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Stuart A. Holmes

University of Wisconsin-Madison

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Featured researches published by Stuart A. Holmes.

Human Genetics | 1993

Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage

Richard A. Spritz; Stuart A. Holmes

We describe a common single-base polymorphism of the KIT gene that alters both SmaI and BstNI restriction sites, but is most easily detected as a single-strand conformation polymorphism (SSCP) using the polymerase chain reaction (PCR).

American Journal of Human Genetics | 1992

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Richard A. Spritz; Lutz B. Giebel; Stuart A. Holmes

American Journal of Human Genetics | 1995

Novel Mutations and Deletions of the KIT (Steel Factor Receptor) Gene in Human Piebaldism

Kazuhiko Ezoe; Stuart A. Holmes; Lingling Ho; Christopher Bennett; Jean L. Bolognia; Louise Brueton; John Burn; Rafael Falabella; Emilia M. Gatto; Norihisa Ishii; Celia Moss; Mark R. Pittelkow; E. A. Thompson; K. Anne Ward; Richard A. Spritz

American Journal of Human Genetics | 1992

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

R. A. Spritz; Stuart A. Holmes; Raj Ramesar; Jacquie Greenberg; D. Curtis; Peter Beighton

Nature Genetics | 1995

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Kazuyoshi Fukai; Stuart A. Holmes; Neil J. Lucchese; Victoria Mok Siu; Richard G. Weleber; Rhonda E. Schnur; Richard A. Spritz

Human Mutation | 1997

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Richard A. Spritz; Jangsuk Oh; Kazuyoshi Fukai; Stuart A. Holmes; Lingling Ho; David Chitayat; Maria A. Musarella; Seth J. Orlow; Rhonda E. Schnur; Richard G. Weleber; Alex V. Levin

American Journal of Human Genetics | 1995

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

Richard A. Spritz; Fukai K; Stuart A. Holmes; Luande J

Journal of Investigative Dermatology | 1993

Novel Mutations of the KIT (Mast/Stem Cell Growth Factor Receptor) Proto-Oncogene in Human Piebaldism

Richard A. Spritz; Stuart A. Holmes; Peter Itin; Wolfgang Küster

Journal of Investigative Dermatology | 1996

Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene

Rhonda E. Schnur; B. Sellinger; Stuart A. Holmes; Penelope A. Wick; Yvonne Tatsumura; Richard A. Spritz

Prenatal Diagnosis | 1995

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

Tzipora C. Falik‐Borenstein; Stuart A. Holmes; Zvi Borochowitz; Abi Levin; Ada Rosenmann; Richard A. Spritz

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Richard A. Spritz

University of Colorado Denver

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Rhonda E. Schnur

University of Wisconsin-Madison

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Kazuyoshi Fukai

University of Wisconsin-Madison

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Lingling Ho

University of Wisconsin-Madison

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Lutz B. Giebel

University of Wisconsin-Madison

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Penelope A. Wick

Children's Hospital of Philadelphia

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Richard G. Weleber

Oregon Health

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Ada Rosenmann

Hadassah Medical Center

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Tzipora C. Falik‐Borenstein

Technion – Israel Institute of Technology

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Zvi Borochowitz

Technion – Israel Institute of Technology

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