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Dive into the research topics where Stephanie Tzall is active.

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Featured researches published by Stephanie Tzall.


Genomics | 1990

A genetic linkage map of chromosome 17

Jonathan L. Haines; Laurie J. Ozelius; Heather McFarlane; Anil G. Menon; Stephanie Tzall; Rochelle Hirschhorn; James F. Gusella

We have developed a genetic linkage map of 19 markers (including nine genes) on human chromosome 17, providing 13 reference points along virtually the entire length of this chromosome. The map covers an estimated 149 cM in length (sex-averaged), with a total length of 214 cM in females and 95 cM in males. This sex difference appears to be significant along virtually the entire length of the map. This map will be useful both for providing reference points for fine structure genetic and physical mapping and for genetic linkage studies of diseases, including von Recklinghausen neurofibromatosis and Charcot-Marie-Tooth disease.


DNA and Cell Biology | 1990

Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid Sequences

Mark F. Mehler; Stephanie Tzall; Gary Meredith; Rochelle Hirschhorn


DNA and Cell Biology | 1991

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

M. Bodkin; Stephanie Tzall; Rochelle Hirschhorn


Proceedings of the National Academy of Sciences of the United States of America | 1990

Hot spot mutations in adenosine deaminase deficiency.

Rochelle Hirschhorn; Stephanie Tzall; Amy Ellenbogen


American Journal of Human Genetics | 1990

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

Mark F. Mehler; Stephanie Tzall; Gary Meredith; Rochelle Hirschhorn


American Journal of Human Genetics | 1990

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.

M Bodkin; Stephanie Tzall; Rochelle Hirschhorn


DNA and Cell Biology | 1991

Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele

Mark F. Mehler; M. Bodkin; Stephanie Tzall; K. Hirschhorn; N. Zhong; Rochelle Hirschhorn


American Journal of Medical Genetics | 1992

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)

Rochelle Hirschhorn; Amy Ellenbogen; Stephanie Tzall


American Journal of Human Genetics | 1989

Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.

Stephanie Tzall; Ellenbogen A; Eng F; Rochelle Hirschhorn


DNA and Cell Biology | 1992

Recombinant Human Acid α-Glucosidase Generated in Bacteria: Antigenic, but Enzymatically Inactive

Stephanie Tzall; Agnes Chen

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Mark F. Mehler

Albert Einstein College of Medicine

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Anil G. Menon

University of Cincinnati Academic Health Center

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