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Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1244983
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- Publication type:
- Article
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1231434
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34053-7
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- Publication type:
- Article
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
- Published in:
- 2022
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- Publication type:
- Case Study
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.
- Published in:
- 2021
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- Publication type:
- Case Study
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
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- Publication type:
- Article
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 950, doi. 10.3390/genes12070950
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- Publication type:
- Article
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 900, doi. 10.3390/genes12060900
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- Publication type:
- Article
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2
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- Publication type:
- Article
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1561
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- Publication type:
- Article
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 628, doi. 10.1111/cge.13854
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- Publication type:
- Article
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00490-6
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- Publication type:
- Article
Cover Image.
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- Prenatal Diagnosis, 2020, v. 40, n. 7, p. 1, doi. 10.1002/pd.5776
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- Publication type:
- Article
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
- Published in:
- 2020
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- Publication type:
- case study
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.
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- International Journal of Pediatric Endocrinology, 2020, v. 2020, n. 1, p. 1, doi. 10.1186/s13633-019-0071-z
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- Publication type:
- Article
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01685
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- Publication type:
- Article
The use of new genetic technologies in patient approach: a mini-review of the literature.
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- Clinical Cases in Mineral & Bone Metabolism, 2019, v. 16, n. 2, p. 140
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- Publication type:
- Article
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00258
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- Publication type:
- Article
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.496
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- Publication type:
- Article
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0508-2
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- Publication type:
- Article
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.
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- Genes, Chromosomes & Cancer, 2017, v. 56, n. 12, p. 846, doi. 10.1002/gcc.22488
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- Publication type:
- Article
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8808, doi. 10.3892/mmr.2017.7760
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- Publication type:
- Article
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
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- Journal of Pathology, 2017, v. 243, n. 1, p. 9, doi. 10.1002/path.4926
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- Publication type:
- Article
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
- Published in:
- 2017
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- Publication type:
- journal article
Developmental trends of communicative skills in children with chromosome 14 aberrations.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140
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- Publication type:
- Article
A Data Fusion Approach to Enhance Association Study in Epilepsy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0164940
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- Publication type:
- Article
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 6, p. 691, doi. 10.1177/0883073815613562
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- Publication type:
- Article
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0230-3
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- Publication type:
- Article
Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
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- Publication type:
- Article
A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 155, doi. 10.1159/000435871
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- Publication type:
- Article
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
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- Publication type:
- Article
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 810, doi. 10.1002/ajmg.a.36907
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- Publication type:
- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Publication type:
- Article
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.
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- Familial Cancer, 2015, v. 14, n. 1, p. 41, doi. 10.1007/s10689-014-9750-3
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- Publication type:
- Article
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.
- Published in:
- 2015
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- Publication type:
- Report
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 2, p. 323, doi. 10.1007/s10072-014-1944-9
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- Publication type:
- Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
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- Publication type:
- Article
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3154, doi. 10.1002/ajmg.a.36746
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- Publication type:
- Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
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- Publication type:
- Article
Hyper Ig E syndrome: anaphylaxis in a patient carrying the N567 D STAT3 mutation.
- Published in:
- Pediatric Allergy & Immunology, 2014, v. 25, n. 5, p. 503, doi. 10.1111/pai.12217
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- Publication type:
- Article
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-41
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- Publication type:
- Article
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101244
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- Publication type:
- Article
A newborn with ambiguous genitalia and a complex X;Y rearrangement.
- Published in:
- 2014
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- Publication type:
- Case Study
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.
- Published in:
- Journal of Translational Medicine, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1479-5876-12-95
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- Publication type:
- Article