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Tonate Virus and Fetal Abnormalities, French Guiana, 2019.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
- By:
- Publication type:
- Article
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 91, doi. 10.1093/brain/awad347
- By:
- Publication type:
- Article
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Three-Dimensional Modelization of the Female Human Inferior Hypogastric Plexus: Implications for Nerve-Sparing Radical Hysterectomy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.20898
- By:
- Publication type:
- Article
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26447-w
- By:
- Publication type:
- Article
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2325, doi. 10.1002/ajmg.a.40505
- By:
- Publication type:
- Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
- By:
- Publication type:
- Article
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
- By:
- Publication type:
- Article
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
- By:
- Publication type:
- Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
- By:
- Publication type:
- Article
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
- By:
- Publication type:
- Article
How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.
- Published in:
- Journal of Ultrasound in Medicine, 2018, v. 37, n. 7, p. 1807, doi. 10.1002/jum.14522
- By:
- Publication type:
- Article
Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Correlation between colored Doppler echography of fetal thyroid goiters and histologic study.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
- By:
- Publication type:
- Article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
- By:
- Publication type:
- Article
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 729, doi. 10.1038/sj.ejhg.5201217
- By:
- Publication type:
- Article
Study of Human T21 Placenta Suggests a Potential Role of Mesenchymal Spondin-2 in Placental Vascular Development.
- Published in:
- Endocrinology, 2019, v. 160, n. 3, p. 684, doi. 10.1210/en.2018-00826
- By:
- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
- By:
- Publication type:
- Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
CD4<sup>+</sup>CD8<sup>+</sup> T-Lymphocytes in Xenogeneic and Human Graft-versus-Host Disease.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.579776
- By:
- Publication type:
- Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
- By:
- Publication type:
- Article
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
- By:
- Publication type:
- Article
Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.
- Published in:
- Cerebral Cortex, 2017, v. 27, n. 1, p. 358, doi. 10.1093/cercor/bhv22
- By:
- Publication type:
- Article
Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.
- Published in:
- Cerebral Cortex, 2016, v. 26, n. 3, p. 1255, doi. 10.1093/cercor/bhv079
- By:
- Publication type:
- Article
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
- By:
- Publication type:
- Article
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 4, p. 761, doi. 10.1007/s00401-021-02355-7
- By:
- Publication type:
- Article
Identification of a novel brain-specific and reelin-regulated gene that encodes a protein colocalized with synapsin.
- Published in:
- European Journal of Neuroscience, 2004, v. 20, n. 3, p. 603, doi. 10.1111/j.1460-9568.2004.03473.x
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- Publication type:
- Article
Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 3, p. 214, doi. 10.1002/pd.4522
- By:
- Publication type:
- Article
Fetal serum [alpha]-1 microglobulin for renal function assessment: comparison with [beta]2-microglobulin and cystatin C.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Fetal serum α-1 microglobulin for renal function assessment: comparison with β2-microglobulin and cystatin C.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 8, p. 775, doi. 10.1002/pd.4128
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- Publication type:
- Article
Application of a new molecular technique for the genetic evaluation of products of conception.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 1, p. 32, doi. 10.1002/pd.4004
- By:
- Publication type:
- Article
Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 11, p. 1071, doi. 10.1002/pd.3960
- By:
- Publication type:
- Article
Prenatal phenotype of congenital hyperparathyroidism.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 9, p. 906, doi. 10.1002/pd.3912
- By:
- Publication type:
- Article
Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 10, p. 926, doi. 10.1002/pd.1803
- By:
- Publication type:
- Article
Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 11, p. 2401, doi. 10.1007/s00417-019-04462-4
- By:
- Publication type:
- Article
Decision-making based on sFlt-1/PlGF ratios: are immunoassay results interchangeable for diagnosis or prognosis of preeclampsia?
- Published in:
- 2021
- By:
- Publication type:
- Letter