234 results on '"MICROCEPHALY"'
Search Results
2. Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases
3. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders
4. Protein Phosphatase 2ACα Regulates ATR-Mediated Endogenous DNA Damage Response Against Microcephaly
5. Zika virus as a new pathogenic agent within the Toxoplasma gondii, Rubella virus, Cytomegalovirus, and Herpes simplex (TORCH) virus family: where do we stand?
6. Congenital anomalies during Covid-19: artifact of surveillance or a real TORCH?
7. Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype
8. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
9. Fetal Zika virus inoculation in macaques revealed control of the fetal viral load during pregnancy
10. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report
11. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport
12. Feeding characteristics and growth among children with prenatal exposure to Zika virus with and without microcephaly in the microcephaly epidemic research group pediatric cohort
13. Polyhydramnios associated with rare genetic syndromes: two case reports
14. Risk factors of adverse birth outcomes among a cohort of pregnant women in Coastal Kenya, 2017–2019
15. Emanuel syndrome due to unusual pattern
16. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
17. Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
18. Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
19. Zika Virus Outbreaks: a Narrative Review
20. Interplay Between Zika Virus-Induced Autophagy and Neural Stem Cell Fate Determination
21. Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene
22. Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene
23. Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype
24. WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice
25. Human Cytomegalovirus IE2 Disrupts Neural Progenitor Development and Induces Microcephaly in Transgenic Mouse
26. Serial head circumference measurements should be used to classify congenital microcephaly
27. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
28. A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation
29. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
30. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
31. Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene
32. Immunological imbalance in microcephalic children with congenital Zika virus syndrome
33. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
34. Deficiency of Murine UFM1-Specific E3 Ligase Causes Microcephaly and Inflammation
35. Ocular findings of congenital Zika virus infection with microcephaly
36. Zika Virus Strains and Dengue Virus Induce Distinct Proteomic Changes in Neural Stem Cells and Neurospheres
37. Defective replication stress response linked to microcephaly
38. Two-year follow-up of children with congenital Zika syndrome: the evolution of clinical patterns
39. Prevalence of microcephaly and Zika virus infection in a pregnancy cohort in Kenya, 2017–2019
40. Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience
41. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review
42. Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome
43. Population-based surveillance for congenital zika virus syndrome: a latent class analysis of recorded cases from 2015–2018
44. Congenital anomalies during the 2015–2018 Zika virus epidemic: a population-based cross-sectional study
45. SFM Interim Practice Recommendations for Zika Virus Infection in Pregnancy
46. Measuring the Head Circumference on MRI in Children: an Interrater Study
47. Cytokinetic Abscission Regulation in Neural Stem Cells and Tissue Development
48. Hydrocephalus and occipital encephaloceles: presentation of a series and review of the literature
49. Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
50. Geographic distribution of live births and infant mortality from congenital anomalies in Brazil, 2012–2017
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