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Comparison of flow‐FISH and MM–qPCR telomere length assessment techniques for the screening of telomeropathies.
- Published in:
- Annals of the New York Academy of Sciences, 2020, v. 1466, n. 1, p. 93, doi. 10.1111/nyas.14248
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- Publication type:
- Article
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0629-x
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- Publication type:
- Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- 2010
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- Publication type:
- journal article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 19, doi. 10.1186/1750-1172-5-19
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- Publication type:
- Article
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
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- Publication type:
- Article
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
- Published in:
- 2020
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- Publication type:
- journal article
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
- Published in:
- 2020
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- Publication type:
- journal article
DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02116-y
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- Publication type:
- Article
Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1066176
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- Publication type:
- Article
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2252, doi. 10.1002/ajmg.a.61314
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- Publication type:
- Article
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 743, doi. 10.1002/ajmg.a.37492
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- Publication type:
- Article
No Major Contribution of IGF2 Variants to the Etiology of Sporadic 11p15-Associated Imprinting Disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 283, doi. 10.1002/ajmg.a.37416
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- Publication type:
- Article
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2815, doi. 10.1002/ajmg.a.35612
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- Publication type:
- Article
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 423, doi. 10.1002/ajmg.a.34412
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- Publication type:
- Article
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndromelike phenotypes.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0280-8
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- Publication type:
- Article
<italic>NLRP</italic> genes and their role in preeclampsia and multi-locus imprinting disorders.
- Published in:
- Journal of Perinatal Medicine, 2018, v. 46, n. 2, p. 169, doi. 10.1515/jpm-2016-0405
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- Publication type:
- Article
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01453-5
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- Publication type:
- Article
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01259-x
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- Publication type:
- Article
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 180, doi. 10.1038/ejhg.2014.72
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- Publication type:
- Article
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259
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- Publication type:
- Article
Quality assurance within the context of genome diagnostics (a german perspective).
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 2, p. 91, doi. 10.1515/medgen-2023-2028
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- Publication type:
- Article
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
- Published in:
- 2019
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- Publication type:
- journal article
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8086, doi. 10.1038/ncomms9086
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- Publication type:
- Article
Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 408, doi. 10.1111/cge.13819
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- Publication type:
- Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1255, doi. 10.1002/mgg3.490
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- Publication type:
- Article
Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1225, doi. 10.1002/mgg3.426
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- Publication type:
- Article
The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism?
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 668, doi. 10.1002/mgg3.324
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- Publication type:
- Article
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00846-2
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- Publication type:
- Article
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
- Published in:
- 2023
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- Publication type:
- Letter
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01020-w
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- Publication type:
- Article
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00856-y
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- Publication type:
- Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
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- Publication type:
- Article
Verhaltens- und fertigkeitenbasierte Frühinterventionen bei Kindern mit Autismus.
- Published in:
- GMS Health Technology Assessment, 2009, v. 5, p. 1
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- Publication type:
- Article
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.
- Published in:
- 2020
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- Publication type:
- journal article
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
- Published in:
- Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1447, doi. 10.1007/s00109-020-01966-z
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- Publication type:
- Article
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
- Published in:
- Journal of Molecular Medicine, 2014, v. 92, n. 7, p. 769, doi. 10.1007/s00109-014-1141-6
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- Publication type:
- Article
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0215-4
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- Publication type:
- Article
Identification of transcription factor binding sites using ATAC-seq.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1642-2
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- Publication type:
- Article
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
- Published in:
- Deutsches Ärzteblatt International, 2022, v. 119, n. 51/52, p. 895
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- Publication type:
- Article