Síndrome de Usher II (Usher Syndrome II)

 

Review of genotype-phenotype correlations in Usher syndrome

Eric Nisenbaum, Torin P. Thielhelm, Aida Nourbakhsh et al

Ear Hear. 2022 Jan-Feb; 43(1): 1–8

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613301/

 

A review of CRISPR tools for treating Usher syndrome: applicability, safety, efficiency, and in vivo delivery

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2023 Apr; 24(8): 7603

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10146473/

 

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

Jessica Schäfer, Nicole Wenck, Katharina Janik et al

Front Cell Dev Biol. 2023; 11: 1130058

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944737/

 

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanism toa new classification

Sedigheh Delmaghani, Aziz El-Amraoui

Hum Genet. 2022; 141(3-4): 709–735

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034986/

 

Usher syndrome

Alessandro Castiglione, Claes Möller

Audiol Res. 2022 Feb; 12(1): 42–6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788290/

 

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Hedwig M. Velde, Janine Reurink, Sebastian Held,et al

Hum Genet. 2022; 141(11): 1723–1738

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556359/

 

Novel biallelic USH2A variants in a patient with Usher syndrome type IIA – a case report

Su Ling Young, Chloe M. Stanton, Benjamin J. Livesey,et al

BMC Ophthalmol. 2022; 22: 140

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962547/

 

Phenotypic and genetic characteristics in a cohort of patients with Usher genes

Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, et al

Genes (Basel) 2022 Aug; 13(8): 1423

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407802/

 

Decreased activity of piriform córtex and orbitofrontal hyperactivation in Usher syndrome, a human disorders of ciliary dysfunction

Sónia Ferreira, Isabel Catarina Duarte, André Paula, et al

Brain Imaging Behav. 2022; 16(3): 1176–1185

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107447/

 

Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

Lilián Galbis‐Martínez, Fiona Blanco‐Kelly, Gema García‐García, et al

Acta Ophthalmol. 2021 Dec; 99(8): 922–930

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540557/

 

 

Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome

Nicholas Fowler, May El-Rashedy, Emad Chishti, Craig W. Vander Kooi, Ramiro Maldonado

Ophthalmic Genet. 2021 Jun; 42(3): 338–343

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8154670/

 

Usher syndrome belongs to the genetic diseases associated with radiosensitivity: influence of the ATM protein kinase

Joëlle Al-Choboq, Mélanie L. Ferlazzo, Laurène Sonzogni, et al

Int J Mol Sci. 2022 Feb; 23(3): 1570

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836140/

 

Usher syndrome: clinical features, molecular genetics and advancing therapeutics

M Toms, W Pagarkar, |M Moosajee et al

Therapeutics Advances in Ophthalmology september 2020

https://journals.sagepub.com/doi/10.1177/2515841420952194

 

Síndrome de Usher I (Usher Syndrome I)

Arquivos Blog Internet Médica – julho 2018

https://internetmedica.com.br/sindrome-de-usher-usher-syndrome/

 

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■ Acesse ARQUIVO e encontre os temas incluídos no Blog a cada mês, desde maio 2017

■ Blog Internet Médica – www.internetmedica.com.br

■ Médico Responsável: Dr Paulo Fernando Leite

CRMMG: 7026

Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Junho 2023

Câncer Gastrointestinal Hereditário (Hereditary Gastrointestinal Cancer 2023)

 

Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review

Toni T Seppälä, Richard A Burkhart, Bryson W Katona

BJS Open. 2023 Jun; 7(3): zrad023

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172688/

 

Genetics, genomics and emerging molecular therapies of pancreatic cancer

Jakub Liu, Magdalena Mroczek, Anna Mach, et al

Cancers (Basel) 2023 Feb; 15(3): 779.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9913594/

 

Genetic predisposition to colorectal cancer: How many and whic gene to test?

Francesca Rebuzzi, Paola Ulivi, Gianluca Tedaldi

Int J Mol Sci. 2023 Feb; 24(3): 2137

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916931/

 

Hereditary gastric cancer: single-gene or multigene panel testing? A mono-institutional experience

Mariarosaria Calvello, Monica Marabelli, Sara Gandini, et al

Genes (Basel) 2023 May; 14(5): 1077

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218517/

 

Genetic heterogeneity of colorectal cancer and the microbiome

Marina A Senchukova

World J Gastrointest Oncol. 2023 Mar 15; 15(3): 443–463

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10052667/

 

Hereditary cancer syndromes

Evgeny N Imyanitov, Ekaterina S Kuligina, Anna P Sokolenko et al

World J Clin Oncol. 2023 Feb 24; 14(2): 40–68

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993141/

 

Hereditary cancer syndromes: a comprehensive review with a visual tool

Mattia Garutti, Lorenzo Foffano, Roberta Mazzeo et al

Genes (Basel) 2023 May; 14(5): 1025

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218093/

 

■ Acesso gratuito

■ Um dos Blog de Medicina mais acessado em todo o mundo. Mais de 900 temas médicos já disponíveis online

■ Use o mecanismo de busca – PESQUISAR na home page.

■ Acesse ARQUIVO e encontre os temas incluídos no Blog a cada mês, desde maio 2017

■ Blog Internet Médica – www.internetmedica.com.br

■ Médico Responsável: Dr Paulo Fernando Leite

CRMMG: 7026

Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Junho 2023