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Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
- Published in:
- Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
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- Publication type:
- Article
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40363-1
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- Publication type:
- Article
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
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- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
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- Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
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- Publication type:
- Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
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- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
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- Article
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
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- Journal of Genetic Counseling, 2019, v. 28, n. 6, p. 1107, doi. 10.1002/jgc4.1161
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- Publication type:
- Article
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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- Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y
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- Publication type:
- Article
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
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- Neurogenetics, 2012, v. 13, n. 1, p. 31, doi. 10.1007/s10048-011-0306-5
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- Publication type:
- Article
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
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- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2752, doi. 10.1093/hmg/ddt669
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- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
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- 2019
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- Correction Notice
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0623-0
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- Publication type:
- Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
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- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Publication type:
- Article
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
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- Publication type:
- Article
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
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- Publication type:
- Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
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- Publication type:
- Article
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
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- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295
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- Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
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- 2022
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- Publication type:
- journal article
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
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- 2020
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- Publication type:
- letter
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
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- 2018
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- Publication type:
- journal article
1136-P: Utility of Mining a Genetic Diagnostic Laboratory for Atypical Diabetes Cases.
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- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-1136-P
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- Publication type:
- Article
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
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- 2016
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- Publication type:
- journal article
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1119, doi. 10.1002/pd.4209
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- Publication type:
- Article
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 976, doi. 10.1002/pd.3945
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- Publication type:
- Article
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 986, doi. 10.1002/pd.3943
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- Publication type:
- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 611, doi. 10.1002/pd.3909
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- Publication type:
- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 344, doi. 10.1002/pd.3856
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- Publication type:
- Article
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 389, doi. 10.1002/pd.3849
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- Publication type:
- Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Article
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
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- Publication type:
- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Publication type:
- Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Publication type:
- Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237
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- Publication type:
- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Publication type:
- Article
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
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- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 436, doi. 10.1038/ejhg.2009.199
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- Publication type:
- Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
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- Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
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- Publication type:
- Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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- Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
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- Publication type:
- Article
Corrigendum: A copy number variation morbidity map of developmental delay.
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- Nature Genetics, 2014, v. 46, n. 9, p. 1040, doi. 10.1038/ng0914-1040a
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- Publication type:
- Article
A copy number variation morbidity map of developmental delay.
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- Nature Genetics, 2011, v. 43, n. 9, p. 838, doi. 10.1038/ng.909
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- Publication type:
- Article
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
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- Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
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- Publication type:
- Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
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- Nature Genetics, 2010, v. 42, n. 3, p. 203, doi. 10.1038/ng.534
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- Publication type:
- Article
Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens.
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- Fetal Diagnosis & Therapy, 2014, v. 36, n. 3, p. 231, doi. 10.1159/000360081
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- Publication type:
- Article
Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens.
- Published in:
- 2014
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- Publication type:
- Journal Article
Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.
- Published in:
- Biochemical Journal, 2022, v. 479, n. 13, p. 1441, doi. 10.1042/BCJ20220209
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- Publication type:
- Article
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10782
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- Publication type:
- Article
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 95, doi. 10.1111/cge.14522
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- Publication type:
- Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
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- Publication type:
- Article