Apellaniz-Ruiz M - Search Results

1

Characterization of the Common Genetic Variation in the Spanish Population of Navarre.

Maillo A, Huergo E, Apellániz-Ruiz M, Urrutia-Lafuente E, Miranda M, Salgado J, Pasalodos-Sanchez S, Delgado-Mora L, Teijido Ó, Goicoechea I, Carmona R, Perez-Florido J, Aquino V, Lopez-Lopez D, Peña-Chilet M, Beltran S, Dopazo J, Lasa I, Beloqui JJ, Nagen-Scheme, Alonso Á, Gomez-Cabrero D. Maillo A, et al. Among authors: apellaniz ruiz m. Genes (Basel). 2024 May 4;15(5):585. doi: 10.3390/genes15050585. Genes (Basel). 2024. PMID: 38790214

2

Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components.

Thorner PS, Chong AL, Apellaniz-Ruiz M, Benlimame N, Marrano P, Brimo F, Shuangshoti S, Shuangshoti S, Foulkes WD. Thorner PS, et al. Among authors: apellaniz ruiz m. Am J Surg Pathol. 2024 Jun 1;48(6):733-741. doi: 10.1097/PAS.0000000000002209. Epub 2024 Mar 28. Am J Surg Pathol. 2024. PMID: 38539053

3

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Sivera R, Pelayo-Negro AL, Jericó I, Domínguez-González C, Horga A, Rodriguez De Rivera FJ, Gallardo E, Tembl JI, Bermejo-Guerrero L, Pagola Lorz MI, Azorín I, Cordoba M, Fenollar-Cortés MDM, Millet E, Vilchez JJ, Espinós C, Apellániz-Ruiz M, Sevilla T. Sivera R, et al. Among authors: apellaniz ruiz m. Neurology. 2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. Neurology. 2024. PMID: 38513194

4

Teratoma-associated and so-called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features.

Kommoss FKF, Chong AS, Apellaniz-Ruiz M, Turashvili G, Park KJ, Hanley K, Valera ET, von Deimling A, Vujanic G, McCluggage WG, Foulkes WD. Kommoss FKF, et al. Among authors: apellaniz ruiz m. Histopathology. 2024 Mar;84(4):683-696. doi: 10.1111/his.15116. Epub 2023 Dec 12. Histopathology. 2024. PMID: 38084641

5

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.

Apellaniz-Ruiz M, Sabbaghian N, Chong AL, de Kock L, Cetinkaya S, Bayramoğlu E, Dinjens WNM, McCluggage WG, Wagner A, Yilmaz AA, Foulkes WD. Apellaniz-Ruiz M, et al. Fam Cancer. 2023 Oct;22(4):487-493. doi: 10.1007/s10689-023-00336-1. Epub 2023 May 30. Fam Cancer. 2023. PMID: 37248399 Free PMC article.

6

Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated With DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs.

McCluggage WG, Rivera B, Chong AS, Clarke BA, Schultz KAP, Dehner LP, Tchrakian N, Apellaniz-Ruiz M, Gilks CB, Kommoss F, Stewart CJR, Foulkes WD. McCluggage WG, et al. Among authors: apellaniz ruiz m. Am J Surg Pathol. 2023 Apr 1;47(4):490-496. doi: 10.1097/PAS.0000000000002010. Epub 2022 Dec 30. Am J Surg Pathol. 2023. PMID: 36583307

7

Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1.

Chong AS, Apellaniz-Ruiz M, de Kock L, Bouron-Dal Soglio D, Doyle WR, Priest JR, Rivera B, Foulkes WD. Chong AS, et al. Among authors: apellaniz ruiz m. J Med Genet. 2022 Jul;59(7):723-726. doi: 10.1136/jmedgenet-2021-107887. Epub 2021 Sep 20. J Med Genet. 2022. PMID: 34544839 No abstract available.

8

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

Apellaniz-Ruiz M, McCluggage WG, Foulkes WD. Apellaniz-Ruiz M, et al. Genes Chromosomes Cancer. 2021 Mar;60(3):217-233. doi: 10.1002/gcc.22913. Epub 2020 Nov 19. Genes Chromosomes Cancer. 2021. PMID: 33135284 Review.

9

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.

Yoon JY, Apellaniz-Ruiz M, Chong AL, Slim Z, Salfinger SG, Clarke BA, Stewart CJR, Foulkes WD, McCluggage WG. Yoon JY, et al. Among authors: apellaniz ruiz m. Int J Gynecol Pathol. 2021 Sep 1;40(5):435-440. doi: 10.1097/PGP.0000000000000718. Int J Gynecol Pathol. 2021. PMID: 33021556

10

Evaluation of molecular analysis in challenging ovarian sex cord-stromal tumours: a review of 50 cases.

Stewart CJR, Amanuel B, De Kock L, Apellaniz-Ruiz M, Carrello A, Giardina T, Grieu-Iacopetta F, Thomas MA, Foulkes WD. Stewart CJR, et al. Among authors: apellaniz ruiz m. Pathology. 2020 Oct;52(6):686-693. doi: 10.1016/j.pathol.2020.06.008. Epub 2020 Aug 9. Pathology. 2020. PMID: 32782216

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