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

Year Number of Results
1951 1
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1953 2
1954 4
1955 2
1956 1
1957 6
1958 2
1959 2
1961 2
1964 6
1965 22
1966 23
1967 34
1968 50
1969 50
1970 68
1971 85
1972 99
1973 102
1974 141
1975 106
1976 96
1977 107
1978 89
1979 94
1980 96
1981 119
1982 103
1983 125
1984 150
1985 146
1986 165
1987 145
1988 109
1989 152
1990 180
1991 208
1992 195
1993 227
1994 260
1995 228
1996 266
1997 258
1998 304
1999 339
2000 352
2001 395
2002 382
2003 454
2004 492
2005 516
2006 582
2007 591
2008 678
2009 665
2010 757
2011 821
2012 873
2013 1011
2014 927
2015 899
2016 922
2017 890
2018 920
2019 987
2020 988
2021 904
2022 754
2023 571
2024 213

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20,105 results

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Quoted phrase not found in phrase index: "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
Page 1
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G. Venot Q, et al. Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. Nature. 2018. PMID: 29899452 Free PMC article. Clinical Trial.
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spect …
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal s …
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M. Herlin MK, et al. Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. Orphanet J Rare Dis. 2020. PMID: 32819397 Free PMC article. Review.
The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. ...However, the successful clinical trial of uterus transplantat …
The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough …
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM. Sawh-Martinez R, et al. Clin Plast Surg. 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. Clin Plast Surg. 2019. PMID: 30851747 Review.
Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care for complex reconstructive approaches. The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3 …
Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care fo …
CHARGE syndrome.
Blake KD, Prasad C. Blake KD, et al. Orphanet J Rare Dis. 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. Orphanet J Rare Dis. 2006. PMID: 16959034 Free PMC article. Review.
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). ...However, there have been individuals genetically identified with …
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retar …
Turner syndrome.
Lippe B. Lippe B. Endocrinol Metab Clin North Am. 1991 Mar;20(1):121-52. Endocrinol Metab Clin North Am. 1991. PMID: 2029883 Review.
Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article rev …
Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal …
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S. Martinez-Lopez A, et al. Curr Opin Pediatr. 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. Curr Opin Pediatr. 2019. PMID: 31693582 Review.
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVE …
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations …
Intrauterine surgery--choices and limitations.
Diemert A, Diehl W, Glosemeyer P, Deprest J, Hecher K. Diemert A, et al. Dtsch Arztebl Int. 2012 Sep;109(38):603-38. doi: 10.3238/arztebl.2012.0603. Epub 2012 Sep 21. Dtsch Arztebl Int. 2012. PMID: 23093990 Free PMC article. Review.
METHOD: Selective literature review RESULTS: Randomized trials have demonstrated the benefit of fetoscopic laser coagulation of placental anastomoses in twin-to-twin transfusion syndrome (TTTS) and of intrauterine surgery via hysterotomy for the repair of spina bifi …
METHOD: Selective literature review RESULTS: Randomized trials have demonstrated the benefit of fetoscopic laser coagulation of place …
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM); Gandhi M, Rac MWF, McKinney J. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. Am J Obstet Gynecol. 2019. PMID: 31787159 No abstract available.
Turner syndrome and the heart: cardiovascular complications and treatment strategies.
Gravholt CH. Gravholt CH. Am J Cardiovasc Drugs. 2002;2(6):401-13. doi: 10.2165/00129784-200202060-00005. Am J Cardiovasc Drugs. 2002. PMID: 14727955 Review.
During clinical evaluation of girls and women with Turner syndrome, these conditions and complications should be kept under surveillance. Here the cardiovascular complications of Turner syndrome are reviewed. The risk of congenital heart defects such a …
During clinical evaluation of girls and women with Turner syndrome, these conditions and complications should be kept under su …
Cell Therapy Trials in Congenital Heart Disease.
Oh H. Oh H. Circ Res. 2017 Apr 14;120(8):1353-1366. doi: 10.1161/CIRCRESAHA.117.309697. Circ Res. 2017. PMID: 28408455 Review.
Dramatic evolution in medical and catheter interventions and complex surgeries to treat children with congenital heart disease (CHD) has led to a growing number of patients with a multitude of long-term complications associated with morbidity and mortality. Heart failure i …
Dramatic evolution in medical and catheter interventions and complex surgeries to treat children with congenital heart disease (CHD) …
20,105 results
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