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

Year Number of Results
1962 1
1963 7
1964 20
1965 7
1966 11
1967 20
1968 35
1969 31
1970 50
1971 51
1972 59
1973 63
1974 42
1975 50
1976 45
1977 42
1978 60
1979 51
1980 47
1981 79
1982 62
1983 86
1984 67
1985 76
1986 102
1987 172
1988 290
1989 280
1990 293
1991 347
1992 375
1993 464
1994 429
1995 470
1996 489
1997 501
1998 491
1999 483
2000 659
2001 674
2002 506
2003 564
2004 630
2005 695
2006 667
2007 641
2008 607
2009 624
2010 713
2011 723
2012 732
2013 817
2014 835
2015 819
2016 814
2017 782
2018 737
2019 665
2020 756
2021 745
2022 682
2023 630
2024 313

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21,546 results

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Page 1
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to t …
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral …
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA. Sadick M, et al. Rofo. 2018 Sep;190(9):825-835. doi: 10.1055/a-0620-8925. Epub 2018 Jun 6. Rofo. 2018. PMID: 29874693 Free article. Review. English.
In the classification, diagnosis and treatment of congenital vascular anomalies, radiology plays an integral part in patient management.. CITATION FORMAT: . Sadick M, Muller-Wille R, Wildgruber M et al. Vascular Anomalies (Part I): Classification and Diagnost …
In the classification, diagnosis and treatment of congenital vascular anomalies, radiology plays an integral part in patient m …
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD. Linglart L, et al. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32022400 Free PMC article. Review.
Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of congenital heart disease (i.e., pulmonary valve stenosis, septal defects, left-sided lesions, and comple …
Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most …
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. Scheinfeld NS, et al. Pediatr Dermatol. 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. Pediatr Dermatol. 2004. PMID: 15165194 Review.
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. ...Preauricular sinus …
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjace …
CLOVES syndrome.
Bloom J, Upton J 3rd. Bloom J, et al. J Hand Surg Am. 2013 Dec;38(12):2508-12. doi: 10.1016/j.jhsa.2013.08.120. Epub 2013 Oct 23. J Hand Surg Am. 2013. PMID: 24161472 Review.
A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. ...These patients have upper limb anomalies with variable phenotypes. Although hand anomalies
A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, …
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. Masunaga Y, et al. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.
Furthermore, compared with H19/IGF2:IG-DMR epimutations, IGF2 mutations were associated with low frequency of hemihypoplasia, high frequency of feeding difficulty and/or reduced body mass index, and mild degree of relative macrocephaly, together with occasional development of sev …
Furthermore, compared with H19/IGF2:IG-DMR epimutations, IGF2 mutations were associated with low frequency of hemihypoplasia, high frequency …
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. Orphanet J Rare Dis. 2015. PMID: 26381604 Free PMC article. Review.
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mamm …
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypopla …
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernandez syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal atresi …
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...The differential diagnos …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalie
Congenital portosystemic venous shunt.
Papamichail M, Pizanias M, Heaton N. Papamichail M, et al. Eur J Pediatr. 2018 Mar;177(3):285-294. doi: 10.1007/s00431-017-3058-x. Epub 2017 Dec 14. Eur J Pediatr. 2018. PMID: 29243189 Free PMC article. Review.
Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into extra- and intrahepatic shunts. They occur during liver and systemic venous vascular embryogenesis an
Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic
21,546 results
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