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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
- Published in:
- 2019
- By:
- Publication type:
- letter
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
- Published in:
- Haemophilia, 2022, v. 28, n. 1, p. 117, doi. 10.1111/hae.14402
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- Publication type:
- Article
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941
- By:
- Publication type:
- Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 4, p. 478, doi. 10.1002/pd.6106
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- Publication type:
- Article
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 4, p. 209, doi. 10.1159/000500215
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- Publication type:
- Article
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
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- Publication type:
- Article
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 273, doi. 10.3390/genes14020273
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- Publication type:
- Article
New disease gene location and high genetic heterogeneity in idiopathic scoliosis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 865, doi. 10.1038/ejhg.2011.31
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- Publication type:
- Article
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
- Published in:
- Nature Genetics, 2013, v. 45, n. 9, p. 1061, doi. 10.1038/ng.2726
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- Publication type:
- Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
- By:
- Publication type:
- Article
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1310, doi. 10.1007/s10875-022-01287-5
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- Publication type:
- Article
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-019-0946-0
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- Publication type:
- Article
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 5, p. 827, doi. 10.1002/ccr3.1450
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- Publication type:
- Article
Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013750
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- Publication type:
- Article
Functional variants of P0C5 identified in patients with idiopathic scoliosis.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 3, p. 1124, doi. 10.1172/JCI77262
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- Publication type:
- Article
Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.872645
- By:
- Publication type:
- Article
An 800 kb deletion at 17q23.2 including the MED13 ( THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 400, doi. 10.1002/ajmg.a.34222
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- Publication type:
- Article
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1706, doi. 10.1002/ajmg.a.34004
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- Publication type:
- Article
Array-CGH study of partial trisomy 9p without mental retardation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1735, doi. 10.1002/ajmg.a.34044
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- Publication type:
- Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
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- Publication type:
- Article
Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
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- Publication type:
- Article
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 1993, doi. 10.1002/humu.23845
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- Publication type:
- Article
Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 3, p. 951, doi. 10.1002/epi4.12920
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- Publication type:
- Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
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- Publication type:
- Article
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 654, doi. 10.1002/ajmg.a.38093
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- Publication type:
- Article
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 164, doi. 10.1002/ajmg.a.36759
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- Publication type:
- Article
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2025, doi. 10.1002/ajmg.a.36547
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- Publication type:
- Article
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1571, doi. 10.1002/ajmg.a.36484
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- Publication type:
- Article
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162
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- Publication type:
- Article
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2564, doi. 10.1002/ajmg.a.36079
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- Publication type:
- Article
Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 331, doi. 10.1002/ajmg.a.35708
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- Publication type:
- Article
Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3174, doi. 10.1002/ajmg.a.35588
- By:
- Publication type:
- Article
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 12, p. 3377, doi. 10.1111/epi.17776
- By:
- Publication type:
- Article
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 2, p. 370, doi. 10.1111/epi.12502
- By:
- Publication type:
- Article
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 9, p. 1526, doi. 10.1111/j.1528-1167.2012.03559.x
- By:
- Publication type:
- Article
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 2, p. 72, doi. 10.1159/000506319
- By:
- Publication type:
- Article
Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 111, doi. 10.1159/000442265
- By:
- Publication type:
- Article
Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.939
- By:
- Publication type:
- Article