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1983 1
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23 results

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Page 1
Antinuclear antibody testing.
Keren DF. Keren DF. Clin Lab Med. 2002 Jun;22(2):447-74. doi: 10.1016/s0272-2712(01)00012-9. Clin Lab Med. 2002. PMID: 12134471 Review.
The products differ, however, and laboratories are cautioned to test each in the context of the clinical needs of their clinicians. Proper use of the ANA test requires each laboratory to determine the cutoff used under their conditions of assay. Although either ANA screeni …
The products differ, however, and laboratories are cautioned to test each in the context of the clinical needs of their clinicians. Prope …
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Our results show that human DOT1L and fly grappa are required for proper development and that de novo heterozygous variants in DOT1L are associated with a Mendelian disease....
Our results show that human DOT1L and fly grappa are required for proper development and that de novo heterozygous variants in DOT1L …
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB. Bölsterli BK, et al. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
We conclude that patients with MAS-/MPC1-defects are amenable to dietary intervention and that early (genetic) diagnosis is key for initiation of proper treatment and can even be lifesaving....
We conclude that patients with MAS-/MPC1-defects are amenable to dietary intervention and that early (genetic) diagnosis is key for initiati …
[Sport activity after hip and knee arthroplasty].
Keren A, Berkovich Y, Soudry M. Keren A, et al. Harefuah. 2013 Nov;152(11):649-53, 688. Harefuah. 2013. PMID: 24416822 Review. Hebrew.
The importance of physical activity is a well known fact. In recent years it became clear that with the proper physical activity the outcomes of the operations are better. ...
The importance of physical activity is a well known fact. In recent years it became clear that with the proper physical activity the …
Potential roles in cardiac physiology and pathology of the cation channel TRPV2 expressed in cardiac cells and cardiac macrophages: a mini-review.
Entin-Meer M, Keren G. Entin-Meer M, et al. Am J Physiol Heart Circ Physiol. 2020 Jan 1;318(1):H181-H188. doi: 10.1152/ajpheart.00491.2019. Epub 2019 Dec 6. Am J Physiol Heart Circ Physiol. 2020. PMID: 31809212 Free article. Review.
Cardiomyocyte TRPV2 is expressed in the intercalated disks of the cardiac sarcomeres, where it is involved in maintaining the proper mechanoelectric coupling and structure. It is also abundantly expressed in the intracellular pools, mainly the endoplasmic reticulum. ...
Cardiomyocyte TRPV2 is expressed in the intercalated disks of the cardiac sarcomeres, where it is involved in maintaining the proper …
The cardiorenal syndrome: a mutual approach to concomitant cardiac and renal failure.
Ben-Shoshan J, Entin-Meer M, Guzner-Gur H, Keren G. Ben-Shoshan J, et al. Isr Med Assoc J. 2012 Sep;14(9):570-6. Isr Med Assoc J. 2012. PMID: 23101423 Free article. Review.
CRS is a difficult condition to manage, as treatment to relieve congestive symptoms of HF is limited by a further decline in renal functions, itself a major independent predictor of long-term cardiac morbidity. In order to perform a proper clinical investigation and implem …
CRS is a difficult condition to manage, as treatment to relieve congestive symptoms of HF is limited by a further decline in renal functions …
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia.
Benussi A, Alberici A, Samra K, Russell LL, Greaves CV, Bocchetta M, Ducharme S, Finger E, Fumagalli G, Galimberti D, Jiskoot LC, Le Ber I, Masellis M, Nacmias B, Rowe JB, Sanchez-Valle R, Seelaar H, Synofzik M; GENFI Consortium; Rohrer JD, Borroni B. Benussi A, et al. Alzheimers Dement. 2022 Jul;18(7):1408-1423. doi: 10.1002/alz.12485. Epub 2021 Dec 7. Alzheimers Dement. 2022. PMID: 34874596 Free article.
Recent advances in therapeutic approaches, at least in monogenic disease, demand a proper definition of these predementia stages. It has become clear that a consensus lexicon is needed to comprehensively describe the stages that anticipate dementia. ...
Recent advances in therapeutic approaches, at least in monogenic disease, demand a proper definition of these predementia stages. It …
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transcription factors suggest that these factors are not redundant and each contributes uniquely to proper development....
The only partial phenotypic overlap of AFF3- and AFF4-associated syndromes and the previously published transcriptome analyses of ALF transc …
Centering and symmetry breaking in confined contracting actomyosin networks.
Ierushalmi N, Malik-Garbi M, Manhart A, Abu Shah E, Goode BL, Mogilner A, Keren K. Ierushalmi N, et al. Elife. 2020 Apr 21;9:e55368. doi: 10.7554/eLife.55368. Elife. 2020. PMID: 32314730 Free PMC article.
Centering and decentering of cellular components is essential for internal organization of cells and their ability to perform basic cellular functions such as division and motility. How cells achieve proper localization of their organelles is still not well-understood, esp …
Centering and decentering of cellular components is essential for internal organization of cells and their ability to perform basic cellular …
Transforming Laboratory Utilization Review into Laboratory Stewardship: Guidelines by the PLUGS National Committee for Laboratory Stewardship.
Dickerson JA, Fletcher AH, Procop G, Keren DF, Singh IR, Garcia JJ, Carpenter RB, Miles J, Jackson B, Astion ML. Dickerson JA, et al. J Appl Lab Med. 2017 Sep 1;2(2):259-268. doi: 10.1373/jalm.2017.023606. J Appl Lab Med. 2017. PMID: 32630981 Free article.
In addition, these programs focus on developing, maintaining, and improving systems to provide proper financial coverage for medically necessary testing. Overall, clinical laboratory stewardship programs help clinicians improve the quality of patient care while reducing co …
In addition, these programs focus on developing, maintaining, and improving systems to provide proper financial coverage for medicall …
23 results