U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 570

1.
Novel therapeutic perspectives in Noonan syndrome and RASopathies
Céline Saint-Laurent, Laurène Mazeyrie, Armelle Yart, Thomas Edouard
Eur J Pediatr. 2024; 183(3): 1011–1019. Published online 2023 Oct 21. doi: 10.1007/s00431-023-05263-y
PMCID:
PMC10951041
ArticlePDF–977K
2.
Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review
Daniel Blumenthal, Braeden Lovett, James Leonard, Sixian Wang, Melissa Blumgart, Michael Hoa
Otol Neurotol Open. 2022 Mar; 2(1): e009. Published online 2022 Mar 8. doi: 10.1097/ONO.0000000000000009
Correction in:
Otol Neurotol Open. 2023 Mar; 3(1): e031.
PMCID:
PMC10950184
ArticlePDF–955K
3.
Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review: Erratum
Otol Neurotol Open. 2023 Mar; 3(1): e031. Published online 2023 Mar 23. doi: 10.1097/ONO.0000000000000031
Corrects:
Otol Neurotol Open. 2022 Mar; 2(1): e009.
PMCID:
PMC10950141
CorrectionPDF–137K
4.
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz
J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 76–83. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-5-16
PMCID:
PMC10938517
ArticlePDF–503K
5.
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China
Qinchang Chen, Dian Hong, Yulu Huang, Zhiwei Zhang, Shushui Wang
Heliyon. 2024 Mar 15; 10(5): e27038. Published online 2024 Feb 28. doi: 10.1016/j.heliyon.2024.e27038
PMCID:
PMC10920370
ArticlePDF–364K
6.
Development of Calvarial Bone Osteomyelitis in a Noonan Syndrome Patient Following Fronto-Orbital Advancement of Craniosynostosis: A Novel Technique of Treatment Using Povidone and Hydrogen Peroxide Solutions
Ikhlass S Altweijri, Taghreed R Alhumsi, Abdullah S Alsahli, Faisal A Al Jabr, Dana W Alkuwaity
Cureus. 2024 Jan; 16(1): e52719. Published online 2024 Jan 22. doi: 10.7759/cureus.52719
PMCID:
PMC10879737
ArticlePDF–1.2M
7.
Maxillary Odontoma Associated With Noonan Syndrome: A Case Report
Hussam Z Alsalem, Munira Alshahrani, Bader Fatani, Ali A Alshehri, Rana M Almutairi, Raghad F Almuqrin
Cureus. 2024 Jan; 16(1): e52699. Published online 2024 Jan 21. doi: 10.7759/cureus.52699
PMCID:
PMC10879728
ArticlePDF–855K
8.
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants
Carolin Knauer, Henrike Haltern, Eric Schoger, Sebastian Kügler, Lennart Roos, Laura C. Zelarayán, Gerd Hasenfuss, Wolfram-Hubertus Zimmermann, Bernd Wollnik, Lukas Cyganek
Mol Ther Nucleic Acids. 2024 Mar 12; 35(1): 102123. Published online 2024 Jan 23. doi: 10.1016/j.omtn.2024.102123
PMCID:
PMC10851011
ArticlePDF–5.7M
9.
Hashimoto’s Thyroiditis in Noonan Syndrome: A Case Report
Qaisar Ali Khan, Yaxel Levin-Carrion, Rohail Khan, Aleena Z Khan, Sumaira Saddiq, Vaishnavi Guddeti, Adithya Nadella, Amritpal Kooner, Ayiz Jan, Ameer M Farrukh
Cureus. 2024 Jan; 16(1): e51592. Published online 2024 Jan 3. doi: 10.7759/cureus.51592
PMCID:
PMC10836615
ArticlePDF–486K
10.
Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome
Yasuhiro Ichikawa, Hiroyuki Kuroda, Takeshi Ikegawa, Shun Kawai, Shin Ono, Ki-Sung Kim, Sadamitsu Yanagi, Kenji Kurosawa, Yoko Aoki, Mari Iwamoto, Hideaki Ueda
J Cardiovasc Dev Dis. 2024 Jan; 11(1): 10. Published online 2023 Dec 28. doi: 10.3390/jcdd11010010
PMCID:
PMC10816141
ArticlePDF–806K
11.
Rare Congenital Dissecting Thoracic Aortic Aneurysm in a Child with Noonan Syndrome: A Case Report
Siti Aishah Ahmad Maulana, Sharifah Huda Engku Alwi, Mohd Shafie Hashim, Rabiatul Adawiyah Abdul Rohim
Oman Med J. 2023 Nov; 38(6): e576. Published online 2023 Nov 30. doi: 10.5001/omj.2023.66
PMCID:
PMC10806284
ArticlePDF–1.3M
12.
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
Lan Zeng, Jin Wang, Hui Zhu, Yu Huang, Yi Deng, Ping Wei, Jing Nie, Bei Tang, Ai Chen, Shuyao Zhu
Mol Genet Genomic Med. 2024 Jan; 12(1): e2313. Published online 2023 Nov 9. doi: 10.1002/mgg3.2313
PMCID:
PMC10767593
ArticlePDF–2.4M
13.
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome
Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zhao
Mol Genet Genomic Med. 2024 Jan; 12(1): e2290. Published online 2023 Oct 3. doi: 10.1002/mgg3.2290
PMCID:
PMC10767430
ArticlePDF–8.9M
14.
A rare association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome
Wiem Boufrikha, Rim Rakez, Inaam Bizid, M.Maher Hadhri, Manel Njima, Sarra Boukhris, M.Adnene Laatiri
Leuk Res Rep. 2024; 21: 100404. Published online 2023 Dec 1. doi: 10.1016/j.lrr.2023.100404
PMCID:
PMC10750179
ArticlePDF–4.7M
15.
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
Natalia Braun-Walicka, Agnieszka Pluta, Tomasz Wolak, Edyta Maj, Agnieszka Maryniak, Monika Gos, Anna Abramowicz, Aleksandra Landowska, Ewa Obersztyn, Jerzy Bal
Genes (Basel) 2023 Dec; 14(12): 2173. Published online 2023 Dec 3. doi: 10.3390/genes14122173
PMCID:
PMC10742480
ArticlePDF–4.9M
16.
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong
J Clin Res Pediatr Endocrinol. 2023 Dec; 15(4): 438–443. Published online 2023 Nov 22. doi: 10.4274/jcrpe.galenos.2022.2021-12-24
PMCID:
PMC10683535
ArticlePDF–1.2M
17.
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant
Tatsuya Kawaguchi, Tohru Okanishi, Tetsuya Okazaki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Yuichi Yoshida, Noriko Miyake, Naomichi Matsumoto, Yoshihiro Maegaki
Yonago Acta Med. 2023 Nov; 66(4): 463–466. Published online 2023 Oct 19. doi: 10.33160/yam.2023.11.005
PMCID:
PMC10674059
ArticlePDF–1.4M
18.
Noonan syndrome: rhGH treatment and PTPN11 mutation
Xian Wu, Jiali Wu, Yi Yuan, Li Yang, Lirong Yu
Mol Genet Genomic Med. 2023 Nov; 11(11): e2266. Published online 2023 Aug 1. doi: 10.1002/mgg3.2266
PMCID:
PMC10655517
ArticlePDF–394K
19.
Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report
Marta Świerczyńska, Agnieszka Tronina, Anna Lorenc, Erita Filipek
Children (Basel) 2023 Oct; 10(10): 1643. Published online 2023 Sep 30. doi: 10.3390/children10101643
PMCID:
PMC10605920
ArticlePDF–6.2M
20.
Case report: Noonan syndrome with protein-losing enteropathy
Yang Ou, Jun-Chao Yuan, Yao Zheng, Jin-Man Zhang, Tian He, Zhi Liang, Yi-Kun Zhou
Front Genet. 2023; 14: 1237821. Published online 2023 Sep 27. doi: 10.3389/fgene.2023.1237821
PMCID:
PMC10565653
ArticlePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center