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35 results

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan....
The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health …
The Genetics of Pituitary Adenomas.
Tatsi C, Stratakis CA. Tatsi C, et al. J Clin Med. 2019 Dec 21;9(1):30. doi: 10.3390/jcm9010030. J Clin Med. 2019. PMID: 31877737 Free PMC article. Review.
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY, Cho JH, Kim GY, Mansfield BC. Chou JY, et al. J Inherit Metab Dis. 2018 Nov;41(6):1007-1014. doi: 10.1007/s10545-018-0180-5. Epub 2018 Apr 16. J Inherit Metab Dis. 2018. PMID: 29663270 Review.
The results demonstrate that the liver-directed gene transfer and expression safely corrects metabolic abnormalities and prevents hepatocellular adenoma (HCA) development. However, a second vector system may be required to correct myeloid and renal dysfunction in GSD-Ib. . …
The results demonstrate that the liver-directed gene transfer and expression safely corrects metabolic abnormalities and prevents hepatocell …
Gestational age at term delivery and children's neurocognitive development.
Gleason JL, Gilman SE, Sundaram R, Yeung E, Putnick DL, Vafai Y, Saha A, Grantz KL. Gleason JL, et al. Int J Epidemiol. 2022 Jan 6;50(6):1814-1823. doi: 10.1093/ije/dyab134. Epub 2021 Jul 15. Int J Epidemiol. 2022. PMID: 34999875 Free PMC article.
METHODS: This secondary analysis included 39 199 live-born singleton children of women who were admitted to the hospital in spontaneous labour from the US Collaborative Perinatal Project (1959-76). At each week of term gestation, we evaluated development at 8 months using …
METHODS: This secondary analysis included 39 199 live-born singleton children of women who were admitted to the hospital in spontaneous labo …
Activity-dependent tuning of intrinsic excitability in mouse and human neurogliaform cells.
Chittajallu R, Auville K, Mahadevan V, Lai M, Hunt S, Calvigioni D, Pelkey KA, Zaghloul KA, McBain CJ. Chittajallu R, et al. Elife. 2020 Jun 4;9:e57571. doi: 10.7554/eLife.57571. Elife. 2020. PMID: 32496194 Free PMC article.
We demonstrate that this prominent neuronal subtype, embedded in both mouse and human neural circuits, undergo remarkably similar activity-dependent modulation manifesting as epochs of enhanced intrinsic excitability. In principle, these evolutionary conserved plasticity r …
We demonstrate that this prominent neuronal subtype, embedded in both mouse and human neural circuits, undergo remarkably similar act …
Skill-experience transactions across development: Bidirectional relations between child core language and the child's home learning environment.
Bornstein MH, Putnick DL, Esposito G. Bornstein MH, et al. Dev Psychol. 2020 Oct;56(10):1842-1854. doi: 10.1037/dev0001092. Epub 2020 Jul 16. Dev Psychol. 2020. PMID: 32672997 Free PMC article.
The transaction of children's core language skill and their home learning environment was assessed across 5 waves from infancy (15 months) up to adolescence (11 years) in 1,751 low-socioeconomic status families. Child core language skill and the quality of the home learnin …
The transaction of children's core language skill and their home learning environment was assessed across 5 waves from infancy (15 months) u …
Dyadic development in the family: Stability in mother-child relationship quality from infancy to adolescence.
Bornstein MH, Putnick DL. Bornstein MH, et al. J Fam Psychol. 2021 Jun;35(4):445-456. doi: 10.1037/fam0000794. Epub 2020 Aug 6. J Fam Psychol. 2021. PMID: 32757574 Free PMC article.
Using a longitudinal design, for the first time, this study traces the developmental stability of the dyadic construct of mother-child relationship quality from infancy to adolescence. Multiple age-appropriate measures converging on the construct of relationship quality we …
Using a longitudinal design, for the first time, this study traces the developmental stability of the dyadic construct of mother-child …
Environmental harshness and unpredictability, life history, and social and academic behavior of adolescents in nine countries.
Chang L, Lu HJ, Lansford JE, Skinner AT, Bornstein MH, Steinberg L, Dodge KA, Chen BB, Tian Q, Bacchini D, Deater-Deckard K, Pastorelli C, Alampay LP, Sorbring E, Al-Hassan SM, Oburu P, Malone PS, Di Giunta L, Tirado LMU, Tapanya S. Chang L, et al. Dev Psychol. 2019 Apr;55(4):890-903. doi: 10.1037/dev0000655. Epub 2018 Dec 3. Dev Psychol. 2019. PMID: 30507220 Free PMC article.
To survive, humans and other animals have developed sets of psychological and physiological adaptations known as life history (LH) tradeoff strategies in response to various safety constraints. Evolutionarily selected LH strategies in turn regulate development and behavior …
To survive, humans and other animals have developed sets of psychological and physiological adaptations known as life history (LH) tradeoff …
Language development in children of clinically depressed mothers in remission: Early experience effects.
Bornstein MH, Henry LM, Manian N. Bornstein MH, et al. Dev Psychol. 2021 Jun;57(6):876-887. doi: 10.1037/dev0001182. Dev Psychol. 2021. PMID: 34424006 Free PMC article.
The groups did not differ on most sociodemographic indices, and analyses controlled for residual group differences in maternal education and child birth order. Children of early clinically depressed mothers understood fewer words at 15 months (by maternal report on the Mac …
The groups did not differ on most sociodemographic indices, and analyses controlled for residual group differences in maternal education and …
35 results