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3,248 results

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Quoted phrase not found in phrase index: "Parenti-mignot neurodevelopmental syndrome"
Page 1
Hypothalamic syndrome.
Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM. Müller HL, et al. Nat Rev Dis Primers. 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. Nat Rev Dis Primers. 2022. PMID: 35449162 Review.
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch …
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most com …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recu …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Restless sleep in children: A systematic review.
DelRosso LM, Picchietti DL, Spruyt K, Bruni O, Garcia-Borreguero D, Kotagal S, Owens JA, Simakajornboon N, Ferri R; International Restless Legs Syndrome Study Group (IRLSSG). DelRosso LM, et al. Sleep Med Rev. 2021 Apr;56:101406. doi: 10.1016/j.smrv.2020.101406. Epub 2020 Dec 1. Sleep Med Rev. 2021. PMID: 33341437 Free article. Review.
The studies were grouped under several pathologic/condition categories: sleep-disordered breathing (n = 19); adenotonsillectomy (n = 7); respiratory disorders, otitis media, and smoke exposure (n = 12); sleep-related movement disorders and restless sleep disorder (n = 11); neurol …
The studies were grouped under several pathologic/condition categories: sleep-disordered breathing (n = 19); adenotonsillectomy (n = 7); res …
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. ...For …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial featur …
Effects of air pollution on the nervous system and its possible role in neurodevelopmental and neurodegenerative disorders.
Costa LG, Cole TB, Dao K, Chang YC, Coburn J, Garrick JM. Costa LG, et al. Pharmacol Ther. 2020 Jun;210:107523. doi: 10.1016/j.pharmthera.2020.107523. Epub 2020 Mar 9. Pharmacol Ther. 2020. PMID: 32165138 Free PMC article. Review.
Human and animal studies suggest that air pollution may cause developmental neurotoxicity, and may contribute to the etiology of neurodevelopmental disorders, including autism spectrum disorder. In addition, air pollution exposure has been associated with increased express …
Human and animal studies suggest that air pollution may cause developmental neurotoxicity, and may contribute to the etiology of neurodev …
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language deficits. Neurodevelop …
Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain d …
Craniosynostosis: Neonatal Perspectives.
Bautista G. Bautista G. Neoreviews. 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. Neoreviews. 2021. PMID: 33795400
Multisuture synostoses are typically associated with distinct craniofacial syndromes, including Muenke syndrome, Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, and are thus categorized under syndromic craniosynostoses. ...Infant …
Multisuture synostoses are typically associated with distinct craniofacial syndromes, including Muenke syndrome, Apert synd …
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
BACKGROUND: Dysfunction of histone methyltransferases and chromatin modifiers has been implicated in complex neurodevelopmental syndromes and cancers. SETD1B encodes a lysine-specific methyltransferase that assists in transcriptional activation of genes by depositin …
BACKGROUND: Dysfunction of histone methyltransferases and chromatin modifiers has been implicated in complex neurodevelopmental sy …
Neuroprotective strategies in anesthesia-induced neurotoxicity.
Andropoulos DB. Andropoulos DB. Best Pract Res Clin Anaesthesiol. 2023 Mar;37(1):52-62. doi: 10.1016/j.bpa.2022.11.005. Epub 2022 Dec 5. Best Pract Res Clin Anaesthesiol. 2023. PMID: 37295854 Review.
Some clinical studies, including controlled trials, both prospective and ambidirectional in design, indicate an association between any exposure (single or multiple) to anesthesia and surgery at a young age, generally less than 3-4 years, and later behavioral and neurodevelopm …
Some clinical studies, including controlled trials, both prospective and ambidirectional in design, indicate an association between any expo …
3,248 results