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

Year Number of Results
1974 1
1987 1
1997 1
2003 1
2005 1
2006 2
2007 1
2011 1
2014 2
2015 2
2017 1
2018 1
2020 1
2022 3
2023 1
2024 0

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18 results

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Page 1
The use of intravenous magnesium in non-preeclamptic pregnant women: fetal/neonatal neuroprotection.
Jacquemyn Y, Zecic A, Van Laere D, Roelens K. Jacquemyn Y, et al. Arch Gynecol Obstet. 2015 May;291(5):969-75. doi: 10.1007/s00404-014-3581-1. Epub 2014 Dec 12. Arch Gynecol Obstet. 2015. PMID: 25501980 Review.
After long-term high-dose intravenous administration of magnesium, maternal and neonatal adverse effects such as maternal and neonatal hypotonia and osteoporosis and specific fetal/neonatal cerebral lesions have been described. ...Randomized trials comparing …
After long-term high-dose intravenous administration of magnesium, maternal and neonatal adverse effects such as maternal and neonatal …
Neonatal Hypotonia Following in Utero Exposure to Antidepressant Drugs.
Desaunay P, Dolladille C, Chrétien B, Eude LG, Fedrizzi S, Alexandre C, Apter G, Alexandre J, Guénolé F. Desaunay P, et al. J Pediatr. 2022 Jun;245:222-226.e2. doi: 10.1016/j.jpeds.2022.02.028. Epub 2022 Feb 19. J Pediatr. 2022. PMID: 35189177
Associations between fetal exposure to antidepressants and neonatal hypotonia were studied using VigiBase and the French PharmacoVigilance Database. ...Neonatal hypotonia may be associated with in utero exposure to antidepressants....
Associations between fetal exposure to antidepressants and neonatal hypotonia were studied using VigiBase and the French Pharm …
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG. Todd JJ, et al. J Neurol. 2018 Nov;265(11):2506-2524. doi: 10.1007/s00415-018-9033-2. Epub 2018 Aug 28. J Neurol. 2018. PMID: 30155738 Free PMC article. Clinical Trial.
We aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this rare disease population. Genetic and clinical data from 47 affected individuals were analyzed and variants mapped to the cryo-EM RyR1 structure. ...Three variants w …
We aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this rare disease population. Geneti …
The human health effects of DDT (dichlorodiphenyltrichloroethane) and PCBS (polychlorinated biphenyls) and an overview of organochlorines in public health.
Longnecker MP, Rogan WJ, Lucier G. Longnecker MP, et al. Annu Rev Public Health. 1997;18:211-44. doi: 10.1146/annurev.publhealth.18.1.211. Annu Rev Public Health. 1997. PMID: 9143718 Review.
Of more general interest, however, is evidence suggesting insidious effects of background exposure. Of particular concern is the finding of neonatal hypotonia or hyporeflexia in relation to PCB exposure. The epidemiologic data reviewed, considered in isolation, prov …
Of more general interest, however, is evidence suggesting insidious effects of background exposure. Of particular concern is the finding of …
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
INTRODUCTION: Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype characterized by severe neonatal hypotonia, hypertrophic cardiomyopathy (HCMP), facial dysmorphism, severe lactic acidosis, hypera …
INTRODUCTION: Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype char …
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.
Tedesco Silva LM, Sharma S, Schrauwen I, Margolesky J, Detyniecki K. Tedesco Silva LM, et al. Cerebellum. 2023 Oct;22(5):1029-1033. doi: 10.1007/s12311-022-01458-5. Epub 2022 Aug 20. Cerebellum. 2023. PMID: 35987951
This single case study describes a 26-year-old female born at term with mild intellectual disability, neonatal hypotonia, and a history of febrile seizures who presented with paroxysmal events since the age of 2. ...HECW2 variants are associated with neurodevelopmen …
This single case study describes a 26-year-old female born at term with mild intellectual disability, neonatal hypotonia, and …
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579669
Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia....
Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should …
PEHO syndrome: a study of five Argentinian patients.
Caraballo RH, Pozo AN, Gomez M, Semprino M. Caraballo RH, et al. Pediatr Neurol. 2011 Apr;44(4):259-64. doi: 10.1016/j.pediatrneurol.2010.11.007. Pediatr Neurol. 2011. PMID: 21397166
Progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome should be considered in infants with neonatal hypotonia, early onset of seizures (especially epileptic spasms), hypsarrhythmia, early loss of visual fixation, profound psychomot …
Progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome should be considered in infants with neonatal …
Case of spinal muscular atrophy type 0 with mild prognosis.
Kitaoka H, Shitara Y, Uchida Y, Kondo U, Omori I. Kitaoka H, et al. Pediatr Int. 2020 Jan;62(1):106-107. doi: 10.1111/ped.14047. Epub 2020 Jan 9. Pediatr Int. 2020. PMID: 31916364 No abstract available.
18 results