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

Year Number of Results
1953 2
1954 1
1956 1
1958 2
1959 3
1960 7
1961 7
1962 4
1964 3
1965 19
1966 50
1967 100
1968 108
1969 136
1970 161
1971 202
1972 212
1973 260
1974 284
1975 257
1976 274
1977 272
1978 251
1979 265
1980 268
1981 302
1982 302
1983 338
1984 378
1985 353
1986 345
1987 366
1988 358
1989 383
1990 488
1991 500
1992 542
1993 650
1994 560
1995 626
1996 646
1997 640
1998 676
1999 729
2000 759
2001 740
2002 737
2003 796
2004 860
2005 859
2006 931
2007 1059
2008 1078
2009 1156
2010 1258
2011 1318
2012 1410
2013 1537
2014 1522
2015 1470
2016 1371
2017 1313
2018 1186
2019 528
2020 5
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Search Results

31,969 results
Results by year
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Page 1
Non-invasive prenatal testing
Harraway J. Aust Fam Physician 2017. PMID 29036772 Free article.
DISCUSSION: NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities. If used appropriately, it increases the detection rate for fetal chromosomal abnormalities, while decreasing the number of invasive tests required. ...
DISCUSSION: NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities
Trichoscopy in Hair Shaft Disorders
Rudnicka L, et al. Dermatol Clin 2018 - Review. PMID 30201151
The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows uniform elliptical nodosities with intermittent constrictions. ...In ectodermal dysplasias, trichoscopy shows a variety of hair abnormalities, but the most characteristic finding is hair shaft pigmentation heterogeneity....
The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows u …
Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.
Yazigi A, et al. J Matern Fetal Neonatal Med 2017 - Review. PMID 27002428
We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. METHODS: We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. ...
We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goa …
Cri du chat syndrome: a critical review
Rodríguez-Caballero A, et al. Med Oral Patol Oral Cir Bucal 2010 - Review. PMID 20038906 Free article.
Facies: the value of an old diagnostic tip in pediatric dermatology
Schepis C and Romano C. G Ital Dermatol Venereol 2018 - Review. PMID 28421730
Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. ...
Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Co …
[Diagnostic criteria and treatment progress of PHACE syndrome]
Sun LL, et al. Zhonghua Kou Qiang Yi Xue Za Zhi 2017 - Review. PMID 29972952 Chinese.
PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, characterized by abnormal posterior fossa development, infant hemangioma, aortic abnormalities, aortic coarctation and heart defects, eye anomalies and other symptoms. ...This article reviews the diagnostic criteria of PHACE syndrome and its associated facial segmental hemangioma, as well as the treatment and prognosis of brain abnormalities....
PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, c …
Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.
Giambona A, et al. Acta Obstet Gynecol Scand 2018. PMID 29292496
Celocentesis is a procedure for prenatal diagnosis that could be used from as early as 7 weeks. The present investigation evaluated the feasibility of performing diagnosis for monogenic diseases using celomic fluid containing cells of fetal origin. ...In all cases, the diagnosis of hemoglobinopathies and chromosomal abnormalities was confirmed by molecular and traditional cytogenetic analysis after amniocentesis, chorionic villus or placental tissue collection following pregnancy termination. ...
Celocentesis is a procedure for prenatal diagnosis that could be used from as early as 7 weeks. The present investigation evaluated t …
Imaging findings in Down syndrome
Radhakrishnan R and Towbin AJ. Pediatr Radiol 2014 - Review. PMID 24737033
People with Down syndrome can have abnormalities of multiple organ systems. Cardiac and respiratory system involvement is the most common cause of morbidity and mortality, although every organ system can be affected. ...If the diagnosis is not made prenatally, it is apparent at birth because of the characteristic facial features and musculoskeletal findings. ...
People with Down syndrome can have abnormalities of multiple organ systems. Cardiac and respiratory system involvement is the …
31,969 results
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