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1947 2
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1957 2
1959 1
1960 1
1961 4
1962 2
1963 16
1964 27
1965 37
1966 22
1967 27
1968 35
1969 41
1970 61
1971 70
1972 65
1973 73
1974 85
1975 114
1976 117
1977 104
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1979 108
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1982 133
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1988 162
1989 202
1990 217
1991 245
1992 237
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1994 305
1995 326
1996 313
1997 295
1998 346
1999 422
2000 451
2001 446
2002 451
2003 530
2004 576
2005 585
2006 597
2007 704
2008 745
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2010 878
2011 979
2012 1062
2013 1241
2014 1324
2015 1298
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2017 1289
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26,549 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 …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). ...We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disea …
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). .. …
Dysmorphology diagnosis.
Puri RD, Verma IC. Puri RD, et al. Indian J Pediatr. 2004 Jun;71(6):535-9. doi: 10.1007/BF02724297. Indian J Pediatr. 2004. PMID: 15226565
A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes described and diagnosis of a syndrome appears a daunting task. An approach to diagnosis of a malformation syndrome is presented …
A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes d …
How we approach hemangiomas in infants.
Mayer JLR, Intzes S, Oza VS, Blei F. Mayer JLR, et al. Pediatr Blood Cancer. 2022 Aug;69 Suppl 3:e29077. doi: 10.1002/pbc.29077. Epub 2021 Jun 20. Pediatr Blood Cancer. 2022. PMID: 34151510
This manuscript seeks to illustrate how we evaluate and manage these complex tumors, their complications, and associated syndromes, while remaining ever vigilant for malignant hemangioma mimickers such as soft tissue sarcomas and congenital leukemia....
This manuscript seeks to illustrate how we evaluate and manage these complex tumors, their complications, and associated syndromes, w …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. ...Although most occurrences ostensibly seem sporadic, familial recurrences ha …
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations …
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 …
Olmsted syndrome.
Perry HO, Su WP. Perry HO, et al. Semin Dermatol. 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. Semin Dermatol. 1995. PMID: 7640195
Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. ...In the differential diagnosi …
Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during …
Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.
Wang Q, Wang D, Qin T, Zhang X, Lin X, Chen J, Chen W, Zhao L, Huang W, Lin Z, Li J, Dongye M, Wu X, Wang X, Li X, Lin Y, Tan H, Liu Y, Lin H, Chen W. Wang Q, et al. Am J Ophthalmol. 2024 Jul;263:206-213. doi: 10.1016/j.ajo.2023.10.022. Epub 2024 Jan 5. Am J Ophthalmol. 2024. PMID: 38184101
PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients. ...MAIN OUTCOMES AND MEASURES: factors related to the genetic diagnosis yield of …
PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-ge …
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated with each syndrome. 3. ...The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, …
Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated …
26,549 results
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