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

Year Number of Results
1962 2
1963 1
1965 3
1966 1
1967 2
1968 3
1969 4
1970 3
1971 3
1972 2
1973 1
1974 4
1975 35
1976 29
1977 32
1978 22
1979 34
1980 34
1981 32
1982 44
1983 41
1984 41
1985 47
1986 60
1987 65
1988 79
1989 77
1990 80
1991 106
1992 89
1993 114
1994 125
1995 129
1996 128
1997 114
1998 129
1999 145
2000 136
2001 185
2002 160
2003 154
2004 157
2005 201
2006 206
2007 204
2008 208
2009 192
2010 182
2011 193
2012 210
2013 213
2014 208
2015 181
2016 175
2017 177
2018 168
2019 175
2020 178
2021 189
2022 168
2023 123
2024 46

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5,700 results

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Quoted phrase not found in phrase index: "Aniridia-renal agenesis-psychomotor retardation 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 recognizable syndrome pattern consists of major and minor anom …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Chronic Inflammatory Placental Disorders Associated With Recurrent Adverse Pregnancy Outcome.
Cornish EF, McDonnell T, Williams DJ. Cornish EF, et al. Front Immunol. 2022 Apr 22;13:825075. doi: 10.3389/fimmu.2022.825075. eCollection 2022. Front Immunol. 2022. PMID: 35529853 Free PMC article. Review.
Chronic inflammatory placental disorders are a group of rare but devastating gestational syndromes associated with adverse pregnancy outcome. This review focuses on three related conditions: villitis of unknown etiology (VUE), chronic histiocytic intervillositis (CHI) and …
Chronic inflammatory placental disorders are a group of rare but devastating gestational syndromes associated with adverse pregnancy …
Trisomy 22.
Zellweger H, Ionasescu V, Simpson J. Zellweger H, et al. J Genet Hum. 1975 Mar;23(1):65-75. J Genet Hum. 1975. PMID: 1165480
This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of mental retardation with rather unspecific symptoms are variants of the s …
This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases ( …
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.
According to aggregation pattern, three types of the syndrome can be identified (hyperresponse after both reagents, Type I; EPI alone, Type II; ADP alone, Type III). Clinically, the syndrome is associated with both venous and arterial thrombosis. In pregnant women, …
According to aggregation pattern, three types of the syndrome can be identified (hyperresponse after both reagents, Type I; EPI alone …
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C. Hidestrand P, et al. J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. J Craniofac Surg. 2009. PMID: 19165041
Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of …
Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc …
Fraser syndrome.
Ozgünen T, Evrüke C, Kadayifçi O, Demir C, Aridoğan N, Vardar MA. Ozgünen T, et al. Int J Gynaecol Obstet. 1995 May;49(2):187-9. doi: 10.1016/0020-7292(94)02335-v. Int J Gynaecol Obstet. 1995. PMID: 7649327
In a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agenesis. Fraser syndrome (cryptophthalmus syndactyly syndrome) was diagnosed based on cryptophthalmos, atresia of meatus acusticus …
In a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agene …
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D. Renier D, et al. Childs Nerv Syst. 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. Childs Nerv Syst. 2000. PMID: 11151714 Review.
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and Apert syndrome carries the higher risk of mental …
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases …
Kabuki syndrome: a review.
Adam MP, Hudgins L. Adam MP, et al. Clin Genet. 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x. Clin Genet. 2005. PMID: 15691356 Review.
Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by di …
Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardatio …
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 unilater …
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded …
Rubinstein-Taybi syndrome.
Baxter G, Beer J. Baxter G, et al. Psychol Rep. 1992 Apr;70(2):451-6. doi: 10.2466/pr0.1992.70.2.451. Psychol Rep. 1992. PMID: 1598367
Rubinstein-Taybi Syndrome was first described in 1957 but only in 1963 as a distinguishable type of moderate mental retardation. ...The recurrent risk for siblings is approximately 0.1% but may be as high as 50% for offspring of patients with the syndrome. Th …
Rubinstein-Taybi Syndrome was first described in 1957 but only in 1963 as a distinguishable type of moderate mental retardation …
5,700 results