Yang Liu, Jie Qiao

Asian J Androl. 2019 Nov-Dec; 21(6): 577–581. Published online 2019 Apr 23. doi: 10.4103/aja.aja_113_18

PMCID:: PMC6859664

Article PDF–748K

Select item 580604411.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Fernanda A. Correa, Marcela M. França, Qing Fang, Qianyi Ma, Tania A. Bachega, Andresa Rodrigues, Bilge A. Ozel, Jun Z. Li, Berenice B. Mendonca, Alexander A. L. Jorge, Luciani R. Carvalho, Sally A. Camper, Ivo J. P Arnhold

Arch Endocrinol Metab. 2017 Nov-Dec; 61(6): 633–636. Published online 2017 Dec 1. doi: 10.1590/2359-3997000000311

PMCID:: PMC5806044

Article PDF–686K

Select item 539349312.

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

A. Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A. Dissen, L. Damla Kotan, Craig A. McArdle, A. Filiz Koc, Ben C. Hamel, Metin Guclu, Esra D. Papatya, Erdal Eren, Eda Mengen, Fatih Gurbuz, Mandy Cook, Juan M. Castellano, M. Burcu Kekil, Neslihan O. Mungan, Bilgin Yuksel, Sergio R. Ojeda

J Clin Endocrinol Metab. 2014 Oct; 99(10): E2067–E2075. Published online 2014 Jul 17. doi: 10.1210/jc.2014-1836

PMCID:: PMC5393493

Article

Select item 515566513.

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

Qing Fang, Akima S. George, Michelle L. Brinkmeier, Amanda H. Mortensen, Peter Gergics, Leonard Y. M. Cheung, Alexandre Z. Daly, Adnan Ajmal, María Ines Pérez Millán, A. Bilge Ozel, Jacob O. Kitzman, Ryan E. Mills, Jun Z. Li, Sally A. Camper

Endocr Rev. 2016 Dec; 37(6): 636–675. Published online 2016 Nov 9. doi: 10.1210/er.2016-1101

PMCID:: PMC5155665

Article

Select item 489563414.

Pituitary Dwarfism in Saarloos and Czechoslovakian Wolfdogs is Associated with a Mutation in LHX3

A.M.W.Y. Voorbij, P.A. Leegwater, H.S. Kooistra

J Vet Intern Med. 2014 Nov-Dec; 28(6): 1770–1774. Published online 2014 Oct 1. doi: 10.1111/jvim.12448

PMCID:: PMC4895634

Article PDF–704K

Select item 475537315.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Petra Dusatkova, Roland Pfäffle, Milton R Brown, Natallia Akulevich, Ivo JP Arnhold, Maria A Kalina, Karolina Kot, Ciril Krzisnik, Manuel C Lemos, Jana Malikova, Ruta Navardauskaite, Barbora Obermannova, Zuzana Pribilincova, Agnes Sallai, Gordana Stipancic, Rasa Verkauskiene, Ondrej Cinek, Werner F Blum, John S Parks, Frederic Austerlitz, Jan Lebl

Eur J Hum Genet. 2016 Mar; 24(3): 415–420. Published online 2015 Jun 10. doi: 10.1038/ejhg.2015.126

PMCID:: PMC4755373

Article PDF–565K

Select item 462333416.

GH deficiency status combined with GH receptor polymorphism affects response to GH in children

Armand Valsesia, Pierre Chatelain, Adam Stevens, Valentina A Peterkova, Alicia Belgorosky, Mohamad Maghnie, Franco Antoniazzi, Ekaterina Koledova, Jerome Wojcik, Pierre Farmer, Benoit Destenaves, Peter Clayton, the PREDICT Investigator group

Eur J Endocrinol. 2015 Dec; 173(6): 777–789. Prepublished online 2015 Sep 4. doi: 10.1530/EJE-15-0474

PMCID:: PMC4623334

Article PDF–493K

Select item 447751317.

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

Ellen A. Tsai, Christopher M. Grochowski, Alexandra M. Falsey, Ramakrishnan Rajagopalan, Danielle Wendel, Marcella Devoto, Ian D. Krantz, Kathleen M. Loomes, Nancy B. Spinner

Hum Mutat. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Hum Mutat. 2015 Jun; 36(6): 631–637. Published online 2015 Apr 21. doi: 10.1002/humu.22786

PMCID:: PMC4477513

Article PDF–1.0M

Select item 445479818.

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation

L. C. Gregory, K. N. Humayun, J. P. G. Turton, M. J. McCabe, S. J. Rhodes, M. T. Dattani

J Clin Endocrinol Metab. 2015 Jun; 100(6): 2158–2164. Published online 2015 Apr 14. doi: 10.1210/jc.2014-4484

PMCID:: PMC4454798

Article

Select item 429365119.

An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

Jayanthy Ramesh, Mudiganti Nagasatyavani, Javvadii Venkateswarlu, Jakka Nagender

J Clin Res Pediatr Endocrinol. 2014 Sep; 6(3): 187–189. Published online 2014 Sep 5. doi: 10.4274/jcrpe.1225

PMCID:: PMC4293651

Article PDF–92K

Select item 409190420.

Hormonal Regulation of Cyp4a Isoforms in Mouse Liver and Kidney

Youcai Zhang, Curtis D. Klaassen

Xenobiotica. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Xenobiotica. 2013 Dec; 43(12): 1055–1063. Published online 2013 May 31. doi: 10.3109/00498254.2013.797622

PMCID:: PMC4091904

Article PDF–1.5M

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