Similar articles for PMID: 30166433

Year	Number of Results
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1

Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.

Shiran SI, Ben-Sira L, Elhasid R, Roth J, Tabori U, Yalon M, Constantini S, Dvir R. Shiran SI, et al. AJNR Am J Neuroradiol. 2018 Oct;39(10):1943-1946. doi: 10.3174/ajnr.A5766. Epub 2018 Aug 30. AJNR Am J Neuroradiol. 2018. PMID: 30166433 Free PMC article.

2

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.

Chhabda S, Sudhakar S, Mankad K, Jorgensen M, Carceller F, Jacques TS, Merve A, Aizpurua M, Chalker J, Garimberti E, D'Arco F. Chhabda S, et al. Childs Nerv Syst. 2021 Jul;37(7):2375-2379. doi: 10.1007/s00381-020-04986-9. Epub 2020 Nov 27. Childs Nerv Syst. 2021. PMID: 33247381

3

Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

Kerpel A, Yalon M, Soudack M, Chiang J, Gajjar A, Nichols KE, Patay Z, Shrot S, Hoffmann C. Kerpel A, et al. AJNR Am J Neuroradiol. 2020 May;41(5):904-910. doi: 10.3174/ajnr.A6512. Epub 2020 Apr 30. AJNR Am J Neuroradiol. 2020. PMID: 32354708 Free PMC article.

4

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

Shapira Rootman M, Goldberg Y, Cohen R, Kropach N, Keidar I, Friedland R, Dotan G, Konen O, Toledano H. Shapira Rootman M, et al. Clin Genet. 2020 Feb;97(2):296-304. doi: 10.1111/cge.13656. Epub 2019 Dec 4. Clin Genet. 2020. PMID: 31730237

5

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Wimmer K, Rosenbaum T, Messiaen L. Wimmer K, et al. Clin Genet. 2017 Apr;91(4):507-519. doi: 10.1111/cge.12904. Epub 2017 Jan 10. Clin Genet. 2017. PMID: 27779754 Review.

6

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241

7

Cerebral developmental venous anomalies in children with mismatch repair deficiency.

Kara B, Paksoy Y, Çağlayan AO, Seher N, Akbaş H, Köksal Y. Kara B, et al. Turk J Pediatr. 2022;64(6):1106-1116. doi: 10.24953/turkjped.2021.3921. Turk J Pediatr. 2022. PMID: 36583892 Free article.

8

Evaluation of sporadic intracranial cavernous malformations for detecting associated developmental venous anomalies: added diagnostic value of C-arm contrast-enhanced cone-beam CT to routine contrast-enhanced MRI.

Kocak B, Kizilkilic O, Zeynalova A, Korkmazer B, Kocer N, Islak C. Kocak B, et al. Eur Radiol. 2019 Feb;29(2):783-791. doi: 10.1007/s00330-018-5652-3. Epub 2018 Jul 31. Eur Radiol. 2019. PMID: 30066249

9

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Westdorp H, Kolders S, Hoogerbrugge N, de Vries IJM, Jongmans MCJ, Schreibelt G. Westdorp H, et al. Cancer Lett. 2017 Sep 10;403:159-164. doi: 10.1016/j.canlet.2017.06.018. Epub 2017 Jun 20. Cancer Lett. 2017. PMID: 28645564 Free article. Review.

10

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”. Bodo S, et al. Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25. Gastroenterology. 2015. PMID: 26116798 Free article.

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