Instructor, Molecular and Human Genetics, Baylor College of Medicine

Medical Genetics

Tanya N. Eble, MS

Tanya N. Eble, MS is an expert in the field of Medical Genetics. Tanya Eble has written publications. She has 11 publications published with PubMed. The lastest paper is: 'Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked.'

Publications

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.
A mosaic 2q24.2 deletion narrows the critical region to a 0.4?Mb interval that includes TBR1, TANK, and PSMD14.
The practice of adult genetics: A 7-year experience from a single center.
Ophthalmologic findings in Aicardi syndrome.
A genome-wide screen for copy number alterations in Aicardi syndrome.
Non-random X chromosome inactivation in Aicardi syndrome.
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.
Facial and physical features of Aicardi syndrome: infants to teenagers.
Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked.

Doctors Specialties

Genetic Counseling
Medical Genetics

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