Physician
Medical Genetics
Dr. Ann H. Olney, MD
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Olney practices Medical Genetics. She researched medicine at University of Nebraska Medical Center. University of Nebraska Medical Center is a top medical university. University of Nebraska Medical Center has a rank of 60 in research and a 4 in primary care Doctor Ann H. Olney, MD is also published. She has 47 publications published. The lastest publication: "Turner syndrome.'
Publications
- Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
- Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications.
- Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
- Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions.
- Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
- Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
- 18q22.3 --> 18q23 deletion syndrome and cleft palate.
- Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in multiple family members.
- Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations.
- Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.
- Macrocephaly syndromes.
- Cryptic duplication and deletion of 9q34.3 --> qter in a family with a t(9;22)(q34.3;p11.2).
- Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to delet...
- Congenital microgastria and limb reduction defects.
- Pallister-Hall syndrome.
- Waardenburg syndrome.
- Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome).
- Opitz syndrome (G/BBB Syndrome).
- Report from the workshop on Pallister-Hall syndrome and related phenotypes.
- Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-op...
- Partial duplication of distal 17q.
- The twenty-five most common multiple congenital anomaly syndromes in Nebraska.
- Mapping of the human complement factor I gene to 4q25.
- Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
- GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
- Overgrowth syndromes.
- Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome).
- Turner syndrome.
- Oto-palatal-digital syndromes.
- Robin sequence.
- Oculo-auriculo-vertebral spectrum.
- Van der Woude syndrome.
- Oral-facial-digital syndrome type I.
- Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies.
- Craniofrontonasal dysplasia.
- Kabuki syndrome.
- Stickler syndrome.
- Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies.
- Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins.
- Hypothalamic dysfunction with polydactyly and hypoplastic nails.
- Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism.
- Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
- Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
- Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Schools
Univ Of Ne Coll Of Med
University Nebr Mc
Doctors Specialties
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of Nebraska Medical Center -
University of Nebraska College of Medicine
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