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18 results

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Page 1
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL. Goyal G, et al. Among authors: estrada veras ji. Blood. 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. Blood. 2020. PMID: 32187362 Free article. Review.
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.
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: estrada veras ji. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
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.
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
Neurological manifestations of Erdheim-Chester Disease.
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Boyd LC, et al. Among authors: estrada veras ji. Ann Clin Transl Neurol. 2020 Apr;7(4):497-506. doi: 10.1002/acn3.51014. Epub 2020 Mar 29. Ann Clin Transl Neurol. 2020. PMID: 32227455 Free PMC article.
Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease.
Shekhar S, Sinaii N, Irizarry-Caro JA, Gahl WA, Estrada-Veras JI, Dave R, Papadakis GZ, Tirosh A, Abel BS, Klubo-Gwiezdzinska J, Skarulis MC, Gochuico BR, O'Brien K, Hannah-Shmouni F. Shekhar S, et al. Among authors: estrada veras ji. JAMA Netw Open. 2020 Oct 1;3(10):e2019169. doi: 10.1001/jamanetworkopen.2020.19169. JAMA Netw Open. 2020. PMID: 33119105 Free PMC article.
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.
18 results