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

Year Number of Results
1963 4
1964 1
1965 2
1966 1
1967 2
1969 1
1970 1
1971 1
1972 1
1973 2
1974 1
1975 18
1976 20
1977 27
1978 24
1979 14
1980 16
1981 28
1982 23
1983 35
1984 42
1985 32
1986 34
1987 40
1988 56
1989 37
1990 61
1991 84
1992 72
1993 77
1994 90
1995 82
1996 128
1997 91
1998 117
1999 120
2000 117
2001 129
2002 110
2003 109
2004 131
2005 137
2006 159
2007 164
2008 174
2009 141
2010 147
2011 172
2012 172
2013 161
2014 181
2015 154
2016 161
2017 129
2018 116
2019 126
2020 168
2021 145
2022 150
2023 106
2024 52

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4,460 results

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Quoted phrase not found in phrase index: "Aniridia-renal agenesis-psychomotor retardation syndrome"
Page 1
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.
Women with recurrent CHI and their families are predisposed to autoimmune diseases, suggesting CHI may have an alloimmune pathology. This observation has driven attempts to prevent CHI with a wide range of maternal immunosuppression. ...This review summarises current under …
Women with recurrent CHI and their families are predisposed to autoimmune diseases, suggesting CHI may have an alloimmune pathology. This …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. ...Even with optimal management, most of the children seem to experi …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
Pituitary stalk interruption syndrome.
Voutetakis A. Voutetakis A. Handb Clin Neurol. 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. Handb Clin Neurol. 2021. PMID: 34238482 Review.
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonance imaging and characterized by a thin, interrupted, attenuated or absent pituitary stalk, hypoplasia or aplasia of the adenohypophysis, and …
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonan …
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with h …
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professional …
Aicardi syndrome.
Rosser T. Rosser T. Arch Neurol. 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. Arch Neurol. 2003. PMID: 14568821 Review.
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spasms, absence of the corpus callosum, and chorioretinal lacunae. ...This article highlights several seminal citations involving the history o …
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spa …
Syndromes of aging.
Frolkis VV. Frolkis VV. Gerontology. 1992;38(1-2):80-6. doi: 10.1159/000213310. Gerontology. 1992. PMID: 1612465 Review.
Determination of syndromes of accelerated aging or retarded aging permits the prediction of age pathology development and life span. ...Different correlation of the above parameters forms the basis for species-specific variations in the aging process. Neurohu …
Determination of syndromes of accelerated aging or retarded aging permits the prediction of age pathology development a …
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.
The frequency of increased intracranial hypertension and the risk of mental impairment depend on the age of the child and the type of craniosynostosis. In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In …
The frequency of increased intracranial hypertension and the risk of mental impairment depend on the age of the child and the type of cranio …
Short-leg syndrome.
Vogel F Jr. Vogel F Jr. Clin Podiatry. 1984 Dec;1(3):581-99. Clin Podiatry. 1984. PMID: 6536410
Short-leg syndrome, or asymmetry of length in the lower extremities, is a common orthopedic problem in children. ...Scanograms or orthoroentgenograms are useful in diagnosing, quantifying, and prognosing short-leg syndrome. Prediction of the projected discrep …
Short-leg syndrome, or asymmetry of length in the lower extremities, is a common orthopedic problem in children. ...Scanograms or ort …
Niikawa-Kuroki syndrome.
Roccella M. Roccella M. Minerva Pediatr. 1999 Jul-Aug;51(7-8):271-8. Minerva Pediatr. 1999. PMID: 10634060 Review. English, Italian.
In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. ...The features of the face are like the make-up of …
In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias …
Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.
Wang B, Jiang W, Yan W, Tian J, Xu J, Li Y, Zhao Y, Dai Y, Cheng G, Hou G. Wang B, et al. BMC Neurol. 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4. BMC Neurol. 2021. PMID: 34053436 Free PMC article.
Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had facial asymmetry. ...Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 h …
Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had f …
4,460 results