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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 145, doi. 10.1007/s10048-019-00581-6
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- Article
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1358334
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- Article
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1198821
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- Article
Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1198821
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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Article
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 855, doi. 10.1002/acn3.51040
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- Article
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00631
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- Article
Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.
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- European Journal of Endocrinology, 2015, v. 173, n. 1, p. 111, doi. 10.1530/EJE-15-0028
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- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Article
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
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- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-45
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- Article
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-52
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- Article
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00955
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- Article
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0126-7
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- Article
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
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- Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
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- Article
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 221, doi. 10.1002/ajmg.a.36815
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- Article
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 611, doi. 10.1002/ajmg.a.35814
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- Article
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1386
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- Article