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The effect of empagliflozin on circulating endothelial progenitor cells in patients with diabetes and stable coronary artery disease.
- Published in:
- Cardiovascular Diabetology, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12933-024-02466-x
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- Publication type:
- Article
Agenesis of the corpus callosum. An autopsy study in fetuses.
- Published in:
- 2016
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- Publication type:
- journal article
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04337-x
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- Publication type:
- Article
Congenital Mirror Movements Associated With Brain Malformations.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 7, p. 545, doi. 10.1177/0883073820984068
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- Publication type:
- Article
Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 9, p. 506, doi. 10.1177/0883073819842970
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- Publication type:
- Article
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 14, p. 1534, doi. 10.1177/0883073816664836
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- Publication type:
- Article
A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.
- Published in:
- 2015
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- Publication type:
- Case Study
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
- Published in:
- 2018
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- Publication type:
- Letter
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
- Published in:
- 2017
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- Publication type:
- journal article
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 7, p. 1071, doi. 10.1111/epi.13020
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- Publication type:
- Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
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- Publication type:
- Article
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 994, doi. 10.1111/epi.12668
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- Publication type:
- Article
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1262, doi. 10.1111/epi.12203
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- Publication type:
- Article
Resolution of epileptic encephalopathy following treatment with transdermal nicotine.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 1, p. e13, doi. 10.1111/j.1528-1167.2012.03715.x
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- Publication type:
- Article
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 4, p. 953, doi. 10.1111/j.1528-1167.2009.02023.x
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- Publication type:
- Article
Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 5, p. 1011, doi. 10.1111/j.1528-1167.2007.01004.x
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- Publication type:
- Article
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1990, doi. 10.1002/ajmg.a.62730
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- Publication type:
- Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795
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- Publication type:
- Article
Brain white matter abnormalities associated with copy number variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 93, doi. 10.1002/ajmg.a.61389
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- Publication type:
- Article
Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1575, doi. 10.1002/ajmg.a.61196
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- Publication type:
- Article
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 78, doi. 10.1002/ajmg.a.6
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- Publication type:
- Article
Central 22q11.2 deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
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- Publication type:
- Article
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1940, doi. 10.1002/ajmg.a.36583
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- Publication type:
- Article
Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1395, doi. 10.1002/ajmg.a.35361
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- Publication type:
- Article
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 269, doi. 10.1002/ajmg.a.34402
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- Publication type:
- Article
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2991, doi. 10.1002/ajmg.a.34316
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- Publication type:
- Article
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca<sup>2+</sup>-Dependent Cyclic GMP Synthesis.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00348
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- Publication type:
- Article
Dasatinib induces endothelial dysfunction leading to impaired recovery from ischaemia.
- Published in:
- British Journal of Haematology, 2024, v. 205, n. 3, p. 1011, doi. 10.1111/bjh.19595
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- Publication type:
- Article
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
- Published in:
- 2014
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- Publication type:
- journal article
Microarray findings in pregnancies with oligohydramnios – a retrospective cohort study and literature review.
- Published in:
- Journal of Perinatal Medicine, 2020, v. 48, n. 1, p. 53, doi. 10.1515/jpm-2019-0228
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- Publication type:
- Article
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 31, doi. 10.1002/pd.516
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- Publication type:
- Article
Congential Cytomegalovirus Infection Presenting as an Apparent Neurodegenerative Disorder.
- Published in:
- Clinical Pediatrics, 2002, v. 41, n. 7, p. 519, doi. 10.1177/000992280204100710
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- Publication type:
- Article
Pathways Mediating the Interaction between Endothelial Progenitor Cells (EPCs) and Platelets.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0095156
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- Publication type:
- Article
Metabolic stroke in a patient with bi-allelic OPA1 mutations.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 4, p. 1043, doi. 10.1007/s11011-019-00415-2
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- Publication type:
- Article
Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Familial Brain Periventricular Pseudocysts.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 30, n. 4, p. 309, doi. 10.1159/000330121
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- Publication type:
- Article
Imaging of Fetal Cytomegalovirus Infection.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 29, n. 2, p. 117, doi. 10.1159/000321346
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- Publication type:
- Article
Imaging of fetal cytomegalovirus infection.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Reticulated Platelets and Their Relationship with Endothelial Progenitor Cells during the Acute Phase of ST-Elevation Myocardial Infarction.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6597, doi. 10.3390/jcm11216597
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- Publication type:
- Article
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 287, doi. 10.1038/ejhg.2010.213
- By:
- Publication type:
- Article
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 226, doi. 10.1038/sj.ejhg.5200791
- By:
- Publication type:
- Article
Circulating endothelial progenitor cell levels and function in patients who experienced late coronary stent thrombosis.
- Published in:
- European Heart Journal, 2010, v. 31, n. 21, p. 2625, doi. 10.1093/eurheartj/ehq184
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- Publication type:
- Article
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 9, doi. 10.1002/jmd2.12157
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- Publication type:
- Article
Elevated galectin-3 in women with gestational diabetes mellitus, a new surrogate for cardiovascular disease in women.
- Published in:
- PLoS ONE, 2020, v. 15, n. 6, p. 1, doi. 10.1371/journal.pone.0234732
- By:
- Publication type:
- Article
Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5
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- Publication type:
- Article
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2155, doi. 10.1007/s11011-021-00742-3
- By:
- Publication type:
- Article