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Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 1, doi. 10.1007/s00439-005-0097-6
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- Publication type:
- Article
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
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- Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y
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- Publication type:
- Article
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
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- Neurogenetics, 2013, v. 14, n. 2, p. 133, doi. 10.1007/s10048-013-0362-0
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- Publication type:
- Article
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
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- Neurogenetics, 2012, v. 13, n. 1, p. 49, doi. 10.1007/s10048-011-0307-4
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- Publication type:
- Article
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00464-w
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- Publication type:
- Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
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- Publication type:
- Article
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
- Published in:
- 2019
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- Publication type:
- journal article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Article
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
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- Acta Neuropathologica, 2011, v. 121, n. 2, p. 149, doi. 10.1007/s00401-010-0768-9
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- Article
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
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- Acta Neuropathologica, 2010, v. 120, n. 4, p. 503, doi. 10.1007/s00401-010-0692-z
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- Article
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
- Published in:
- 2010
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- Publication type:
- Report
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01207-5
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- Publication type:
- Article
Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus.
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- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809540
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- Publication type:
- Article
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
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- Publication type:
- Article
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885
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- Publication type:
- Article
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
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- European Journal of Human Genetics, 2006, v. 14, n. 9, p. 1009, doi. 10.1038/sj.ejhg.5201661
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- Publication type:
- Article
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
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- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1186, doi. 10.1038/sj.ejhg.5201480
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- Publication type:
- Article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
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- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
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- Publication type:
- Article
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 415, doi. 10.1038/sj.ejhg.5201155
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- Publication type:
- Article
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies.
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- Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/561713
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- Publication type:
- Article
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 757, doi. 10.1002/pd.1970150812
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- Publication type:
- Article
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0030778
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- Publication type:
- Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
- Published in:
- Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
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- Publication type:
- Article
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 125, doi. 10.1007/s00439-022-02473-6
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- 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
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- Publication type:
- Article
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
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- Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
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- Publication type:
- Article
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1110, doi. 10.1002/humu.21173
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- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
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- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
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- Publication type:
- Article
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
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- Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
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- Publication type:
- Article
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
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- Human Mutation, 2004, v. 24, n. 5, p. 417, doi. 10.1002/humu.20092
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- Publication type:
- Article
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
- Published in:
- Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A
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- Publication type:
- Article
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
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- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-29
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- Publication type:
- Article
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 1979, doi. 10.1093/brain/awh216
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- Publication type:
- Article
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1239, doi. 10.1002/humu.24384
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- Publication type:
- Article
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 989, doi. 10.1002/humu.21528
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- Publication type:
- Article
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 3, p. 187, doi. 10.3390/life11030187
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- Publication type:
- Article
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2257, doi. 10.1002/ajmg.a.61317
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- Publication type:
- Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
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- Publication type:
- Article
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
- Published in:
- 2002
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- Publication type:
- journal article
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 373, doi. 10.1002/mgg3.294
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- Publication type:
- Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
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- Publication type:
- Article
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1825, doi. 10.1093/hmg/7.11.1825
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- Publication type:
- Article
Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus.
- Published in:
- Frontiers in Cellular Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fncel.2020.576028
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- Publication type:
- Article