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Congenital Intra-abdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4.
- Published in:
- Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 224, doi. 10.2350/09-04-0638-CR.1
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- Publication type:
- Article
Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!
- Published in:
- 2021
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- Publication type:
- journal article
Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.557341
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- Publication type:
- Article
Value of a genetics clinic evaluation in identifying women at risk for hereditary breast‐ovarian cancer syndrome.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1591, doi. 10.1002/jgc4.1425
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- Publication type:
- Article
Is it in your genes? (Book).
- Published in:
- 2004
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- Publication type:
- Book Review
Adults with lysosomal storage diseases in the undiagnosed diseases network.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2013
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- Publication type:
- Article
Diversity, inclusion and equity in medical genetics: The time is now.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899
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- Publication type:
- Article
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 471, doi. 10.1002/ajmg.a.38053
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- Publication type:
- Article
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3002, doi. 10.1002/ajmg.a.34336
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- Publication type:
- Article
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.
- Published in:
- 2019
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- Publication type:
- journal article
Rare loss of function variants in candidate genes and risk of colorectal cancer.
- Published in:
- Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4
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- Publication type:
- Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00366-9
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- Publication type:
- Article
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Progress in Molecular Genetics of Alzheimer's Disease.
- Published in:
- Neuroscientist, 1996, v. 2, n. 1, p. 3, doi. 10.1177/107385849600200106
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- Publication type:
- Article
Clinical utility gene card for: Werner Syndrome - Update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171
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- Publication type:
- Article
Clinical utility gene card for: Werner syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265
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- Publication type:
- Article
Na<sub>v</sub>1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 48, p. 12566, doi. 10.1523/JNEUROSCI.3424-06.2006
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- Publication type:
- Article
Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
- Published in:
- GeroScience, 2024, v. 46, n. 2, p. 2771, doi. 10.1007/s11357-023-00907-1
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- Publication type:
- Article
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome.
- Published in:
- GeroScience, 2021, v. 43, n. 3, p. 1481, doi. 10.1007/s11357-020-00318-6
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- Publication type:
- Article
Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer.
- Published in:
- 2020
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- Publication type:
- journal article
Dysfunction of the MDM2/p53 axis is linked to premature aging.
- Published in:
- 2017
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- Publication type:
- journal article
Copy number variation plays an important role in clinical epilepsy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178
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- Publication type:
- Article
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 4, p. 542, doi. 10.1002/ana.24119
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- Publication type:
- Article
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1148, doi. 10.1002/mgg3.495
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- Publication type:
- Article
Schizencephaly: Association With Young Maternal Age, Alcohol Use, and Lack of Prenatal Care.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 2, p. 198, doi. 10.1177/0883073812467850
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- Publication type:
- Article
Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 5, p. 618, doi. 10.1177/0883073808327833
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- Publication type:
- Article
<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.
- Published in:
- Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
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- Publication type:
- Article
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 7, doi. 10.1002/humu.23128
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- Publication type:
- Article
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833
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- Publication type:
- Article
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome.
- Published in:
- Gerontology, 2014, v. 60, n. 3, p. 239, doi. 10.1159/000356030
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- Publication type:
- Article
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34
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- Publication type:
- Article
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7
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- Publication type:
- Article