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Select item 105220801.

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

Carla Costa, Eduarda Coutinho, Rita Santos-Silva, Cíntia Castro-Correia, Manuel Carlos Lemos, Manuel Fontoura

Arch Endocrinol Metab. 2020 Jul-Aug; 64(4): 487–491. Published online 2020 Mar 30. doi: 10.20945/2359-3997000000231

PMCID:: PMC10522080

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Select item 104787542.

CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression

Athanasia Stathopoulou, Ping Wang, Charlotte Thellier, Robert G Kelly, Deyou Zheng, Peter J Scambler

Cardiovasc Res. 2023 Aug; 119(11): 2089–2105. Published online 2023 Apr 13. doi: 10.1093/cvr/cvad059

Correction in:: Cardiovasc Res. 2023 Jul 3

PMCID:: PMC10478754

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Select item 103276673.

Generalized keratosis pilaris induced by testosterone injections in a patient with CHARGE syndrome

Fares Abdulmajed Alkhayal, Rima Bin Fadliah, Sarah Alasgah, Raed Almutiri, Yasser alqubaisy

Dermatol Reports. 2023 Jun 7; 15(2): 9661. Published online 2023 Apr 21. doi: 10.4081/dr.2023.9661

PMCID:: PMC10327667

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Select item 102733424.

Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome

Alex P. A. Donovan, Lauren Rosko, Jacob Ellegood, Yushi Redhead, Jeremy B. A. Green, Jason P. Lerch, Jeffrey K. Huang, M. Albert Basson

J Anat. 2023 Jul; 243(1): 51–65. Published online 2023 Mar 13. doi: 10.1111/joa.13856

PMCID:: PMC10273342

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Select item 102421845.

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain‐dependent

Dana R. Hodorovich, Patrick M. Lindsley, Austen A. Berry, Derek F. Burton, Kurt C. Marsden

Genes Brain Behav. 2023 Jun; 22(3): e12839. Published online 2023 Jan 30. doi: 10.1111/gbb.12839

PMCID:: PMC10242184

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Select item 102103286.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda

BMC Endocr Disord. 2023; 23: 118. Published online 2023 May 25. doi: 10.1186/s12902-023-01373-8

PMCID:: PMC10210328

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Select item 102055987.

The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import

Sephora Sallis, Félix-Antoine Bérubé-Simard, Benoit Grondin, Elizabeth Leduc, Fatiha Azouz, Catherine Bélanger, Nicolas Pilon

Life Sci Alliance. 2023 Aug; 6(8): e202302133. Published online 2023 May 23. doi: 10.26508/lsa.202302133

PMCID:: PMC10205598

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Select item 101671718.

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

R. Onesimo, E. Sforza, V. Giorgio, D. Rigante, E. Kuczynska, C. Leoni, F. Proli, C. Agazzi, D. Limongelli, A. Cerchiari, M. Tartaglia, G. Zampino

Eur J Pediatr. 2023; 182(4): 1869–1877. Published online 2023 Feb 17. doi: 10.1007/s00431-023-04841-4

PMCID:: PMC10167171

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Select item 101283669.

合并喉气道病变的CHARGE综合征人工耳蜗植入

陈芳, 李为, 徐宏鸣, 倪坤, 范文焱, 李晓艳

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Nov 5; 35(11): 1018–1023. Chinese. doi: 10.13201/j.issn.2096-7993.2021.11.012

PMCID:: PMC10128366

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Select item 1012828610.

复杂畸形CHARGE综合征患儿人工耳蜗植入围手术期特点

林颖, 任寸寸, 樊小勤, 李薇, 丁忠家, 邱建华, 查定军

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Mar 3; 36(3): 198–204. Chinese. doi: 10.13201/j.issn.2096-7993.2022.03.009

PMCID:: PMC10128286

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Select item 994764811.

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza

Front Genet. 2023; 14: 1082100. Published online 2023 Feb 9. doi: 10.3389/fgene.2023.1082100

PMCID:: PMC9947648

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Select item 976849812.

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Yuhan Sun, S. Ram Kumar, Chee Ern David Wong, Zhiyu Tian, Haipeng Bai, J. Gage Crump, Ruchi Bajpai, Ching Ling Lien

Front Cell Dev Biol. 2022; 10: 1030587. Published online 2022 Dec 7. doi: 10.3389/fcell.2022.1030587

PMCID:: PMC9768498

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Select item 975382213.

Семейный случай гипогонадотропного гипогонадизма как проявление синдрома CHARGE

Д. А. Хабибуллина, Н. Ю. Калинченко, С. В. Егорова, Е. В. Васильев, В. М. Петров, А. Н. Тюльпаков

Probl Endokrinol (Mosk) 2021; 67(3): 68–72. Russian. Published online 2021 May 7. doi: 10.14341/probl12748

PMCID:: PMC9753822

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Select item 958208114.

CHARGE Syndrome and Comorbid Feeding Difficulties: A Summary of Outcomes following Behavior Analytic Treatment

Hallie M. Smith, Hailey Ripple, Alison M. Kozlowski, Kasee K. Stratton-Gadke, Peter Girolami

Behav Anal Pract. 2022 Sep; 15(3): 881–892. Published online 2022 Feb 4. doi: 10.1007/s40617-021-00674-5

PMCID:: PMC9582081

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Select item 956949915.

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome

Stephan C. Collins, Valerie E. Vancollie, Anna Mikhaleva, Christel Wagner, Rebecca Balz, Christopher J. Lelliott, Binnaz Yalcin

Int J Mol Sci. 2022 Oct; 23(19): 11509. Published online 2022 Sep 29. doi: 10.3390/ijms231911509

PMCID:: PMC9569499

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Select item 951204316.

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development

Laura A. Krueger, Ann C. Morris

Front Cell Dev Biol. 2022; 10: 994412. Published online 2022 Sep 8. doi: 10.3389/fcell.2022.994412

PMCID:: PMC9512043

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Select item 942959717.

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis

Andrea T. Thomas, Jane Waite, Caitlin A. Williams, Jeremy Kirk, Chris Oliver, Caroline Richards

J Neurodev Disord. 2022; 14: 49. Published online 2022 Aug 31. doi: 10.1186/s11689-022-09459-5

PMCID:: PMC9429597

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Select item 939290718.

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca, Maria Francesca Bedeschi

Ital J Pediatr. 2022; 48: 154. Published online 2022 Aug 20. doi: 10.1186/s13052-022-01341-3

PMCID:: PMC9392907

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Select item 935550719.

Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome

Xiangtao Wu, Liang Chen, Weihong Lu, Shaoru He, Xiaowen Li, Lingling Sun, Longjiang Zhang, Dejuan Wang, Ruigui Zhang, Yumei Liu, Yunxia Sun, Zhichun Feng, Victor Wei Zhang

Front Genet. 2022; 13: 852429. Published online 2022 Jul 22. doi: 10.3389/fgene.2022.852429