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

Year Number of Results
1945 2
1946 3
1947 1
1948 1
1949 1
1951 2
1952 1
1953 1
1954 3
1955 2
1956 2
1957 5
1958 4
1959 2
1960 6
1961 3
1962 4
1963 15
1964 23
1965 17
1966 16
1967 25
1968 35
1969 38
1970 35
1971 57
1972 41
1973 56
1974 58
1975 70
1976 62
1977 75
1978 66
1979 74
1980 62
1981 82
1982 89
1983 77
1984 102
1985 90
1986 102
1987 100
1988 92
1989 121
1990 155
1991 182
1992 169
1993 196
1994 245
1995 213
1996 239
1997 222
1998 226
1999 255
2000 239
2001 249
2002 196
2003 237
2004 251
2005 287
2006 318
2007 355
2008 342
2009 314
2010 381
2011 435
2012 473
2013 525
2014 507
2015 560
2016 631
2017 634
2018 617
2019 699
2020 650
2021 602
2022 563
2023 445
2024 203

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12,944 results

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Quoted phrase not found in phrase index: "Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"
Page 1
Growth charts in DYRK1A syndrome.
Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, Vincent M. Lanvin PL, et al. Am J Med Genet A. 2024 Jan;194(1):9-16. doi: 10.1002/ajmg.a.63412. Epub 2023 Sep 22. Am J Med Genet A. 2024. PMID: 37740550
Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. ...In accordance with th …
Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, gr …
Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Cordelli DM, et al. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. Genes (Basel). 2021. PMID: 34199024 Free PMC article. Review.
The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of …
The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life qua …
Association of Intellectual Disability With All-Cause and Cause-Specific Mortality in Sweden.
Hirvikoski T, Boman M, Tideman M, Lichtenstein P, Butwicka A. Hirvikoski T, et al. JAMA Netw Open. 2021 Jun 1;4(6):e2113014. doi: 10.1001/jamanetworkopen.2021.13014. JAMA Netw Open. 2021. PMID: 34156453 Free PMC article.
IMPORTANCE: Knowledge of the health challenges and mortality in people with intellectual disability (ID) should guide health policies and practices in contemporary society. ...Two registers were used to identify individuals with ID: the National Patient Register and …
IMPORTANCE: Knowledge of the health challenges and mortality in people with intellectual disability (ID) should guide health p …
Cause of death in adults with intellectual disability in the United States.
Landes SD, Stevens JD, Turk MA. Landes SD, et al. J Intellect Disabil Res. 2021 Jan;65(1):47-59. doi: 10.1111/jir.12790. Epub 2020 Oct 12. J Intellect Disabil Res. 2021. PMID: 33043518 Free PMC article.
BACKGROUND: Prior studies report that adults with intellectual disability (ID) have cause of death patterns distinct from adults in the general population but do not provide comparative analysis by specific causes of death. ...RESULTS: The leading cause of death for …
BACKGROUND: Prior studies report that adults with intellectual disability (ID) have cause of death patterns distinct from adul …
Osteoporosis in adults with intellectual disabilities.
Petrone LR. Petrone LR. South Med J. 2012 Feb;105(2):87-92. doi: 10.1097/SMJ.0b013e3182427042. South Med J. 2012. PMID: 22267097 Review.
The medical care of adults with intellectual disabilities (ID) originates in primary care physicians' offices. ...
The medical care of adults with intellectual disabilities (ID) originates in primary care physicians' offices. ...
Neuropathology of Mowat-Wilson Syndrome.
Conces MR, Hughes A, Pierson CR. Conces MR, et al. Pediatr Dev Pathol. 2020 Aug;23(4):322-325. doi: 10.1177/1093526620903956. Epub 2020 Apr 6. Pediatr Dev Pathol. 2020. PMID: 32252596
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of ZEB2. .. …
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual …
Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up.
Gouvea LA, Martins M, Vivacqua D, Rosseto J, Lima G, Frota AC, Abreu T, Araujo A, Hofer CB. Gouvea LA, et al. J Child Neurol. 2021 Jun;36(7):537-544. doi: 10.1177/0883073820983163. Epub 2021 Jan 7. J Child Neurol. 2021. PMID: 33406966
Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. RESULTS: We followed 28 children (15 females), with a median follow-up of 24 months (IQR = 12-28). ...Maternal illicit drug use during pregnancy was associated with worse progno …
Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. RESULTS: We followed 28 children (15 fem …
Tumor Screening, Incidence, and Treatment for Patients with Severe Motor and Intellectual Disabilities.
Ishimaru K, Akita S, Matsuda S, Yukumi S, Morimoto M, Kikuchi C, Matsui S, Tanigawa K, Kuwabara J, Matsumoto H, Kikuchi S, Yoshida M, Koga S, Watanabe Y. Ishimaru K, et al. J Nippon Med Sch. 2022 May 12;89(2):212-214. doi: 10.1272/jnms.JNMS.2022_89-217. Epub 2021 Sep 14. J Nippon Med Sch. 2022. PMID: 34526464 Free article.
BACKGROUND: The increasing age of patients with severe motor and intellectual disabilities (SMID) has become a serious concern. Few studies have investigated tumor treatment in this population. ...
BACKGROUND: The increasing age of patients with severe motor and intellectual disabilities (SMID) has become a serious concern. Few s …
Respiratory-associated deaths in people with intellectual disabilities: a systematic review and meta-analysis.
Truesdale M, Melville C, Barlow F, Dunn K, Henderson A, Hughes-McCormack LA, McGarty A, Rydzewska E, Smith GS, Symonds J, Jani B, Kinnear D. Truesdale M, et al. BMJ Open. 2021 Jul 14;11(7):e043658. doi: 10.1136/bmjopen-2020-043658. BMJ Open. 2021. PMID: 34261677 Free PMC article.
OBJECTIVE: To review and synthesise evidence on rates of respiratory-associated deaths and associated risk factors in the intellectual disability population. DESIGN: Systematic review and meta-analysis. ...RESULTS: We identified 2295 studies, 17 were included in the …
OBJECTIVE: To review and synthesise evidence on rates of respiratory-associated deaths and associated risk factors in the intellectual …
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. ...The variant …
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intelle …
12,944 results
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