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

Year Number of Results
1946 1
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1955 2
1960 1
1963 4
1964 10
1965 10
1966 4
1967 4
1968 1
1969 9
1970 19
1971 21
1972 17
1973 16
1974 23
1975 31
1976 37
1977 30
1978 46
1979 26
1980 31
1981 39
1982 31
1983 47
1984 70
1985 60
1986 58
1987 57
1988 65
1989 86
1990 102
1991 110
1992 111
1993 162
1994 174
1995 181
1996 172
1997 187
1998 165
1999 211
2000 208
2001 216
2002 251
2003 264
2004 253
2005 277
2006 289
2007 304
2008 367
2009 358
2010 461
2011 491
2012 454
2013 537
2014 565
2015 541
2016 573
2017 567
2018 633
2019 666
2020 640
2021 575
2022 510
2023 381
2024 134

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11,512 results

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Quoted phrase not found in phrase index: "Congenital cataract-ichthyosis syndrome"
Page 1
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...The complexity and the severity of the clinical presentation at birth and …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Brown's syndrome.
Wilson ME, Eustis HS Jr, Parks MM. Wilson ME, et al. Surv Ophthalmol. 1989 Nov-Dec;34(3):153-72. doi: 10.1016/0039-6257(89)90100-8. Surv Ophthalmol. 1989. PMID: 2694414 Review.
"True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrome occurs as a congenital or acquired, constant or intermittent condition; the common link is restriction of free movement through …
"True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrom …
The Natural History of Early-onset Scoliosis.
Karol LA. Karol LA. J Pediatr Orthop. 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. J Pediatr Orthop. 2019. PMID: 31169646 Review.
BACKGROUND: Early-onset scoliosis (EOS) is defined as the diagnosis of a spinal deformity before the age of 5 years. It can be divided into idiopathic, neuromuscular/syndromic, and congenital etiologies. METHODS: The literature on the natural history of EOS was summ …
BACKGROUND: Early-onset scoliosis (EOS) is defined as the diagnosis of a spinal deformity before the age of 5 years. It can be divided into …
Congenital varicella syndrome: A systematic review.
Ahn KH, Park YJ, Hong SC, Lee EH, Lee JS, Oh MJ, Kim HJ. Ahn KH, et al. J Obstet Gynaecol. 2016 Jul;36(5):563-6. doi: 10.3109/01443615.2015.1127905. Epub 2016 Mar 10. J Obstet Gynaecol. 2016. PMID: 26965725 Review.
Varicella-zoster virus (VZV) is a teratogen that can cross the placenta and cause the congenital varicella syndrome (CVS), which is characterised by multi-system anomalies. ...
Varicella-zoster virus (VZV) is a teratogen that can cross the placenta and cause the congenital varicella syndrome (CVS), whi …
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. J Mother Child. 2020. PMID: 33074183 Free PMC article. Review.
Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. ...However, considering the progress and increasing availability of ge …
Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes …
Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.
Calcagni G, Unolt M, Digilio MC, Baban A, Versacci P, Tartaglia M, Baldini A, Marino B. Calcagni G, et al. Expert Rev Mol Diagn. 2017 Sep;17(9):861-870. doi: 10.1080/14737159.2017.1360766. Epub 2017 Aug 3. Expert Rev Mol Diagn. 2017. PMID: 28745539 Review.
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the ident …
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenita …
Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M. Armand T, et al. Neurochirurgie. 2019 Nov;65(5):196-201. doi: 10.1016/j.neuchi.2019.10.003. Epub 2019 Oct 9. Neurochirurgie. 2019. PMID: 31605683 Review.
Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and Saethre-Chotzen syndromes …
Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital …
The genetics of deafness.
Nance WE. Nance WE. Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. doi: 10.1002/mrdd.10067. Ment Retard Dev Disabil Res Rev. 2003. PMID: 12784229 Review.
Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic dea …
Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inherita …
Evaluation and management of syndromic congenital hearing loss.
Casazza G, Meier JD. Casazza G, et al. Curr Opin Otolaryngol Head Neck Surg. 2017 Oct;25(5):378-384. doi: 10.1097/MOO.0000000000000397. Curr Opin Otolaryngol Head Neck Surg. 2017. PMID: 28697000 Review.
PURPOSE OF REVIEW: The purpose of this review is to review the evaluation and management of children with syndromic hearing loss. Specific syndromes and the impact of those syndromes on managing hearing loss will be discussed. RECENT FINDINGS: Improved molecu …
PURPOSE OF REVIEW: The purpose of this review is to review the evaluation and management of children with syndromic hearing loss. Spe …
Tako-Tsubo syndrome, spontaneous coronary dissection and microvascular disease: Sex-differences.
Gori T, Anadol R. Gori T, et al. Clin Hemorheol Microcirc. 2018;70(4):375-379. doi: 10.3233/CH-189302. Clin Hemorheol Microcirc. 2018. PMID: 30320565 Review.
Takotsubo cardiomyopathy, coronary microvascular dysfunction, and spontaneous coronary artery dissection are the most common syndromes that affect these patients. Their mechanisms are complex, with a interplay between neurohormonal factors and a number of other systems. .. …
Takotsubo cardiomyopathy, coronary microvascular dysfunction, and spontaneous coronary artery dissection are the most common syndromes …
11,512 results
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