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Select item 96177211.

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)

Rami A. Misk, Lama Qawasme, Fawzy M. Abunejma, Bahaa Ibrahim Abu Rahma, Ehab Mohammad Abuawwad, Raja Imad Abu Iram, Abdulrahman Hussein Karaki, Tareq Z. Alzughayyar, Jihad Samer Zalloum

Case Rep Pediatr. 2022; 2022: 3555532. Published online 2022 Oct 22. doi: 10.1155/2022/3555532

PMCID:: PMC9617721

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Select item 93639072.

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2

Iram Sehrish, Tella Sunitha, Avvari Srilekha, Aayushi Gupta, Pratibha Nallari, Ananthapur Venkateshwari

J Reprod Infertil. 2022 Apr-Jun; 23(2): 135–138. doi: 10.18502/jri.v23i2.8999

PMCID:: PMC9363907

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Select item 74644703.

Lights and Shadows of TORCH Infection Proteomics

Janaina Macedo-da-Silva, Claudio Romero Farias Marinho, Giuseppe Palmisano, Livia Rosa-Fernandes

Genes (Basel) 2020 Aug; 11(8): 894. Published online 2020 Aug 5. doi: 10.3390/genes11080894

PMCID:: PMC7464470

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Select item 65285864.

Seasonal influence on TORCH infection and analysis of multi‐positive samples with indirect immunofluorescence assay

Lu Chen, Jingrui Liu, Lei Shi, Yang Song, Yujie Song, Yang Gao, Ying Dong, Lin Li, Min Shen, Yanhong Zhai, Zheng Cao

J Clin Lab Anal. 2019 May; 33(4): e22828. Published online 2019 Jan 21. doi: 10.1002/jcla.22828

PMCID:: PMC6528586

Article PubReader PDF–476K Cite

Select item 55329465.

Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy–Walker malformation

Ashis Patnaik, Sudhansu Sekhar Mishra, Srikanta Das

Asian J Neurosurg. 2017 Jul-Sep; 12(3): 541–543. doi: 10.4103/1793-5482.145162

PMCID:: PMC5532946

Article PubReader PDF–546K Cite

Select item 49250176.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije E.C. Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D. Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H. Lequin, Johan M. Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W.W. Brouwer, Wilfred F.J. Van IJcken, Marta Martin-Fernandez, Irenaeus de Coo, Jeroen Dudink, Femke A.T. de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J. Crow, Frans W. Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M.S. Mancini

J Exp Med. 2016 Jun 27; 213(7): 1163–1174. doi: 10.1084/jem.20151529

PMCID:: PMC4925017

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Select item 41158967.

Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome

Derya Berk, Alparslan Kuş, Tülay Şahin, Mine Solak, Kamil Toker

Balkan Med J. 2013 Sep; 30(3): 321–322. Published online 2013 Sep 1. doi: 10.5152/balkanmedj.2013.6960

PMCID:: PMC4115896

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Select item 35277758.

Prevalence of Serum Antibodies to TORCH Infection in and Around Varanasi, Northern India

M.R. Sen, B.N. Shukla, Banerjee Tuhina

J Clin Diagn Res. 2012 Nov; 6(9): 1483–1485. Published online 2012 Nov 15. doi: 10.7860/JCDR/2012/4550.2538

PMCID:: PMC3527775

Article PubReader PDF–78K Cite

Select item 69273109.

Performance of Zika Assays in the Context of Toxoplasma gondii, Parvovirus B19, Rubella Virus, and Cytomegalovirus (TORCH) Diagnostic Assays

Bettie Voordouw, Barry Rockx, Thomas Jaenisch, Pieter Fraaij, Philippe Mayaud, Ann Vossen, Marion Koopmans

Clin Microbiol Rev. 2020 Jan; 33(1): e00130-18. Published online 2019 Dec 11. doi: 10.1128/CMR.00130-18

PMCID:: PMC6927310

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Select item 502379610.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

M Musleh, G Hall, I C Lloyd, R L Gillespie, S Waller, S Douzgou, J Clayton-Smith, E Kehdi, G C M Black, J Ashworth

Eye (Lond) 2016 Sep; 30(9): 1175–1181. Published online 2016 Jun 17. doi: 10.1038/eye.2016.105

PMCID:: PMC5023796

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Select item 299737111.

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam Ali, Lihadh Al-Gazali, Christopher A. Walsh

Am J Hum Genet. 2010 Dec 10; 87(6): 882–889. doi: 10.1016/j.ajhg.2010.10.026

PMCID:: PMC2997371

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Select item 293334412.

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

Mary C. O'Driscoll, Sarah B. Daly, Jill E. Urquhart, Graeme C.M. Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada Abdel-Salam, Maha Zaki, Nicole I. Wolf, Roger L. Ladda, Susan Sell, Stefano D'Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

Am J Hum Genet. 2010 Sep 10; 87(3): 354–364. doi: 10.1016/j.ajhg.2010.07.012

PMCID:: PMC2933344

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Select item 173539513.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Y Crow, D Black, M Ali, J Bond, A Jackson, M Lefson, J Michaud, E Roberts, J Stephenson, C Woods, P Lebon

J Med Genet. 2003 Mar; 40(3): 183–187. doi: 10.1136/jmg.40.3.183

PMCID:: PMC1735395

Summary PDF–299K Cite

Select item 1042786514.

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

Hongyun Zhang, Siyuan Linpeng, Yanling Teng, Can Peng, Desheng Liang, Zhuo Li, Lingqian Wu

Front Pediatr. 2023; 11: 1177137. Published online 2023 Aug 1. doi: 10.3389/fped.2023.1177137

PMCID:: PMC10427865

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Select item 1012361815.

A Cross-Sectional Survey of Pediatric Infectious Disease Physicians’ Approach to Congenital Cytomegalovirus Infection

Chieko Hoki, Michelle White, Megan H. Pesch, Ann J. Melvin, Albert H. Park

Int J Neonatal Screen. 2023 Jun; 9(2): 17. Published online 2023 Mar 24. doi: 10.3390/ijns9020017

PMCID:: PMC10123618

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Select item 993330716.

The impact of migration-related characteristics on the risk of TORCH infections among women of childbearing age: a population-based study in southern China

Rui Li, Lu Han, Wenxue Xiong, Wenjuan Wang, Chaonan Fan, Mingzhen Li, Xiaohua Liu, Li Ling

BMC Public Health. 2023; 23: 351. Published online 2023 Feb 16. doi: 10.1186/s12889-023-15238-1

PMCID:: PMC9933307

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Select item 960487917.

The epidemiology and disease burden of congenital TORCH infections among hospitalized children in China: A national cross-sectional study

Linlin Zhang, Xinyu Wang, Mengjia Liu, Guoshuang Feng, Yueping Zeng, Ran Wang, Zhengde Xie

PLoS Negl Trop Dis. 2022 Oct; 16(10): e0010861. Published online 2022 Oct 14. doi: 10.1371/journal.pntd.0010861

PMCID:: PMC9604879

Article PubReader PDF–913K Cite

Select item 958679218.

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa

Case Rep Genet. 2022; 2022: 1594364. Published online 2022 Oct 14. doi: 10.1155/2022/1594364

PMCID:: PMC9586792

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Select item 912117019.

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

Magda Carneiro-Sampaio, Adriana Almeida de Jesus, Silvia Yumi Bando, Carlos Alberto Moreira-Filho

Front Pediatr. 2022; 10: 891343. Published online 2022 May 6. doi: 10.3389/fped.2022.891343

PMCID:: PMC9121170

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Select item 869392820.

Newborn Hearing Screening Results of Infants Born To Mothers Who Had COVID-19 Disease During Pregnancy: A Retrospective Cohort Study

Z. Asli Oskovi-Kaplan, A. Seval Ozgu-Erdinc, Gul Nihal Buyuk, U. Yasemin Sert-Dinc, Cavide Ali-Algan, Bariş Demir, Dilek Sahin, H. Levent Keskin, Cüneyt Tayman, Özlem Moraloglu-Tekin

Ear Hear. 2022 Jan-Feb; 43(1): 41–44. Published online 2021 Nov 19. doi: 10.1097/AUD.0000000000001167

PMCID:: PMC8693928

Article PubReader PDF–255K Cite

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