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Select item 110562571.

CHARGE syndrome with both primary and secondary hypogonadism

Yuki Yoshida, Soichiro Ogawa, Satoru Meguro, Akifumi Onagi, Ryo Tanji, Kanako Matsuoka, Seiji Hoshi, Junya Hata, Yuichi Sato, Hidenori Akaihata, Masao Kataoka, Motohide Uemura, Yoshiyuki Kojima

IJU Case Rep. 2024 May; 7(3): 197–200. Published online 2024 Jan 31. doi: 10.1002/iju5.12694

PMCID:: PMC11056257

Abstract Article PDF–705K

Select item 72683502.

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier, Laurence Vaivre-Douret

Orphanet J Rare Dis. 2020; 15: 136. Published online 2020 Jun 3. doi: 10.1186/s13023-020-01421-9

PMCID:: PMC7268350

Abstract Article PDF–1.2M

Select item 72717293.

CHARGE syndrome associated with de novo (I1460Rfs^*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

Cristina Gug, Eusebiu Vlad Gorduza, Adrian Lăcătuşu, Monica Adriana Vaida, Florin Bîrsăşteanu, Maria Puiu, Dorina Stoicănescu

Exp Ther Med. 2020 Jul; 20(1): 479–485. Published online 2020 Apr 23. doi: 10.3892/etm.2020.8683

PMCID:: PMC7271729

Abstract Article PDF–496K

Select item 73149164.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Zailong Qin, Jiasun Su, Mengting Li, Qi Yang, Shang Yi, Haiyang Zheng, Qiang Zhang, Fei Chen, Sheng Yi, Weiliang Lu, Wei Li, Limei Huang, Jing Xu, Yiping Shen, Jingsi Luo

Front Genet. 2020; 11: 592. Published online 2020 Jun 18. doi: 10.3389/fgene.2020.00592

PMCID:: PMC7314916

Abstract Article PDF–1021K

Select item 111658435.

Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness

Lynn Skei, Sigmund Skei, Timothy Hartshorne, Nils Inge Landrø

Orphanet J Rare Dis. 2024; 19: 230. Published online 2024 Jun 11. doi: 10.1186/s13023-024-03222-w

PMCID:: PMC11165843

Abstract Article PDF–1.3M

Select item 73809556.

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

Cheuk Lam Lau, Yuet Yee Chee, Brian Hon Yin Chung, Ming Sum Rosanna Wong

BMJ Case Rep. 2020; 13(7): e233037. Published online 2020 Jul 22. doi: 10.1136/bcr-2019-233037

PMCID:: PMC7380955

Abstract Article PDF–380K

Select item 74106167.

Clival Malformations in CHARGE Syndrome

E.S. Mahdi, M.T. Whitehead

AJNR Am J Neuroradiol. 2018 Jun; 39(6): 1153–1156. doi: 10.3174/ajnr.A5612

PMCID:: PMC7410616

Abstract Article PDF–880K

Select item 74107288.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

C.M. de Geus, J.E.H. Bergman, C.M.A. van Ravenswaaij-Arts, L.C. Meiners

AJNR Am J Neuroradiol. 2018 Oct; 39(10): 1938–1942. doi: 10.3174/ajnr.A5810

PMCID:: PMC7410728

Abstract Article PDF–453K

Select item 111206709.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 723796910.

Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report

Yifan Sun, Jingjing Sun, Na Li, Cheng Cai, Xiaohui Gong, Li Ma

Transl Pediatr. 2020 Apr; 9(2): 180–186. doi: 10.21037/tp.2020.03.09

PMCID:: PMC7237969

Abstract Article PDF–757K

Select item 1096551011.

Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description

Samantha Saenz Hinojosa, Carlos Reyes, Vanessa I. Romero

Heliyon. 2024 Mar 30; 10(6): e28024. Published online 2024 Mar 15. doi: 10.1016/j.heliyon.2024.e28024

PMCID:: PMC10965510

Abstract Article PDF–2.2M

Select item 777216612.

Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation

Batool Wael Alnahar, Ahmed M Alsheikh, Amani G Alruhaimi, Ibtesam A Abdulghani

Cureus. 2020 Dec; 12(12): e12291. Published online 2020 Dec 26. doi: 10.7759/cureus.12291

PMCID:: PMC7772166

Abstract Article PDF–764K

Select item 778411113.

Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

Yee Lin Lee, Luke Toh, Fabian Yap

J ASEAN Fed Endocr Soc. 2020; 35(1): 122–124. Published online 2020 Apr 20. doi: 10.15605/jafes.035.01.21

PMCID:: PMC7784111

Abstract Article PDF–634K

Select item 1094837314.

CHARGE syndrome with early fetal ear abnormalities: A case report

Yu Liang, Sijie He, Liuqiao Yang, Tao Li, Lijian Zhao, Cong‐xin Sun

Clin Case Rep. 2024 Mar; 12(3): e8670. Published online 2024 Mar 18. doi: 10.1002/ccr3.8670

PMCID:: PMC10948373

Abstract Article PDF–950K

Select item 796373115.

Head and Neck MRI Findings in CHARGE Syndrome

M.J. Hoch, S.H. Patel, D. Jethanamest, W. Win, G.M. Fatterpekar, J.T. Roland, Jr, M. Hagiwara

AJNR Am J Neuroradiol. 2017 Dec; 38(12): 2357–2363. doi: 10.3174/ajnr.A5297

PMCID:: PMC7963731

Abstract Article PDF–1.2M

Select item 799721916.

Prenatal Sonographic Features of CHARGE Syndrome

Kuntharee Traisrisilp, Wisit Chankhunaphas, Rekwan Sittiwangkul, Chureerat Phokaew, Vorasuk Shotelersuk, Theera Tongsong

Diagnostics (Basel) 2021 Mar; 11(3): 415. Published online 2021 Feb 28. doi: 10.3390/diagnostics11030415

PMCID:: PMC7997219

Abstract Article PDF–3.9M

Select item 1082612617.

Detailed analysis of inner ear malformations in CHARGE syndrome patients – correlation with audiological results and proposal for computed tomography scans evaluation methodology

Agata Szleper, Magdalena Lachowska, Tomasz Wojciechowski, Katarzyna Pronicka-Iwanicka

Braz J Otorhinolaryngol. 2024 Mar-Apr; 90(2): 101383. Published online 2023 Dec 23. doi: 10.1016/j.bjorl.2023.101383

PMCID:: PMC10826126

Abstract Article PDF–1.6M

Select item 692257218.

Modified transcanal cochlear implantation in CHARGE syndrome: A case report

Cheng-Yu Hsieh, Chuan-Hung Sun, Wei-Lin Lin, Giselle L. Gotamco, Chuan-Jen Hsu, Hung-Pin Wu

Medicine (Baltimore) 2019 Dec; 98(50): e18283. Published online 2019 Dec 16. doi: 10.1097/MD.0000000000018283

PMCID:: PMC6922572

Abstract Article PDF–277K

Select item 656557719.

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga

Mol Genet Genomic Med. 2019 Jun; 7(6): e730. Published online 2019 May 6. doi: 10.1002/mgg3.730

PMCID:: PMC6565577

Abstract Article PDF–468K

Select item 659102320.

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

Conny van Ravenswaaij-Arts, Donna M. Martin

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 397–406. Published online 2017 Nov 24. doi: 10.1002/ajmg.c.31592