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[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra N, Morani I, Bayan H, Bakry D, Shaalan M, Saadi H, Beni Shrem S, Sawaed A, Kok G, Muffels IJ, Fuchs SA, Shapira-Rootman M, Mor-Shaked H, Mandel H. Nasser Samra N, et al. Among authors: shapira rootman m. Harefuah. 2023 Jun;162(6):344-351. Harefuah. 2023. PMID: 37394435 Hebrew.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. Samra N, et al. Among authors: shapira rootman m. J Med Genet. 2023 Nov;60(11):1133-1141. doi: 10.1136/jmg-2023-109267. Epub 2023 Jul 17. J Med Genet. 2023. PMID: 37460201
Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.
Levi S, Landau D, Davidovits M, Shapira Rootman M, Brener A, Gal S, Borovitz Y, Goldberg O, Bello R, Cleper R, Lebenthal Y, Levy-Shraga Y, Tiosano D, Chezana A, Regev R, Zeitlin L. Levi S, et al. Among authors: shapira rootman m. Front Pediatr. 2024 Dec 2;12:1487890. doi: 10.3389/fped.2024.1487890. eCollection 2024. Front Pediatr. 2024. PMID: 39687707 Free PMC article.
Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.
Shiloh R, Lubin R, David O, Geron I, Okon E, Hazan I, Zaliova M, Amarilyo G, Birger Y, Borovitz Y, Brik D, Broides A, Cohen-Kedar S, Harel L, Kristal E, Kozlova D, Ling G, Shapira Rootman M, Shefer Averbuch N, Spielman S, Trka J, Izraeli S, Yona S, Elitzur S. Shiloh R, et al. Among authors: shapira rootman m. Blood. 2023 Nov 16;142(20):1740-1751. doi: 10.1182/blood.2023020714. Blood. 2023. PMID: 37738562 Free article.
22 results