Found: 30
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Morphological and genetic causes of fetal cardiomyopathies.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 63, doi. 10.1111/cge.14333
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- Article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
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- Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
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- Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
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- Article
Congenital heart defects in the fetus, classifications and embryology: cladistics or phenetics?
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- Cardiology in the Young, 2022, v. 32, p. S71
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- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
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- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
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- Article
Congenital heart defects in the fetus, classifications and embryology: cladistics or phenetics?
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- Cardiology in the Young, 2022, v. 32, n. S2, p. S71, doi. 10.1017/S1047951122001950
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- Publication type:
- Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
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- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
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- Article
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
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- Pediatric Nephrology, 2021, v. 36, n. 8, p. 2361, doi. 10.1007/s00467-021-04953-9
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- Article
Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.
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- Journal of Pathology, 2021, v. 254, n. 1, p. 92, doi. 10.1002/path.5640
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- Article
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
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- Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840
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- Article
Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface.
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- Journal of Anatomy, 2020, v. 236, n. 2, p. 325, doi. 10.1111/joa.13097
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- Article
Adaptive and Innate Immune Cells in Fetal Human Cytomegalovirus-Infected Brains.
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- Microorganisms, 2020, v. 8, n. 2, p. 176, doi. 10.3390/microorganisms8020176
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- Article
Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations.
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- 2020
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- Publication type:
- journal article
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
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- 2019
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- Publication type:
- journal article
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.
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- Brain Pathology, 2019, v. 29, n. 1, p. 114, doi. 10.1111/bpa.12644
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- Article
Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs.
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- 2019
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- Publication type:
- journal article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
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- Article
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
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- Birth Defects Research, 2017, v. 109, n. 19, p. 1586, doi. 10.1002/bdr2.1093
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- Article
Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep.
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- Child's Nervous System, 2017, v. 33, n. 7, p. 1177, doi. 10.1007/s00381-017-3461-7
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- Publication type:
- Article
PPARγ Is Activated during Congenital Cytomegalovirus Infection and Inhibits Neuronogenesis from Human Neural Stem Cells.
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- PLoS Pathogens, 2016, v. 12, n. 4, p. 1, doi. 10.1371/journal.ppat.1005547
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- Article
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904
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- Article
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
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- Annals of Neurology, 2015, v. 78, n. 3, p. 387, doi. 10.1002/ana.24446
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- Article
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 171, doi. 10.1093/hmg/ddt409
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- Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
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- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
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- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Publication type:
- Article
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2797, doi. 10.1002/ajmg.a.35598
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- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Article
Inner ear lesions in congenital cytomegalovirus infection of human fetuses.
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- Acta Neuropathologica, 2011, v. 122, n. 6, p. 763, doi. 10.1007/s00401-011-0895-y
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- Publication type:
- Article
Successful Treatment of a Severe Second Trimester Fetomaternal Hemorrhage by Repeated Fetal Intravascular Transfusions.
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- Fetal Diagnosis & Therapy, 2008, v. 24, n. 4, p. 503, doi. 10.1159/000191398
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- Publication type:
- Article
Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion.
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- Prenatal Diagnosis, 2003, v. 23, n. 7, p. 607, doi. 10.1002/pd.657
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- Publication type:
- Article