PMC Articles for MedGen (Select 543449) - PMC

John C Magnotto, Alessandra Mancini, Keisha Bird, Luciana Montenegro, Filiz Tütüncüler, Sidney A Pereira, Vitoria Simas, Leonardo Garcia, Stephanie A Roberts, Delanie Macedo, Melissa Magnuson, Priscila Gagliardi, Nelly Mauras, Selma F Witchel, Rona S Carroll, Ana Claudia Latronico, Ursula B Kaiser, Ana Paula Abreu

J Clin Endocrinol Metab. 2023 Jul; 108(7): 1646–1656. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad151

PMCID:: PMC10653150

Article

Select item 102438075.

MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity

Lydie Naulé, Alessandra Mancini, Sidney A. Pereira, Brandon M. Gassaway, John R. Lydeard, John C. Magnotto, Han Kyeol Kim, Joy Liang, Cynara Matos, Steven P. Gygi, Florian T. Merkle, Rona S. Carroll, Ana Paula Abreu, Ursula B. Kaiser

JCI Insight. 2023 Apr 24; 8(8): e164178. Published online 2023 Apr 24. doi: 10.1172/jci.insight.164178

PMCID:: PMC10243807

Article PDF–9.5M

Select item 102356026.

Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights

Ilaria Mascioli, Giulia Iapadre, Diletta Ingrosso, Giulio Di Donato, Cosimo Giannini, Vincenzo Salpietro, Francesco Chiarelli, Giovanni Farello

Front Endocrinol (Lausanne) 2023; 14: 1092252. Published online 2023 May 19. doi: 10.3389/fendo.2023.1092252

PMCID:: PMC10235602

Article PDF–1.7M

Select item 102332977.

Hypothalamic Overexpression of Makorin Ring Finger Protein 3 Results in Delayed Puberty in Female Mice

Stephanie A Roberts, Lydie Naulé, Soukayna Chouman, Tatyana Johnson, Marciana Johnson, Rona S Carroll, Victor M Navarro, Ursula B Kaiser

Endocrinology. 2022 Nov; 163(11): bqac132. Published online 2022 Aug 17. doi: 10.1210/endocr/bqac132

PMCID:: PMC10233297

Article

Select item 102263468.

Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening

Magdalena Banaszak-Ziemska, Elżbieta Małecka, Katarzyna Łacna, Maria Ginalska-Malinowska, Marek Niedziela

Pediatr Endocrinol Diabetes Metab. 2021 Dec; 27(4): 291–297. Published online 2021 Dec 30. doi: 10.5114/pedm.2021.109123

PMCID:: PMC10226346

Article PDF–528K

Select item 102185739.

McCune–Albright Syndrome: A Case Report and Review of Literature

Nicolas C. Nicolaides, Maria Kontou, Ioannis-Anargyros Vasilakis, Maria Binou, Evangelia Lykopoulou, Christina Kanaka-Gantenbein

Int J Mol Sci. 2023 May; 24(10): 8464. Published online 2023 May 9. doi: 10.3390/ijms24108464

PMCID:: PMC10218573

Article PDF–1.1M

Select item 1020478310.

Гонадотропинзависимое преждевременное половое развитие: молекулярно-генетические и клинические характеристики

Д. А. Хабибуллина, А. А. Колодкина, Т. В. Визеров, Н. А. Зубкова, О. Б. Безлепкина

Probl Endokrinol (Mosk) 2023; 69(2): 58–66. Russian. Published online 2023 May 11. doi: 10.14341/probl13215

PMCID:: PMC10204783

Article PDF–163K

Select item 1019826611.

Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications

Jesús Argente, Leo Dunkel, Ursula B Kaiser, Ana C Latronico, Alejandro Lomniczi, Leandro Soriano-Guillén, Manuel Tena-Sempere

Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Lancet Diabetes Endocrinol. 2023 Mar; 11(3): 203–216. Published online 2023 Jan 5. doi: 10.1016/S2213-8587(22)00339-4

PMCID:: PMC10198266

Article PDF–1.2M

Select item 988015412.

Methylation status of hypothalamic Mkrn3 promoter across puberty

Pavlos Fanis, Maria Morrou, Marios Tomazou, Kyriaki Michailidou, George M. Spyrou, Meropi Toumba, Nicos Skordis, Vassos Neocleous, Leonidas A. Phylactou

Front Endocrinol (Lausanne) 2022; 13: 1075341. Published online 2023 Jan 13. doi: 10.3389/fendo.2022.1075341

PMCID:: PMC9880154

Article PDF–4.9M

Select item 978241913.

Gut microbiota and its derived SCFAs regulate the HPGA to reverse obesity-induced precocious puberty in female rats

Li Wang, Hao Xu, Bin Tan, Qin Yi, Huiwen Liu, Hongrong Deng, Yunxia Chen, Rui Wang, Jie Tian, Jing Zhu

Front Endocrinol (Lausanne) 2022; 13: 1051797. Published online 2022 Dec 9. doi: 10.3389/fendo.2022.1051797

PMCID:: PMC9782419

Article PDF–9.6M

Select item 978043214.

Circulating levels of DLK1 and glucose homeostasis in girls with obesity: A pilot study

Stefania Palumbo, Giuseppina Rosaria Umano, Francesca Aiello, Grazia Cirillo, Emanuele Miraglia del Giudice, Anna Grandone

Front Endocrinol (Lausanne) 2022; 13: 1033179. Published online 2022 Dec 9. doi: 10.3389/fendo.2022.1033179

PMCID:: PMC9780432

Article PDF–409K

Select item 975705915.

A review of the genetics and epigenetics of central precocious puberty

Joshua Moise-Silverman, Lawrence A. Silverman

Front Endocrinol (Lausanne) 2022; 13: 1029137. Published online 2022 Dec 2. doi: 10.3389/fendo.2022.1029137

PMCID:: PMC9757059

Article PDF–1.2M

Select item 975614116.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872

PMCID:: PMC9756141

Article PDF–636K

Select item 975384817.

Клиническая и молекулярно-генетическая характеристика 3 семейных случаев гонадотропинзависимого преждевременного полового развития, обусловленного мутациями в гене <i>MKRN3</i>

Н. А. Зубкова, А. А. Колодкина, Н. А. Макрецкая, П. Л. Окороков, Т. В. Погода, Е. В. Васильев, В. М. Петров, А. Н. Тюльпаков

Probl Endokrinol (Mosk) 2021; 67(3): 55–61. Russian. Published online 2021 May 11. doi: 10.14341/probl12745

PMCID:: PMC9753848

Article PDF–259K

Select item 945152118.

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age

Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D’Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi

Front Endocrinol (Lausanne) 2022; 13: 975511. Published online 2022 Aug 24. doi: 10.3389/fendo.2022.975511

Correction in:: Front Endocrinol (Lausanne). 2023; 14: 1172736.

PMCID:: PMC9451521

Article PDF–439K

Select item 938770219.

Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia

Sara Costa, Lurdes Sampaio, Ana Berta Sousa, Chao Xing, Anil K Agarwal, Abhimanyu Garg

J Clin Endocrinol Metab. 2022 Sep; 107(9): 2433–2438. Published online 2022 Jul 20. doi: 10.1210/clinem/dgac406

PMCID:: PMC9387702

Article

Select item 928108020.

Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases

Zhuanzhuan Ai, Xiaoyun Zhu, Hong Chen, Ruimin Chen

BMC Pediatr. 2022; 22: 418. Published online 2022 Jul 14. doi: 10.1186/s12887-022-03474-0

PMCID:: PMC9281080

Article PDF–1.3M

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