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

Year Number of Results
1952 1
1954 1
1955 1
1965 1
1967 2
1969 4
1970 2
1971 3
1974 1
1975 12
1976 8
1977 8
1978 10
1979 15
1980 11
1981 13
1982 12
1983 20
1984 26
1985 16
1986 22
1987 22
1988 22
1989 33
1990 37
1991 46
1992 28
1993 39
1994 47
1995 49
1996 42
1997 43
1998 56
1999 57
2000 52
2001 73
2002 63
2003 57
2004 61
2005 67
2006 94
2007 67
2008 69
2009 74
2010 75
2011 72
2012 78
2013 73
2014 95
2015 70
2016 61
2017 68
2018 48
2019 69
2020 69
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2024 17

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2,148 results

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Quoted phrase not found in phrase index: "Aniridia-renal agenesis-psychomotor retardation syndrome"
Page 1
Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach.
Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K. Lees CC, et al. Am J Obstet Gynecol. 2022 Mar;226(3):366-378. doi: 10.1016/j.ajog.2021.11.1357. Epub 2022 Jan 10. Am J Obstet Gynecol. 2022. PMID: 35026129 Free PMC article. Review.
This condition has been considered syndromic and has been frequently attributed to fetal growth restriction, a constitutionally small fetus, congenital infections, chromosomal abnormalities, or genetic conditions. ...The early type is associated with umbilical artery Doppl …
This condition has been considered syndromic and has been frequently attributed to fetal growth restriction, a constitutionally small …
Wilson disease.
Aggarwal A, Bhatt M. Aggarwal A, et al. Curr Opin Neurol. 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. Curr Opin Neurol. 2020. PMID: 32657896 Review.
These disorders include diseases of copper disposition, such as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome, Niemann-Pick type C, and certain congenital disorders of glycosylation, as well as analogous disorders of iron an …
These disorders include diseases of copper disposition, such as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, ke …
Sticky platelet syndrome.
Kubisz P, Stasko J, Holly P. Kubisz P, et al. Semin Thromb Hemost. 2013 Sep;39(6):674-83. doi: 10.1055/s-0033-1353394. Epub 2013 Aug 10. Semin Thromb Hemost. 2013. PMID: 23934738 Review.
Clinically, the syndrome is associated with both venous and arterial thrombosis. In pregnant women, complications such as fetal growth retardation and fetal loss have been reported. ...Despite several studies investigating platelet glycoproteins' role in platelets' …
Clinically, the syndrome is associated with both venous and arterial thrombosis. In pregnant women, complications such as fetal growt …
Pregnancy and Antiphospholipid Syndrome.
Schreiber K, Hunt BJ. Schreiber K, et al. Semin Thromb Hemost. 2016 Oct;42(7):780-788. doi: 10.1055/s-0036-1592336. Epub 2016 Sep 21. Semin Thromb Hemost. 2016. PMID: 27652601 Review.
Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). ...The randomized controlled multicenter trial of hydroxychloroquine vers …
Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persiste …
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L. Mocquard C, et al. Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27. Neurochirurgie. 2019. PMID: 31568780 Free article. Review.
The prevalence of trigonocephaly increased during the last two decades both in Europe and in the United States, but no clear contributing factors have yet been identified. Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in no …
The prevalence of trigonocephaly increased during the last two decades both in Europe and in the United States, but no clear contributing fa …
Developmental studies in fragile X syndrome.
Razak KA, Dominick KC, Erickson CA. Razak KA, et al. J Neurodev Disord. 2020 May 2;12(1):13. doi: 10.1186/s11689-020-09310-9. J Neurodev Disord. 2020. PMID: 32359368 Free PMC article. Review.
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. ...Does the absence of FMRP during early development lead to irreversible changes, or could reintroduction of FMRP or therapeutics aimed at FMRP-interacting proteins/path …
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. ...Does the absence of FMRP du …
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). ...Choanal atresia may be membranous or bony; bilateral or u …
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Re …
Happy Puppet syndrome.
Sarkar PA, Shigli A, Patidar C. Sarkar PA, et al. BMJ Case Rep. 2011 Oct 28;2011:bcr0920114747. doi: 10.1136/bcr.09.2011.4747. BMJ Case Rep. 2011. PMID: 22675103 Free PMC article.
It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People wi …
It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especial …
Catastrophic epilepsy in childhood.
Shields WD. Shields WD. Epilepsia. 2000;41 Suppl 2:S2-6. doi: 10.1111/j.1528-1157.2000.tb01518.x. Epilepsia. 2000. PMID: 10885734 Free article. Review.
There are other syndromes that are relatively common such as infantile spasms, Lennox-Gastaut syndrome, and Sturge-Weber syndrome. Many children with catastrophic epilepsy have the seizures as a result of underlying brain abnormalities that will inevitably le …
There are other syndromes that are relatively common such as infantile spasms, Lennox-Gastaut syndrome, and Sturge-Weber sy …
Treatment of infantile spasms.
Hancock EC, Osborne JP, Edwards SW. Hancock EC, et al. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770. doi: 10.1002/14651858.CD001770.pub3. Cochrane Database Syst Rev. 2013. PMID: 23740534 Review.
BACKGROUND: Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an electroencephalographic (EEG) abnormality often called hypsarrhythmia. Psychomotor retardation is frequently found at follow-up. …
BACKGROUND: Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and …
2,148 results