Clinical Professor of Clinical Genetics, University Wash
Dermatology
Dr. Virginia P. Sybert, MD
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Doctor Virginia P. Sybert, MD works in the field of Dermatology. She researched medicine at University at Buffalo, School of Medicine and Biomedical Sciences. She has 4 awards "Regional Top Doctor", "Fellow (FAAD)", "Super Doctor" and "Top MD". Virginia P. Sybert, MD is a published doctor and has 97 publications published. The lastest was: 'Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.'
Publications
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
- Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications.
- Folliculocystic and collagen hamartoma of tuberous sclerosis complex.
- Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
- Genetic counseling in epidermolysis bullosa.
- International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
- Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
- Hereditary woolly hair and keratosis pilaris.
- Mosaicism in genetic skin disorders.
- Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.
- Mosaicism in cutaneous pigmentation.
- Growth characteristics of children with ectodermal dysplasia syndromes.
- Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
- Understanding aneuploidy.
- Phenotype and X inactivation in 45,X/46,X,r(X) cases.
- Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
- Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.
- Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
- Growth failure in early life: an important manifestation of Turner syndrome.
- Metastatic malignant melanoma presenting as pancytopenia in a three-year-old boy.
- The genetic basis of Cowden''s syndrome: three novel mutations in PTEN/MMAC1/TEP1.
- Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.
- Small deletions of the short arm of the Y chromosome in 46,XY females.
- Six children with malignant melanoma.
- Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes.
- Two human X-autosome translocations identified by autoradiography and fluorescence.
- Pseudotumour cerebri and the Turner syndrome.
- Aplasia cutis congenita: a report of 12 new families and review of the literature.
- Rapp-Hodgkin ectodermal dysplasia.
- Hereditary hypotrichosis and localized morphea: a new clinical entity.
- Measurement of body fat in Turner syndrome.
- Psychosocial adjustment of adult women with Turner syndrome.
- Congenital nevi: the controversy rages on.
- Association of annular pancreas and duodenal obstruction--evidence for Mendelian inheritance?
- Prenatal diagnosis of severe dermatologic diseases.
- Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar gran...
- Generalized epidermolysis bullosa with congenital synechiae-associated malformations and unusual ultrastructure: a new entity?
- Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
- Lymphocyte capping in carriers of Duchenne muscular dystrophy.
- Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.
- Pheochromocytomas in von Hippel-Lindau disease.
- Lymphocyte capping and carrier detection in Duchenne muscular dystrophy.
- Inheritance of tuberous sclerosis.
- Renal involvement in hereditary multiple osteolysis.
- Genetic principles applied to skin disease.
- Mosaicism for ring 19: a case report.
- Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families.
- Early diagnosis in the ectodermal dysplasias.
- Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.
- Cutaneous and extracutaneous neutrophilic infiltrates (Sweet syndrome) in three patients with Fanconi anemia.
- Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Si...
- Congenital monocytic leukemia: report of a case with cutaneous involvement, and review of the literature.
- Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules.
- Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study.
- Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal.
- Prenatal diagnosis and screening.
- Hypomelanosis of Ito.
- Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
- Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa.
- Guide to information for families with inherited skin disorders.
- Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara?
- Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
- Prevalence of hypopigmented macules in a healthy population.
- Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.
- Cimetidine therapy for multiple viral warts in children.
- Severe skin erosions and scalp infections in AEC syndrome.
- Principles of genetics in the molecular era. A primer for dermatologists.
- Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)
- Updated guide to information for families with inherited skin disorders.
- Incontinentia pigmenti nomenclature.
- Hypomelanosis of Ito: a description, not a diagnosis.
- Re: True agonadism: report of a case analyzed with Y-specific DNA probes.
- A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.
- Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.
- Psychosocial and sexual functioning in women with Turner syndrome.
- A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
- Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
- Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein.
- Congenital abnormalities of the skin: future directions.
- Unsuspected trisomy 18: a case for an examination protocol in stillborn infants.
- Holt-Oram syndrome: penetrance of the gene and lack of maternal effect.
- Lymphocyte capping in limb-girdle muscular dystrophy.
- Adult height in Turner syndrome with and without androgen therapy.
- Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies.
- Controversy in genetic disorders.
- Evaluation of a protocol for post-mortem examination of stillbirths.
- Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant.
- Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome.
- Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
- The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
- Molecular genetics in pediatric dermatology.
- NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
- Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature.
- Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
- Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.
Schools
State University of New York At Buffalo
Uc San Fransisco Moffit
University Wash Chmc
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Dermatology
Accepted Insurances
Awards
- Regional Top Doctor
- Fellow (FAAD)
- Super Doctor
- Top MD
Education
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University of Washington -
UCSF -
University at Buffalo, School of Medicine and Biomedical Sciences
Hospital
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Overlake Medical Center -
Seattle Children's Hospital -
University of Washington Medical Center -
Virginia Mason Medical Center
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