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Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.
Papadopoulou A, Bountouvi E. Papadopoulou A, et al. Front Endocrinol (Lausanne). 2023 Oct 27;14:1231828. doi: 10.3389/fendo.2023.1231828. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37964950 Free PMC article. Review.
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. ...
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenet
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S. Papadopoulos G, et al. Eur J Pediatr. 2022 Oct;181(10):3691-3700. doi: 10.1007/s00431-022-04574-w. Epub 2022 Jul 29. Eur J Pediatr. 2022. PMID: 35904599
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...Herein, we report the clinical and molecular data of a Greek cohort comprising of 86 NS or NS-like patients admitted at a single tertiary Centre in Athens,
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...Herein, we report the
Bone status in genetic syndromes: a review.
Stagi S, Iurato C, Lapi E, Cavalli L, Brandi ML, de Martino M. Stagi S, et al. Hormones (Athens). 2015 Jan-Mar;14(1):19-31. doi: 10.1007/BF03401378. Hormones (Athens). 2015. PMID: 25885101 Free article. Review.
This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment …
This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Wil …
Oral manifestations of eleven individuals with Noonan syndrome. A case series.
Vavetsi K, Panagopoulou O, Fryssira Η, Bobetsis SA, Emmanouil D, Madianos PN, Bobetsis YA. Vavetsi K, et al. Spec Care Dentist. 2023 Jul-Aug;43(4):492-500. doi: 10.1111/scd.12780. Epub 2022 Sep 18. Spec Care Dentist. 2023. PMID: 36117271
AIMS: Noonan syndrome (NS) is a clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, and congenital heart defects. ...
AIMS: Noonan syndrome (NS) is a clinically and genetically heterogeneous condition characterized by distinctive facial features, shor …
Recurrent short rib polydactyly syndrome.
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A. Eleftheriades M, et al. J Obstet Gynaecol. 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. J Obstet Gynaecol. 2013. PMID: 23259870 Review.
Four major types of the SRPS have been described: type I (Saldino-Noonan); type II (Majewski); type III (Verma-Naumoff) and type IV (Beemar-Langer). ...
Four major types of the SRPS have been described: type I (Saldino-Noonan); type II (Majewski); type III (Verma-Naumoff) and type IV ( …
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.
Yapijakis C, Pachis N, Voumvourakis C. Yapijakis C, et al. Adv Exp Med Biol. 2017;987:151-159. doi: 10.1007/978-3-319-57379-3_14. Adv Exp Med Biol. 2017. PMID: 28971455
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). ...
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis typ …
Evidence for the Higgs Boson Decay to a Z Boson and a Photon at the LHC.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Appelt C, Ap… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2024 Jan 12;132(2):021803. doi: 10.1103/PhysRevLett.132.021803. Phys Rev Lett. 2024. PMID: 38277607 Free article.
277 results