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Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
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- Publication type:
- Article
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5433, doi. 10.1007/s10072-021-05221-2
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- Publication type:
- Article
Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 2, p. 117, doi. 10.1007/s10072-009-0157-0
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- Publication type:
- Article
Erratum to: Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 1, p. 81, doi. 10.1034/j.1399-0004.2000.580116.x
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- Publication type:
- Article
Cost effective assay choice for rare disease study designs.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0226-9
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- Publication type:
- Article
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323
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- Article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
- Published in:
- 2019
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- Publication type:
- journal article
‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22.
- Published in:
- Journal of Genetics, 2019, v. 98, n. 2, p. N.PAG, doi. 10.1007/s12041-019-1107-0
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- Publication type:
- Article
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
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- Neuroradiology, 2023, v. 65, n. 2, p. 401, doi. 10.1007/s00234-022-03056-y
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- Publication type:
- Article
Spinal involvement in pediatric familial cavernous malformation syndrome.
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- Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
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- Publication type:
- Article
Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.
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- Neuroradiology, 2016, v. 58, n. 1, p. 33, doi. 10.1007/s00234-015-1601-x
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- Publication type:
- Article
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1669
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- Publication type:
- Article
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 2, p. 98, doi. 10.1007/s10038-005-0329-6
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- Publication type:
- Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
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- Publication type:
- Article
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
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- Publication type:
- Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
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- Publication type:
- Article
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
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- Publication type:
- Article
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
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- Publication type:
- Article
A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593
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- Publication type:
- Article
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212
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- Publication type:
- Article
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 646, doi. 10.1002/ajmg.a.36933
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- Publication type:
- Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
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- Publication type:
- Article
Sacral agenesis: a pilot whole exome sequencing and copy number study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0359-2
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- Publication type:
- Article
Erratum to: Genetic Screening of Pediatric Cavernous Malformations.
- Published in:
- 2017
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- Publication type:
- Erratum
Genetic Screening of Pediatric Cavernous Malformations.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 60, n. 2, p. 232, doi. 10.1007/s12031-016-0806-8
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- Publication type:
- Article
Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 49, n. 3, p. 582, doi. 10.1007/s12031-012-9871-9
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- Publication type:
- Article
De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations.
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- Journal of Molecular Neuroscience, 2012, v. 47, n. 3, p. 475, doi. 10.1007/s12031-012-9741-5
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- Publication type:
- Article
Chiari malformation type I: what information from the genetics?
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- Child's Nervous System, 2019, v. 35, n. 10, p. 1665, doi. 10.1007/s00381-019-04322-w
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- Publication type:
- Article
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.
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- Child's Nervous System, 2018, v. 34, n. 7, p. 1311, doi. 10.1007/s00381-018-3833-7
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- Publication type:
- Article
Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study.
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- Child's Nervous System, 2011, v. 27, n. 7, p. 1073, doi. 10.1007/s00381-010-1372-y
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- Publication type:
- Article
Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.741062
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- Publication type:
- Article
PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110438
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- Publication type:
- Article
Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of <i>De Novo</i> Pathogenic Microdeletions and Microduplications in the Offspring.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057910
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- Publication type:
- Article
International Consensus Statement on the Radiologic Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.
- Published in:
- American Journal of Neuroradiology, 2024, v. 45, n. 6, p. 673, doi. 10.3174/ajnr.A8117
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- Publication type:
- Article
Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 17, p. 8957, doi. 10.3390/ijerph18178957
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- Publication type:
- Article
A Novel Xp22.13 Microdeletion in Nance-Horan Syndrome.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 11, p. 866, doi. 10.1002/bdr2.1032
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- Publication type:
- Article
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
- Published in:
- Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
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- Publication type:
- Article
Reduced folate carrier polymorphism (80A?G) and neural tube defects.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200946
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- Publication type:
- Article
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 95, doi. 10.1515/jpem-2018-0272
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- Publication type:
- Article
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00664
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- Publication type:
- Article
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 4, p. 1314, doi. 10.1002/epi4.12798
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- Publication type:
- Article
High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastoma.
- Published in:
- Neuro-Oncology, 2011, v. 13, n. 5, p. 500, doi. 10.1093/neuonc/nor022
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- Publication type:
- Article
Rhabdoid meningioma of the tentorium with expression of desmin in a 12-year-old Turner syndrome patient.
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 2, p. 205, doi. 10.1007/s00401-005-1048-y
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- Publication type:
- Article
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113
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- Publication type:
- Article
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
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- Publication type:
- Article
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 15, p. 1161, doi. 10.1002/bdr2.1936
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- Publication type:
- Article
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 14, p. 1085, doi. 10.1002/bdr2.1711
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- Publication type:
- Article
Synthesis of a 60 kD nuclear DNA binding protein induced by cytosine arabinoside in the HL 60 leukemic cell line.
- Published in:
- European Journal of Haematology, 1990, v. 44, n. 3, p. 150, doi. 10.1111/j.1600-0609.1990.tb00368.x
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- Publication type:
- Article
Characterization of Glioma Stem Cells Through Multiple Stem Cell Markers and Their Specific Sensitization to Double-Strand Break-Inducing Agents by Pharmacological Inhibition of Ataxia Telangiectasia Mutated Protein.
- Published in:
- Brain Pathology, 2012, v. 22, n. 5, p. 677, doi. 10.1111/j.1750-3639.2012.00566.x
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- Publication type:
- Article