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Select item 101344011.

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Sarah U. Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik, Courtney E. French, Anna Szuto, James J. Dowling, Ronald D. Cohn, F. Lucy Raymond, Basil T. Darras, David A. Williams, Sebastian Lunke, Zornitza Stark, David H. Rowitch, Pankaj B. Agrawal

JAMA Neurol. Author manuscript; available in PMC 2023 Apr 27.

Published in final edited form as: JAMA Neurol. 2022 Apr 1; 79(4): 405–413. doi: 10.1001/jamaneurol.2022.0067

PMCID:: PMC10134401

Abstract Article PDF–640K

Select item 49498362.

Zellweger syndrome: A cause of neonatal hypotonia and seizures

Abdelmoneim E. M. Kheir

Sudan J Paediatr. 2011; 11(2): 54–58.

PMCID:: PMC4949836

Abstract Article PDF–1013K

Select item 49262503.

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

Yan Wang, Wei Peng, Hong-Yan Guo, Hui Li, Jie Tian, Yu-Jing Shi, Xiao Yang, Yao Yang, Wan-Qiao Zhang, Xin Liu, Guan-Nan Liu, Tao Deng, Yi-Min Sun, Wan-li Xing, Jing Cheng, Zhi-Chun Feng

Sci Rep. 2016; 6: 29088. Published online 2016 Jun 29. doi: 10.1038/srep29088

PMCID:: PMC4926250

Abstract Article PDF–926K

Select item 42255834.

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar Magoulas, Anne Chun-Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro-Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard E. Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

Am J Hum Genet. 2014 Nov 6; 95(5): 579–583. doi: 10.1016/j.ajhg.2014.09.014

PMCID:: PMC4225583

Abstract Article PDF–389K

Select item 107793465.

Genetic Disorders Underlying Polyhydramnios and Congenital Hypotonia: Three Case Reports and a Review of the Literature

Niki Dermitzaki, Themistoklis Loukopoulos, Athanasios Zikopoulos, Anastasia Vatopoulou, Sofoklis Stavros, Chara Skentou

Cureus. 2023 Dec; 15(12): e50331. Published online 2023 Dec 11. doi: 10.7759/cureus.50331

PMCID:: PMC10779346

Abstract Article PDF–511K

Select item 104536596.

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Handan Bezirganoglu, Kubra Adanur Saglam

Children (Basel) 2023 Aug; 10(8): 1375. Published online 2023 Aug 11. doi: 10.3390/children10081375

PMCID:: PMC10453659

Abstract Article PDF–1.6M

Select item 103989127.

An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report

Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang, Xuemei Wu

BMC Med Genomics. 2023; 16: 181. Published online 2023 Aug 3. doi: 10.1186/s12920-023-01616-6

PMCID:: PMC10398912

Abstract Article PDF–898K

Select item 103160948.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review

Zhongwen Huang, Wei Lu, Ping Zhang, Yulan Lu, Liping Chen, Wenqing Kang, Lin Yang, Gang Li, Jitao Zhu, Bingbing Wu, Wenhao Zhou, Huijun Wang

Ann Transl Med. 2023 Jun 30; 11(9): 312. Published online 2023 May 31. doi: 10.21037/atm-22-4396

PMCID:: PMC10316094

Abstract Article PDF–842K

Select item 102998739.

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome

Razan Abduljalil, Hadhami Ben Turkia, Aysha Fakhroo, Cristina Skrypnyk

Case Reports Hepatol. 2023; 2023: 4514552. Published online 2023 Jun 20. doi: 10.1155/2023/4514552

PMCID:: PMC10299873

Abstract Article PDF–195K

Select item 1028515210.

A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report

Qian Zhang, Zhen Qin, Ruolan Hu, Yifei Li, Fan Yang, Jinrong Li

Front Med (Lausanne) 2023; 10: 1180337. Published online 2023 Jun 8. doi: 10.3389/fmed.2023.1180337

PMCID:: PMC10285152

Abstract Article PDF–1.5M

Select item 1027540911.

Efficacy and safety of ketamine for neonatal refractory status epilepticus: case report and systematic review

Jacopo Norberto Pin, Letizia Leonardi, Margherita Nosadini, Maria Elena Cavicchiolo, Chiara Guariento, Anna Zarpellon, Giorgio Perilongo, Alessia Raffagnato, Irene Toldo, Eugenio Baraldi, Stefano Sartori

Front Pediatr. 2023; 11: 1189478. Published online 2023 Jun 2. doi: 10.3389/fped.2023.1189478

PMCID:: PMC10275409

Abstract Article PDF–502K

Select item 1021496812.

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

Fatma Özgüç Çömlek, Selma Demir, Hakan Gürkan, Mustafa İnan, Atakan Sezer, Emine Dilek, Filiz Tütüncüler Kökenli

Pediatr Endocrinol Diabetes Metab. 2022 Jun; 28(2): 168–174. Published online 2022 Mar 31. doi: 10.5114/pedm.2022.115070

PMCID:: PMC10214968

Abstract Article PDF–1.1M

Select item 1002462113.

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Deepa Banker, Bhavdeep Mungala, Zankhana Parekh, Shachi Ganatra, Vimal Maheshwari, Yashica Raj, Utsav Patel, Digant Patel, Kishan Chamar, Vasu Solanki

Case Rep Pediatr. 2023; 2023: 2275582. Published online 2023 Mar 11. doi: 10.1155/2023/2275582

PMCID:: PMC10024621

Abstract Article PDF–1.2M

Select item 985974514.

Impact of the Presence Anti-SARS-CoV-2 IgA in the Colostrum of Women Infected by COVID-19 During the Pregnancy in Neonatal Clinical Outcomes: A Cross-Sectional Study

Letícia Veríssimo Dutra, Mariliza Henrique Silva, Cibele Wolf Lebrão, Fernando Luiz Affonso-Fonseca, Fabíola Isabel Suano-Souza

Matern Child Health J. 2023; 27(4): 737–746. Published online 2023 Jan 21. doi: 10.1007/s10995-022-03553-9

PMCID:: PMC9859745

Abstract Article PDF–550K

Select item 984504715.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Elizaveta Makarova, Nicole R. Legro, Ermal Aliu

Case Rep Genet. 2023; 2023: 1581876. Published online 2023 Jan 10. doi: 10.1155/2023/1581876

PMCID:: PMC9845047

Abstract Article PDF–272K

Select item 939290716.

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

Abstract Article PDF–791K

Select item 933595817.

Neonatal cardiac tamponade, a life-threatening complication secondary to peripherally inserted central catheter: a case report

Mohammad Reza Zarkesh, Mokaram Haghjoo

J Med Case Rep. 2022; 16: 305. Published online 2022 Jul 28. doi: 10.1186/s13256-022-03506-4

PMCID:: PMC9335958

Abstract Article PDF–1023K

Select item 918626118.

Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress

Beena D Agarwal, Satya Mohapatra, Sumedha Singh, Vijay Guduru, Soumya R Nayak

Cureus. 2022 May; 14(5): e24907. Published online 2022 May 11. doi: 10.7759/cureus.24907

PMCID:: PMC9186261

Abstract Article PDF–516K

Select item 916929119.

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature

Francesco Baldo, Laura Morra, Agnese Feresin, Flavio Faletra, Yasmin Al Naber, Luigi Memo, Laura Travan

Ital J Pediatr. 2022; 48: 85. Published online 2022 Jun 6. doi: 10.1186/s13052-022-01281-y

PMCID:: PMC9169291

Abstract Article PDF–1.2M

Select item 909906620.

Association of Maternal Obesity and Neonatal Hypoxic-Ischemic Encephalopathy

Meredith Monaco-Brown, Upender Munshi, Michael Joseph Horgan, Jamie L. Gifford, Rubia Khalak

Front Pediatr. 2022; 10: 850654. Published online 2022 Apr 29. doi: 10.3389/fped.2022.850654

PMCID:: PMC9099066

Abstract Article PDF–936K

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