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

Year Number of Results
1978 1
1985 2
1987 1
1989 5
1990 1
1991 1
1992 2
1993 2
1994 3
1995 5
1996 3
1997 4
1998 3
1999 5
2000 2
2001 6
2002 4
2003 11
2004 10
2005 8
2006 8
2007 10
2008 13
2009 15
2010 6
2011 8
2012 12
2013 24
2014 29
2015 29
2016 20
2017 27
2018 33
2019 27
2020 42
2021 59
2022 46
2023 55
2024 24

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491 results

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Page 1
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T. Kajdic N, et al. Bosn J Basic Med Sci. 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. Bosn J Basic Med Sci. 2018. PMID: 28623672 Free PMC article. Review.
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. ...When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sens …
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. . …
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/ …
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 …
Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).
Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM. Rosenfeld RM, et al. Otolaryngol Head Neck Surg. 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. Otolaryngol Head Neck Surg. 2022. PMID: 35138954
Tympanostomy tubes are most often inserted because of persistent middle ear fluid, frequent ear infections, or ear infections that persist after antibiotic therapy. All these conditions are encompassed by the term otitis media (middle ear inflammation). ...The guideline is …
Tympanostomy tubes are most often inserted because of persistent middle ear fluid, frequent ear infections, or ear infections that persist a …
Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.
Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, Daly K, Doutré S, Gibson L, Giles ML, Greenlee J, Hamilton ST, Harrison GJ, Hui L, Jones CA, Palasanthiran P, Schleiss MR, Shand AW, van Zuylen WJ. Rawlinson WD, et al. Lancet Infect Dis. 2017 Jun;17(6):e177-e188. doi: 10.1016/S1473-3099(17)30143-3. Epub 2017 Mar 11. Lancet Infect Dis. 2017. PMID: 28291720 Review.
Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelin …
Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neona …
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. ...Data from the literature …
We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of …
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
Indelicato E, Boesch S. Indelicato E, et al. Handb Exp Pharmacol. 2023;279:227-248. doi: 10.1007/164_2022_625. Handb Exp Pharmacol. 2023. PMID: 36592223 Review.
Additional chronic neurological symptoms range from severe developmental phenotypes in early-onset cases to neurobehavioural disorders and chronic cerebellar ataxia in older children and adults.In the present review we systematically approach the clinical manifestations of …
Additional chronic neurological symptoms range from severe developmental phenotypes in early-onset cases to neurobehavioural disorder …
Cerumen Impaction: Diagnosis and Management.
Michaudet C, Malaty J. Michaudet C, et al. Am Fam Physician. 2018 Oct 15;98(8):525-529. Am Fam Physician. 2018. PMID: 30277727 Free article.
Cerumen should also be removed when it limits examination in patients who cannot communicate their symptoms, such as those with dementia or developmental delay, nonverbal patients with behavioral changes, and young children with fever, speech delay, or parent …
Cerumen should also be removed when it limits examination in patients who cannot communicate their symptoms, such as those with dementia or …
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC. Hebbar M, et al. F1000Res. 2020 Mar 12;9:F1000 Faculty Rev-185. doi: 10.12688/f1000research.21366.1. eCollection 2020. F1000Res. 2020. PMID: 32201576 Free PMC article. Review.
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. ...
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizure …
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. AS is characterized by global developmental delay, severe intellectual …
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein …
491 results