PMC Articles for MedGen (Select 215300) - PMC

Ryusaku Matsumoto, Hidetaka Suga, Takashi Aoi, Hironori Bando, Hidenori Fukuoka, Genzo Iguchi, Satoshi Narumi, Tomonobu Hasegawa, Keiko Muguruma, Wataru Ogawa, Yutaka Takahashi

J Clin Invest. 2020 Feb 3; 130(2): 641–654. Published online 2019 Dec 17. doi: 10.1172/JCI127378

PMCID:: PMC6994153

Article PDF–13M

Select item 63008624.

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati

Endocr Connect. 2018 Dec; 7(12): 1432–1441. Published online 2018 Nov 23. doi: 10.1530/EC-18-0486

PMCID:: PMC6300862

Article PDF–2.5M

Select item 43992745.

Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia

Peter Gergics, Michelle L. Brinkmeier, Sally A. Camper

Mol Endocrinol. 2015 Apr; 29(4): 597–612. Published online 2015 Feb 10. doi: 10.1210/me.2014-1380

PMCID:: PMC4399274

Article

Select item 35982476.

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone

BMC Med Genet. 2013; 14: 28. Published online 2013 Feb 23. doi: 10.1186/1471-2350-14-28

PMCID:: PMC3598247

Article PDF–3.2M

Select item 28142287.

Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

Sasigarn A. Bowden, Kevin E. Klingele

Int J Pediatr Endocrinol. 2009; 2009: 609131. Published online 2010 Jan 11. doi: 10.1155/2009/609131

PMCID:: PMC2814228

Article PDF–1.7M

Select item 27702678.

Senescence Mediates Pituitary Hypoplasia and Restrains Pituitary Tumor Growth

Vera Chesnokova, Svetlana Zonis, Tami Rubinek, Run Yu, Anat Ben-Shlomo, Kalman Kovacs, Kolja Wawrowsky, Shlomo Melmed

Cancer Res. Author manuscript; available in PMC 2009 Oct 29.

Published in final edited form as: Cancer Res. 2007 Nov 1; 67(21): 10564–10572. doi: 10.1158/0008-5472.CAN-07-0974

PMCID:: PMC2770267

Article PDF–619K

Select item 27687539.

Mechanisms Underlying Pituitary Hypoplasia and Failed Cell Specification in Lhx3 Deficient Mice

Buffy S. Ellsworth, Darcy L. Butts, Sally A. Camper

Dev Biol. Author manuscript; available in PMC 2009 Oct 27.

Published in final edited form as: Dev Biol. 2008 Jan 1; 313(1): 118–129. Published online 2007 Oct 11. doi: 10.1016/j.ydbio.2007.10.006

PMCID:: PMC2768753

Article PDF–2.1M

Select item 243554610.

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

Selcuk Dagdelen, Aysegul Atmaca, Ayfer Alikasifoglu, Tomris Erbas

J Med Case Reports. 2008; 2: 210. Published online 2008 Jun 18. doi: 10.1186/1752-1947-2-210

PMCID:: PMC2435546

Article PDF–199K

Select item 120144411.

Pituitary hypoplasia in Pttg^−/− mice is protective for Rb^+/⁻ pituitary tumorigenesis.

Vera Chesnokova, Kalman Kovacs, Anna-Valeria Castro, Svetlana Zonis, Shlomo Melmed

Mol Endocrinol. Author manuscript; available in PMC 2005 Oct 11.

Published in final edited form as: Mol Endocrinol. 2005 Sep; 19(9): 2371–2379. Published online 2005 May 26. doi: 10.1210/me.2005-0137

PMCID:: PMC1201444

Article PDF–492K

Select item 979547812.

POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism

Kazuhisa Akiba, Yukihiro Hasegawa, Yuko Katoh-Fukui, Miho Terao, Shuji Takada, Tomonobu Hasegawa, Maki Fukami, Satoshi Narumi

Endocrinology. 2023 Feb; 164(2): bqac198. Published online 2022 Nov 26. doi: 10.1210/endocr/bqac198

PMCID:: PMC9795478

Article

Select item 771440513.

Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

Emily J. Lodge, Paraskevi Xekouki, Tatiane S. Silva, Cristiane Kochi, Carlos A. Longui, Fabio R. Faucz, Alice Santambrogio, James L. Mills, Nathan Pankratz, John Lane, Dominika Sosnowska, Tina Hodgson, Amanda L. Patist, Philippa Francis-West, Françoise Helmbacher, Constantine A. Stratakis, Cynthia L. Andoniadou

JCI Insight. 2020 Dec 3; 5(23): e134310. Published online 2020 Dec 3. doi: 10.1172/jci.insight.134310

PMCID:: PMC7714405

Article PDF–36M

Select item 771420714.

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

PLoS One. 2020; 15(12): e0242358. Published online 2020 Dec 3. doi: 10.1371/journal.pone.0242358

PMCID:: PMC7714207

Article PDF–538K

Select item 761237715.

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

Leyla Akin, Karine Rizzoti, Louise C Gregory, Beatriz Corredor, Polona Le Quesne Stabej, Hywel Williams, Federica Buonocore, Stephane Mouilleron, Valeria Capra, Sinead M McGlacken-Byrne, Gabriel Á Martos-Moreno, Dimitar N. Azmanov, Mustafa Kendirci, Selim Kurtoglu, Jenifer P. Suntharalingham, Christophe Galichet, Stefano Gustincich, Velibor Tasic, John C. Achermann, Andrea Accogli, Aleksandra Filipovska, Anatoly Tuilpakov, Mohamad Maghnie, Zoran Gucev, Z. Burcin Gonen, Luis A Pérez-Jurado, Iain Robinson, Robin Lovell Badge, Jesús Argente, Mehul T Dattani

Genet Med. Author manuscript; available in PMC 2022 Feb 16.

Published in final edited form as: Genet Med. 2022 Feb 1; 24(2): 384–397. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.09.019

PMCID:: PMC7612377

Article PDF–1.1M

Select item 749913116.

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek

J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 319–328. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2019.2019.0142

PMCID:: PMC7499131

Article PDF–664K

Select item 749648217.

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

Eline A. Verberne, Sonja Faries, Marcel M. A. M. Mannens, Alex V. Postma, Mieke M. van Haelst

Am J Med Genet A. 2020 Aug; 182(8): 1952–1956. Published online 2020 May 28. doi: 10.1002/ajmg.a.61632

Correction in:: EMBO Mol Med. 2020 Sep 7; 12(9): e13132.

Correction in:: EMBO Mol Med. 2020 Sep 7; 12(9): e13133.

PMCID:: PMC7496482

Article PDF–3.9M

Select item 729140418.

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

Ziqin Liu, Xiaobo Chen

J Clin Res Pediatr Endocrinol. 2020 Jun; 12(2): 212–217. Published online 2020 Jun 3. doi: 10.4274/jcrpe.galenos.2019.2018.0309

PMCID:: PMC7291404

Article PDF–667K

Select item 713853719.

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Xiaonan Liu, Nina Brandstack, Andrew J Buckton, Tiina Laine, Johanna Känsäkoski, Matti Hero, Päivi J Miettinen, Markku Varjosalo, Emma Wakeling, Mehul T Dattani, Taneli Raivio

J Clin Endocrinol Metab. 2020 Jun; 105(6): 1748–1758. Published online 2020 Feb 15. doi: 10.1210/clinem/dgaa078

PMCID:: PMC7138537

Article

Select item 687833620.

Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

Ahmad Kautsar, Jan M. Wit, Aman Pulungan

J Clin Res Pediatr Endocrinol. 2019 Dec; 11(4): 426–431. Published online 2019 Nov 22. doi: 10.4274/jcrpe.galenos.2019.2018.0305

PMCID:: PMC6878336

Article PDF–1.5M

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