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Search Results to Yuri Zarate

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One or more keywords matched the following items that are connected to Zarate, Yuri

Item TypeName
Academic Article Evaluation of growth in patients with isolated cleft lip and/or cleft palate.
Academic Article Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.
Academic Article Fabry's disease.
Academic Article Intestinal malrotation in a patient with Pfeiffer syndrome type 2.
Academic Article Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype.
Academic Article A case of minimal change disease in a Fabry patient.
Academic Article Genetic causes of macroglossia: diagnostic approach.
Academic Article Phenotypic and microscopic description of a new case of Ermine phenotype.
Academic Article 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.
Academic Article A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
Academic Article Lethal presentation of neurofibromatosis and Noonan syndrome.
Academic Article Clinical utility of the X-chromosome array.
Academic Article Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Academic Article Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 9
Concept Humans
Concept Chromosomes, Human, X
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
Academic Article Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Academic Article Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
Academic Article Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study.
Academic Article Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Academic Article Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
Academic Article STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
Academic Article Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Academic Article Aortic dilation in pediatric patients.
Academic Article Aortic dilation, genetic testing, and associated diagnoses.
Academic Article Lessons from a pair of siblings with BPAN.
Academic Article COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
Academic Article SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Academic Article First clinical report of an infant with microcephaly and CASC5 mutations.
Academic Article Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Academic Article An infant with ash-leaf and caf? au lait spots: a case of double phakomatosis.
Academic Article Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
Academic Article SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Academic Article The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Academic Article De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Academic Article Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
Academic Article Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Academic Article Arterial tortuosity syndrome: 40 new families and literature review.
Academic Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Academic Article Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
Academic Article Dental radiographic findings in 18 individuals with SATB2-associated syndrome.
Academic Article SATB2-associated syndrome (SAS) and associated dental findings.
Academic Article Widening phenotypic spectrum of GABBR2 mutation.
Academic Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Academic Article Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Academic Article Mutation update for the SATB2 gene.
Academic Article Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Academic Article Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands.
Academic Article HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Academic Article Behavioral phenotype and sleep problems in SATB2-associated syndrome.
Academic Article Redefining the Etiologic Landscape of Cerebellar Malformations.
Academic Article Speech, language, and feeding phenotypes of SATB2-associated syndrome.
Academic Article Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution.
Academic Article Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.
Academic Article Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Academic Article Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Academic Article Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls.
Academic Article Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Academic Article JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Academic Article NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Academic Article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Academic Article Introduction to the special issue on Clinical Genetics in Latin America.
Academic Article Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Academic Article A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Academic Article CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Academic Article Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Academic Article Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Academic Article SATB2-associated syndrome in adolescents and adults.
Academic Article Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Craniosynostosis is a feature of Costello syndrome.
Academic Article A clinical scoring system for early onset (neonatal) Marfan syndrome.
Academic Article Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome.
Academic Article The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Academic Article Growth in individuals with SATB2-associated syndrome.
Academic Article Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Academic Article Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Academic Article Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Academic Article Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.

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