Physician
Medical Genetics
Dr. Robert S. Wildin, MD
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Robert Wildin works in the field of Medical Genetics. He went to University of California San Francisco School of Medicine. University of California San Francisco School of Medicine is a one of the best medicals schools. University of California San Francisco School of Medicine has a rank of 3 in research and a 3 in primary care Robert Wildin is also published. He has 21 publications published. The lastest publication: "AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.'
Publications
- Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
- Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.
- A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
- IPEX and FOXP3: clinical and research perspectives.
- Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).
- Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes.
- Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
- Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
- Regulation of Src-family protein tyrosine kinase transcription during lymphocyte ontogeny.
- Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.
- AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
- Correlation of linkage data with phenotype in eight families with Stickler syndrome.
- Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
- Functional dissection of the murine lck distal promoter.
- Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.
- Human thyroxine-binding globulin (TBG): heterogeneity within individuals and among individuals demonstrated by isoelectric focusing.
- Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).
- A retrovirus vector expressing the putative mammary oncogene int-1 causes partial transformation of a mammary epithelial cell line.
- Developmental regulation of lck gene expression in T lymphocytes.
Schools
University of California At San Francisco
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of Washington -
University of California San Francisco School of Medicine
Hospital
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Inova Fairfax Hospital
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