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Year Number of Results
1996 5
1997 4
1998 11
1999 2
2000 4
2001 3
2002 7
2003 7
2004 9
2005 3
2006 1
2007 7
2008 16
2009 15
2010 14
2011 26
2012 29
2013 41
2014 52
2015 43
2016 52
2017 58
2018 54
2019 66
2020 68
2021 85
2022 71
2023 65
2024 32

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710 results

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Page 1
Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V. Salcedo-Arellano MJ, et al. Gac Med Mex. 2020;156(1):60-66. doi: 10.24875/GMM.19005275. Gac Med Mex. 2020. PMID: 32026885 Free article. Review. English.
Fragile X syndrome is the monogenetic condition that produces more cases of autism and intellectual disability. The repetition of CGG triplets (> 200) and their methylation entail the silencing of the FMR1 gene. ...Current recommendation of the American Academy o …
Fragile X syndrome is the monogenetic condition that produces more cases of autism and intellectual disability. The repetition …
Autism Spectrum Disorder: Primary Care Principles.
Sanchack KE, Thomas CA. Sanchack KE, et al. Am Fam Physician. 2016 Dec 15;94(12):972-979. Am Fam Physician. 2016. PMID: 28075089 Free article. Review.
Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis …
Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medica …
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed …
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disab …
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). ...
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectua …
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual di …
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCD …
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.
Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, Charmandari E, Chernausek SD, Cutfield WS, Dauber A, Deeb A, Goedegebuure WJ, Hofman PL, Isganatis E, Jorge AA, Kanaka-Gantenbein C, Kashimada K, Khadilkar V, Luo XP, Mathai S, Nakano Y, Yau M. Hokken-Koelega ACS, et al. Endocr Rev. 2023 May 8;44(3):539-565. doi: 10.1210/endrev/bnad002. Endocr Rev. 2023. PMID: 36635911 Free PMC article.
In case of dysmorphic features, major malformations, microcephaly, developmental delay, intellectual disability, and/or signs of skeletal dysplasia, genetic testing should be considered. ...
In case of dysmorphic features, major malformations, microcephaly, developmental delay, intellectual disability, and/or signs …
Diagnosis and management of Down syndrome.
Agarwal Gupta N, Kabra M. Agarwal Gupta N, et al. Indian J Pediatr. 2014 Jun;81(6):560-7. doi: 10.1007/s12098-013-1249-7. Epub 2013 Oct 15. Indian J Pediatr. 2014. PMID: 24127006
Down syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neglected disorder amongst practicing physicians. Children with Down syndrome when intervened early by speech therapy, physiotherapy and …
Down syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neg …
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. ...Although recent advances in ne …
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-d …
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. ...This review will desc …
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxi …
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. ...Hete …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial featur …
710 results