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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.
A recent international workshop defined cerebral palsy as "a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain …
A recent international workshop defined cerebral palsy as "a group of permanent disorders of the development of movement and posture, …
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.
Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome a …
Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A str …
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined. ...Massive …
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and …
Dysfunctions of the retina and other elements of the visual system in schizophrenia.
Wójciak P, Stopa M, Rybakowski F. Wójciak P, et al. Psychiatr Pol. 2020 Aug 31;54(4):673-686. doi: 10.12740/PP/114952. Epub 2020 Aug 31. Psychiatr Pol. 2020. PMID: 33386720 Free article. Review. English, Polish.
They concern virtually the entire visual system, and, in accordance with the neurodevelopmental theory of schizophrenia, arise at the early stages of brain formation. ...The following paper discusses the most important changes in the visual apparatus …
They concern virtually the entire visual system, and, in accordance with the neurodevelopmental theory of schizophrenia, arise …
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 …
Scoring of brain magnetic resonance imaging and neurodevelopmental outcomes in infants with congenital heart disease.
Bhattacharjee I, Mohamed MA, Nandakumar V, Friedman NR, Ruggieri P, Aly H. Bhattacharjee I, et al. Early Hum Dev. 2022 Jun;169:105574. doi: 10.1016/j.earlhumdev.2022.105574. Epub 2022 Apr 25. Early Hum Dev. 2022. PMID: 35561519
The scoring system also included stage of myelination and presence of punctate hemorrhages. ...We envision establishing a standardized MRI scoring system to be performed on a large multi-center cohort that would help better predict and measure …
The scoring system also included stage of myelination and presence of punctate hemorrhages. ...We envision establishing a stan …
Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected.
Miller MT, Ventura L, Strömland K. Miller MT, et al. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19639653 Review.
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to dam …
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. …
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free PMC article.
METHODS: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders and international data sharing, 11 patients from 6 independent families with biallelic variants in SLC4A10 were identified. ...CONCLUSION: We provide evidence that p …
METHODS: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders and international data sh …
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J, Gérard X, Emerit MB, Areias J, Geny D, Dégardin J, Simonutti M, Guerquin MJ, Collin T, Viollet C, Billard JM, Métin C, Hubert L, Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A, Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. Diaz J, et al. Brain. 2020 Oct 1;143(10):2911-2928. doi: 10.1093/brain/awaa235. Brain. 2020. PMID: 33103737
The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. A similar profile was observed in the Yif1b knockout (KO) mouse model developed t …
The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargeme …
Potential role of primed microglia during obesity on the mesocorticolimbic circuit in autism spectrum disorder.
Trujillo Villarreal LA, Cárdenas-Tueme M, Maldonado-Ruiz R, Reséndez-Pérez D, Camacho-Morales A. Trujillo Villarreal LA, et al. J Neurochem. 2021 Feb;156(4):415-434. doi: 10.1111/jnc.15141. Epub 2020 Sep 9. J Neurochem. 2021. PMID: 32902852 Free article. Review.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disease which involves functional and structural defects in selective central nervous system (CNS) regions that harm function and individual ability to process and respond to external stimuli. ... …
Autism spectrum disorder (ASD) is a complex neurodevelopmental disease which involves functional and structural defects …
50 results