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Page 1
Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.
Zahergivar A, Firouzabadi FD, Homayounieh F, Golagha M, Huda F, Biassou N, Shah R, Nikpanah M, Mirmomen M, Farhadi F, Dave RH, Shekhar S, Gahl WA, Estrada-Veras JI, Malayeri AA, O'Brien K. Zahergivar A, et al. Among authors: estrada veras ji. Clin Imaging. 2024 Nov;115:110281. doi: 10.1016/j.clinimag.2024.110281. Epub 2024 Sep 4. Clin Imaging. 2024. PMID: 39270429
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: estrada veras ji. Brain. 2024 Jun 4:awae175. doi: 10.1093/brain/awae175. Online ahead of print. Brain. 2024. PMID: 38833623
Corrigendum to "Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation" [Radiology Case Reports 19 (2024) 1866-1871].
Golagha M, Firouzabadi FD, Millo C, Nikpanah M, Ahlman MA, Dave RH, Estrada-Veras JI, O'Brien K, Malayeri AA. Golagha M, et al. Among authors: estrada veras ji. Radiol Case Rep. 2024 Mar 28;19(6):2576-2577. doi: 10.1016/j.radcr.2024.02.112. eCollection 2024 Jun. Radiol Case Rep. 2024. PMID: 38645546 Free PMC article.
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation.
Nikpanah M, Dehghani Firouzabadi F, Farhadi F, Mirmomen SM, Ahlman MA, Huda F, Millo C, Saboury B, Paschall AK, Gahl WA, Estrada-Veras JI, Turkbey E, Jones EC, O'Brien K, Malayeri AA. Nikpanah M, et al. Among authors: estrada veras ji. Clin Imaging. 2024 Feb;106:110067. doi: 10.1016/j.clinimag.2023.110067. Epub 2023 Dec 14. Clin Imaging. 2024. PMID: 38128404
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Martínez-López J, Márquez A, Pegoraro F, Ortiz-Fernández L, Acosta-Herrera M, Kerick M, Gelain E, Diamond EL, Durham BH, Abdel-Wahab O, Go RS, Koster MJ, Dagna L, Campochiaro C, Collin M, Milne P, Estrada-Veras JI, O'Brien K, Papo M, Cohen-Aubar F, Amoura Z, Haroche J, Martín J, Vaglio A. Martínez-López J, et al. Among authors: estrada veras ji. Arthritis Rheumatol. 2024 Jan;76(1):141-145. doi: 10.1002/art.42673. Epub 2023 Nov 7. Arthritis Rheumatol. 2024. PMID: 37561109
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: estrada veras ji. Nat Neurosci. 2022 Apr;25(4):458-473. doi: 10.1038/s41593-022-01043-3. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379995 Free PMC article.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
O'Brien K, Dave R, Shekhar S, Hannah-Shmouni F, Comis LE, Solomon BI, Chen M, Gahl WA, FitzGibbon E, Gochuico BR, Estrada-Veras JI. O'Brien K, et al. Among authors: estrada veras ji. J Natl Compr Canc Netw. 2021 Nov;19(11):1312-1318. doi: 10.6004/jnccn.2021.7096. J Natl Compr Canc Netw. 2021. PMID: 34781266 Free PMC article. Review.
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease.
Shekhar S, Irizarry-Caro JA, Sinaii N, Gahl WA, Estrada-Veras JI, Dave RH, Gochuico BR, Papadakis GZ, Patronas N, Stratakis CA, O'Brien K, Hannah-Shmouni F. Shekhar S, et al. Among authors: estrada veras ji. Cancers (Basel). 2021 Aug 17;13(16):4126. doi: 10.3390/cancers13164126. Cancers (Basel). 2021. PMID: 34439280 Free PMC article.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A; Genomics England Research Consortium; Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK. Lin SJ, et al. Among authors: estrada veras ji. Genet Med. 2021 Oct;23(10):1933-1943. doi: 10.1038/s41436-021-01239-1. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172899 Free PMC article.
21 results