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SUTTON, VERNON

One or more keywords matched the following items that are connected to SUTTON, VERNON

Item Type	Name
Academic Article	Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
Academic Article	Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Academic Article	Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Academic Article	Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
Academic Article	Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia.
Academic Article	Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Academic Article	Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Academic Article	Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.
Academic Article	CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Academic Article	Non-random X chromosome inactivation in Aicardi syndrome.
Academic Article	Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
Academic Article	Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
Academic Article	Facial and physical features of Aicardi syndrome: infants to teenagers.
Academic Article	Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
Academic Article	Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article	Assessing sex assignment concordance with genotype and phenotype.
Concept	Phenotype
Academic Article	De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Academic Article	Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Academic Article	Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Academic Article	TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article	Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Academic Article	The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Academic Article	Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Academic Article	Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Academic Article	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Academic Article	PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.
Academic Article	Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
Academic Article	GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article	SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
Academic Article	MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Academic Article	Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Academic Article	Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Academic Article	Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Academic Article	Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
Grant	Clinical Phenotype of Imprinted Genes of Chromosome 14
Grant	Discovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias.
Academic Article	Mobility in osteogenesis imperfecta: a multicenter North American study.
Academic Article	Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Academic Article	Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article	Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Academic Article	Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Academic Article	Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Academic Article	VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Academic Article	Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Academic Article	Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Academic Article	Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Academic Article	Extremity anomalies associated with Robinow syndrome.
Academic Article	Craniofacial phenotypes associated with Robinow syndrome.
Academic Article	Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Academic Article	Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Academic Article	Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.
Academic Article	A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
Academic Article	Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.

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Phenotype