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

Year Number of Results
1924 1
1929 1
1931 1
1934 2
1936 1
1938 1
1939 5
1940 2
1943 1
1945 11
1946 38
1947 28
1948 45
1949 46
1950 80
1951 114
1952 98
1953 93
1954 97
1955 108
1956 96
1957 107
1958 101
1959 111
1960 99
1961 105
1962 132
1963 153
1964 173
1965 188
1966 203
1967 252
1968 270
1969 272
1970 272
1971 297
1972 283
1973 280
1974 349
1975 433
1976 453
1977 553
1978 546
1979 615
1980 587
1981 669
1982 722
1983 746
1984 811
1985 917
1986 906
1987 961
1988 1034
1989 1202
1990 1173
1991 1160
1992 1282
1993 1337
1994 1238
1995 1281
1996 1443
1997 1514
1998 1618
1999 1674
2000 1709
2001 1775
2002 1814
2003 1913
2004 1941
2005 2161
2006 2218
2007 2358
2008 2454
2009 2610
2010 2690
2011 2990
2012 3245
2013 3541
2014 3670
2015 3824
2016 3754
2017 3711
2018 3875
2019 3966
2020 3122
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82,447 results
Results by year
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Page 1
Focal Cortical Dysplasia.
Crino PB. Crino PB. Semin Neurol. 2015 Jun;35(3):201-8. doi: 10.1055/s-0035-1552617. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060899 Free PMC article. Review.
The pathogenesis of focal cortical dysplasias remains to be defined, although there is recent evidence to suggest that focal cortical dysplasias arise from de novo somatic mutations occurring during brain development. Some focal cortical dysplasia subtypes sh …
The pathogenesis of focal cortical dysplasias remains to be defined, although there is recent evidence to suggest that focal cortical …
Fetal magnetic resonance imaging of skeletal dysplasias.
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM. Gilligan LA, et al. Pediatr Radiol. 2020 Feb;50(2):224-233. doi: 10.1007/s00247-019-04537-8. Epub 2019 Nov 27. Pediatr Radiol. 2020. PMID: 31776601
BACKGROUND: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. OBJECTIVE: The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias
BACKGROUND: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; how …
Otosclerosis and Dysplasias of the Temporal Bone.
Andreu-Arasa VC, Sung EK, Fujita A, Saito N, Sakai O. Andreu-Arasa VC, et al. Neuroimaging Clin N Am. 2019 Feb;29(1):29-47. doi: 10.1016/j.nic.2018.09.004. Epub 2018 Oct 31. Neuroimaging Clin N Am. 2019. PMID: 30466643 Review.
Many bone dysplasias, some common and others rare, may involve the temporal bone causing conductive, sensorineural, or mixed hearing loss, vestibular dysfunction, or skull base foraminal narrowing, potentially affecting quality of life. ...High-resolution computed tomograp …
Many bone dysplasias, some common and others rare, may involve the temporal bone causing conductive, sensorineural, or mixed hearing …
Fibrillin protein pleiotropy: Acromelic dysplasias.
Sakai LY, Keene DR. Sakai LY, et al. Matrix Biol. 2019 Jul;80:6-13. doi: 10.1016/j.matbio.2018.09.005. Epub 2018 Sep 13. Matrix Biol. 2019. PMID: 30219651 Review.
In contrast, rare mutations in FBN1 that are confined to only certain domains cause several different types of acromelic dysplasia. ...Many of the phenotypes of acromelic dysplasias are the opposite of those found in Marfan syndrome. Knowledge of the functions and s …
In contrast, rare mutations in FBN1 that are confined to only certain domains cause several different types of acromelic dysplasia. . …
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J. Offiah AC, et al. Pediatr Radiol. 2019 Jan;49(1):3-22. doi: 10.1007/s00247-018-4239-0. Epub 2018 Oct 3. Pediatr Radiol. 2019. PMID: 30284005 Free PMC article. Review.
Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e. …
Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses o …
Etiology and pathogenesis of ectodermal dysplasias.
Itin PH. Itin PH. Am J Med Genet A. 2014 Oct;164A(10):2472-7. doi: 10.1002/ajmg.a.36550. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715647 Review.
In recent years much has been discovered regarding the molecular mechanisms of ectodermal embryogenesis and this facilitates a rational basis for classification of ectodermal dysplasia. ...The upcoming classification of ectodermal dysplasias will combine detailed cl …
In recent years much has been discovered regarding the molecular mechanisms of ectodermal embryogenesis and this facilitates a rational basi …
Autosomal Dominant TRPV4 Disorders.
McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. McCray BA, et al. 2014 May 15 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 24830047 Free Books & Documents. Review.
Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. ...Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular …
Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. …
What Is New in Prenatal Skeletal Dysplasias?
Victoria T, Zhu X, Lachman R, Epelman M, Oliver ER, Adzick NS, Biko DM. Victoria T, et al. AJR Am J Roentgenol. 2018 May;210(5):1022-1033. doi: 10.2214/AJR.17.19337. Epub 2018 Mar 12. AJR Am J Roentgenol. 2018. PMID: 29528710 Review.
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integr …
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal …
[Hair anomalies in syndromic disorders].
Frank J, Betz RC. Frank J, et al. Hautarzt. 2019 Jul;70(7):514-519. doi: 10.1007/s00105-019-4440-6. Hautarzt. 2019. PMID: 31197391 Review. German.
This is especially true for ectodermal dysplasias but also for hereditary syndromes in which, beyond abnormal hair growth, other structures and organs are affected. ...
This is especially true for ectodermal dysplasias but also for hereditary syndromes in which, beyond abnormal hair growth, other stru …
Achondrogenesis.
Kapur RP. Kapur RP. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. doi: 10.2350/07-01-0216.1. Pediatr Dev Pathol. 2007. PMID: 17638434
The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias....
The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and g …
82,447 results
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