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1962
2025

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 492
1999 483
2000 659
2001 674
2002 506
2003 564
2004 630
2005 695
2006 668
2007 643
2008 607
2009 627
2010 713
2011 724
2012 733
2013 817
2014 836
2015 820
2016 818
2017 788
2018 782
2019 764
2020 838
2021 808
2022 734
2023 715
2024 705
2025 42

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22,306 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 …
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Hassed S, et al. Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160419 Review.
In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and congenital heart defects each seen in 23%. CNS anomalies included structural anomalies, microcephaly, vascu …
In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomal
Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G. Vaisfeld A, et al. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32088. doi: 10.1002/ajmg.c.32088. Epub 2024 May 20. Am J Med Genet C Semin Med Genet. 2024. PMID: 38766979 Review.
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. Th …
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia conditi …
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.
Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. ...The diagnosis MGS should be considered in patients wit …
Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital …
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 …
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
22,306 results
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