Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1945 1
1946 11
1947 22
1948 23
1949 23
1950 26
1951 14
1952 28
1953 25
1954 26
1955 26
1956 22
1957 35
1958 42
1959 35
1960 35
1961 38
1962 39
1963 53
1964 64
1965 69
1966 62
1967 74
1968 81
1969 83
1970 79
1971 103
1972 79
1973 119
1974 124
1975 801
1976 834
1977 721
1978 726
1979 854
1980 919
1981 992
1982 1180
1983 1435
1984 1641
1985 1733
1986 1799
1987 1996
1988 2254
1989 2399
1990 2591
1991 2812
1992 2987
1993 3172
1994 3356
1995 3640
1996 3830
1997 4037
1998 4205
1999 4568
2000 4967
2001 5252
2002 5345
2003 5853
2004 6551
2005 7461
2006 7958
2007 9028
2008 9810
2009 10660
2010 11737
2011 13166
2012 14167
2013 15740
2014 17092
2015 18470
2016 19473
2017 20097
2018 20973
2019 21655
2020 24836
2021 26568
2022 24564
2023 22225
2024 9848

Text availability

Article attribute

Article type

Publication date

Search Results

357,489 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies"
Page 1
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. ...We confirm and refine the phenotypic spectrum of the KMT2E-related neurodevelopmental dis …
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, …
Development and validation of a heart atlas to study cardiac exposure to radiation following treatment for breast cancer.
Feng M, Moran JM, Koelling T, Chughtai A, Chan JL, Freedman L, Hayman JA, Jagsi R, Jolly S, Larouere J, Soriano J, Marsh R, Pierce LJ. Feng M, et al. Int J Radiat Oncol Biol Phys. 2011 Jan 1;79(1):10-8. doi: 10.1016/j.ijrobp.2009.10.058. Epub 2010 Apr 24. Int J Radiat Oncol Biol Phys. 2011. PMID: 20421148 Free PMC article.

Percent overlap and concordance index of observer-contoured cardiac and gold standard volumes were 2.3-fold improved for all structures (p < 0.002). ...CONCLUSIONS: This validated University of Michigan cardiac atlas may serve as a useful tool in future st

…
Percent overlap and concordance index of observer-contoured cardiac and gold standard volumes were 2.3-fold improved for all s …
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
The variant heterozygotes displayed phenotypes that were not observed in null heterozygotes, with two shown to be through a dominant negative mechanism. ...Our combined bioinformatic, in vitro and in vivo experimental studies and clinical data support the association of RA …
The variant heterozygotes displayed phenotypes that were not observed in null heterozygotes, with two shown to be through a dominant …
Radionuclide Image-Guided Repair of the Heart.
Hess A, Thackeray JT, Wollert KC, Bengel FM. Hess A, et al. JACC Cardiovasc Imaging. 2020 Nov;13(11):2415-2429. doi: 10.1016/j.jcmg.2019.11.007. Epub 2019 Dec 18. JACC Cardiovasc Imaging. 2020. PMID: 31864993 Free article. Review.
As therapeutic approaches have evolved from exogenous bone marrow cell delivery to pharmacological stimulation of endogenous repair, so too has imaging of cardiac repair made significant strides forward. Evaluation of functional outcome remains a staple of noninvasive clin …
As therapeutic approaches have evolved from exogenous bone marrow cell delivery to pharmacological stimulation of endogenous repair, so too …
Echocardiography Segmentation With Enforced Temporal Consistency.
Painchaud N, Duchateau N, Bernard O, Jodoin PM. Painchaud N, et al. IEEE Trans Med Imaging. 2022 Oct;41(10):2867-2878. doi: 10.1109/TMI.2022.3173669. Epub 2022 Sep 30. IEEE Trans Med Imaging. 2022. PMID: 35533176
Convolutional neural networks (CNN) have demonstrated their ability to segment 2D cardiac ultrasound images. However, despite recent successes according to which the intra-observer variability on end-diastole and end-systole images has been reached, CNNs still strug …
Convolutional neural networks (CNN) have demonstrated their ability to segment 2D cardiac ultrasound images. However, despite recent …
T(2) and T(2)(*) mapping and weighted imaging in cardiac MRI.
Topriceanu CC, Pierce I, Moon JC, Captur G. Topriceanu CC, et al. Magn Reson Imaging. 2022 Nov;93:15-32. doi: 10.1016/j.mri.2022.07.012. Epub 2022 Jul 30. Magn Reson Imaging. 2022. PMID: 35914654 Free article. Review.
Cardiac imaging is progressing from simple imaging of heart structure and function to techniques visualizing and measuring underlying tissue biological changes that can potentially define disease and therapeutic options. ...
Cardiac imaging is progressing from simple imaging of heart structure and function to techniques visualizing and measuring und …
Myocardial deformation assessment using cardiovascular magnetic resonance-feature tracking technique.
Almutairi HM, Boubertakh R, Miquel ME, Petersen SE. Almutairi HM, et al. Br J Radiol. 2017 Dec;90(1080):20170072. doi: 10.1259/bjr.20170072. Epub 2017 Oct 9. Br J Radiol. 2017. PMID: 28830199 Free PMC article. Review.
BACKGROUND: Cardiovascular magnetic resonance (CMR) imaging is an important modality that allows the assessment of regional myocardial function by measuring myocardial deformation parameters, such as strain and strain rate throughout the cardiac cycle. Feature tracking is …
BACKGROUND: Cardiovascular magnetic resonance (CMR) imaging is an important modality that allows the assessment of regional myocardial funct …
Thymic involution: where endocrinology meets immunology.
Calder AE, Hince MN, Dudakov JA, Chidgey AP, Boyd RL. Calder AE, et al. Neuroimmunomodulation. 2011;18(5):281-9. doi: 10.1159/000329496. Epub 2011 Sep 22. Neuroimmunomodulation. 2011. PMID: 21952680 Review.
It is manifest in many parameters but is essentially linked to the adaptive immune responses. The prediction would be that abnormalities in both T and B lymphocytes underlie the loss of cellular and humoral capacity, respectively. ...This is closely aligned with pub …
It is manifest in many parameters but is essentially linked to the adaptive immune responses. The prediction would be that abnorma …
The endocrine system in diabetes mellitus.
Alrefai H, Allababidi H, Levy S, Levy J. Alrefai H, et al. Endocrine. 2002 Jul;18(2):105-19. doi: 10.1385/ENDO:18:2:105. Endocrine. 2002. PMID: 12374457 Review.
It is not clear whether the changes observed in the endocrine system represent a primary defect or reflect the effects of the impaired insulin action and abnormal carbohydrate and lipid metabolism on the hormonal milieu. ...Good metabolic control and insulin …
It is not clear whether the changes observed in the endocrine system represent a primary defect or reflect the effects …
357,489 results
You have reached the last available page of results. Please see the User Guide for more information.