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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with visual defects and brain anomalies"
Page 1
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM. O'Shea TM. Clin Obstet Gynecol. 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. Clin Obstet Gynecol. 2008. PMID: 18981805 Free PMC article. Review.
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and periventricular leukomalacia. ...Mortality risk increases incrementally with increasing number of impairments, including intel …
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malfo …
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. ...RESULTS: We report on the detailed clinical characterization of a large cohort of in …
ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive faci …
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ… See abstract for full author list ➔ Cogné B, et al. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) an …
The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary …
Underconnectivity Between Visual and Salience Networks and Links With Sensory Abnormalities in Autism Spectrum Disorders.
Jao Keehn RJ, Pueschel EB, Gao Y, Jahedi A, Alemu K, Carper R, Fishman I, Müller RA. Jao Keehn RJ, et al. J Am Acad Child Adolesc Psychiatry. 2021 Feb;60(2):274-285. doi: 10.1016/j.jaac.2020.02.007. Epub 2020 Feb 29. J Am Acad Child Adolesc Psychiatry. 2021. PMID: 32126259 Free PMC article.
RESULTS: Functional underconnectivity was found in the ASD group between left AI and bilateral visual cortices. Moreover, in an ASD subgroup with more atypical visual sensory profiles, FC was positively correlated with abnormal social motivational responsivity. CONC …
RESULTS: Functional underconnectivity was found in the ASD group between left AI and bilateral visual cortices. Moreover, in an ASD s …
Brain microstructural antecedents of visual difficulties in infants born very preterm.
Chandwani R, Harpster K, Kline JE, Mehta V, Wang H, Merhar SL, Schwartz TL, Parikh NA. Chandwani R, et al. Neuroimage Clin. 2022;34:102987. doi: 10.1016/j.nicl.2022.102987. Epub 2022 Mar 9. Neuroimage Clin. 2022. PMID: 35290855 Free PMC article.
Infants born very preterm (VPT) are at risk of later visual problems. Although neonatal screening can identify ophthalmologic abnormalities, subtle perinatal brain injury and/or delayed brain maturation may be significant contributors to complex vis …
Infants born very preterm (VPT) are at risk of later visual problems. Although neonatal screening can identify ophthalmologic abno …
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Unda BK, et al. Mol Psychiatry. 2023 Apr;28(4):1747-1769. doi: 10.1038/s41380-022-01937-5. Epub 2023 Jan 6. Mol Psychiatry. 2023. PMID: 36604605 Free PMC article.
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. ...Importantly, restoring OTUD7A or Ankyrin-G expression …
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the …
Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.
Parker DA, Cubells JF, Imes SL, Ruban GA, Henshey BT, Massa NM, Walker EF, Duncan EJ, Ousley OY. Parker DA, et al. BMC Psychiatry. 2023 Jun 13;23(1):425. doi: 10.1186/s12888-023-04888-5. BMC Psychiatry. 2023. PMID: 37312091 Free PMC article.
Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-related immune deficits, dysmorphic facial features, neurodevelopmental disorders, including autism, early cognitive decline, sch …
Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-rel …
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. ...Abnormal vision and/or hearing, progressive spasticity, choreo …
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders …
Biochemical, Biomedical and Metabolic Aspects of Imidazole-Containing Dipeptides with the Inherent Complexity to Neurodegenerative Diseases and Various States of Mental Well-Being: A Challenging Correction and Neurotherapeutic Pharmaceutical Biotechnology for Treating Cognitive Deficits, Depression and Intellectual Disabilities.
Babizhayev MA. Babizhayev MA. Curr Pharm Biotechnol. 2014;15(8):738-78. doi: 10.2174/1389201015666140827104918. Curr Pharm Biotechnol. 2014. PMID: 25158972 Review.
Approximately 82% of the U.S. population will experience normal age-related cognitive decline, as compared to the precipitous losses that are associated with dementing disorders. Interventions designed to promote health and function through everyday activity and specific p …
Approximately 82% of the U.S. population will experience normal age-related cognitive decline, as compared to the precipitous losses that ar …
Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network.
Ho NT, Kroner B, Grinspan Z, Fureman B, Farrell K, Zhang J, Buelow J, Hesdorffer DC; Rare Epilepsy Network Steering Committee. Ho NT, et al. J Pediatr. 2018 Dec;203:249-258.e5. doi: 10.1016/j.jpeds.2018.07.055. Epub 2018 Sep 5. J Pediatr. 2018. PMID: 30195559
The most common comorbidity classes were learning/developmental disability (71%), mental health issues (71%), sleep disorders (60%), brain abnormalities (52%), oral issues (49%), bone-joint issues (42%), hyper/hypotonia (42%), and eye-vision disorde …
The most common comorbidity classes were learning/developmental disability (71%), mental health issues (71%), sleep disorders (60%), …
67 results