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1

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, Thomas D. France, Maria A. Musarella, Seth J. Orlow, Rhonda E. Schnur, Richard G. Weleber, Alex V. Levin

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

2

A study in scarlet

Spritz, Richard A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 250 KB

1995

3

NALP1 in Vitiligo-Associated Multiple Autoimmune Disease

Jin, Ying, Mailloux, Christina M., Gowan, Katherine, Riccardi, Sheri L., LaBerge, Greggory, Bennett, Dorothy C., Fain, Pamela R., Spritz, Richard A.

Journal:

Boston Medical and Surgical Journal

Year:

2007

Language:

english

File:

PDF, 255 KB

english, 2007

4

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Lee, Seung-Taek, Nicholls, Robert D., Bundey, Sarah, Laxova, Renata, Musarella, Maria, Spritz, Richard A.

Journal:

Boston Medical and Surgical Journal

Year:

1994

Language:

english

File:

PDF, 1.70 MB

english, 1994

5

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

Aswegan, Andrew L., Josephson, Kevin D., Mowbray, Rodney, Pauli, Richard M., Spritz, Richard A., Williams, Marc S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 453 KB

english, 1997

6

Duplication of 15q11.2–q14, including the P gene, in a woman with generalized skin hyperpigmentation

Keiko Akahoshi, Kazuyoshi Fukai, Atsushi Kato, Satoshi Kimiya, Takeo Kubota, Richard A. Spritz

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 218 KB

english, 2001

7

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

Ram K. Tripathi, Kathleen M. Strunk, Lutz B. Giebel, Richard G. Weleber, Richard A. Spritz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 811 KB

english, 1992

8

Epidemiology of Vitiligo and Associated Autoimmune Diseases in Caucasian Probands and Their Families

Asem Alkhateeb, Pamela R. Fain, Anthony Thody, Dorothy C. Bennett, Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

2003

Language:

english

File:

PDF, 156 KB

english, 2003

9

Complementation of Hypopigmentation in p-Mutant (Pink-Eyed Dilution) Mouse Melanocytes by Normal Human P cDNA, and Defective Complementation by OCA2 Mutant Sequences.

Sviderskaya, Elena V., Bennett, Dorothy C., Ho, Lingling, Bailin, Tu, Lee, Seung-Tack, Spritz, Richard A.

Journal:

The Journal of Investigative Dermatology

Year:

1997

File:

PDF, 2.06 MB

1997

10

Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo

Greggory Laberge, Christina M. Mailloux, Katherine Gowan, Paulene Holland, Dorothy C. Bennett, Pamela R. Fain, Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

11

Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE

Ying Jin, Dorothy C. Bennett, Anita Amadi-Myers, Paulene Holland, Sheri L. Riccardi, Katherine Gowan, Pamela R. Fain, Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

2007

Language:

english

File:

PDF, 430 KB

english, 2007

12

Detection of Mutations in the Tyrosinase Gene in a Patient with Type IA Oculocutaneous Albinism

Spritz, Richard A., Strunk, Kathleen M., Giebel, Lutz B., King, Richard A.

Journal:

Boston Medical and Surgical Journal

Year:

1990

Language:

english

File:

PDF, 3.93 MB

english, 1990

13

Six Decades of Vitiligo Genetics: Genome-Wide Studies Provide Insights into Autoimmune Pathogenesis

Spritz, Richard A

Journal:

The Journal of Investigative Dermatology

Year:

2012

Language:

english

File:

PDF, 113 KB

english, 2012

14

Genetics of Vitiligo

Spritz, Richard A., Andersen, Genevieve H.L.

Journal:

Dermatologic Clinics

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

15

A Comprehensive Genetic Study of Autosomal Recessive Ocular Albinism in Caucasian Patients

Hutton, Saunie M., Spritz, Richard A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

16

Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles

Roberts, Genevieve H.L., Paul, Subrata, Yorgov, Daniel, Santorico, Stephanie A., Spritz, Richard A.

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 647 KB

english, 2019

17

The Genetic Architecture of Vitiligo

Roberts, Genevieve H.L., Santorico, Stephanie A., Spritz, Richard A.

Journal:

Pigment Cell & Melanoma Research

Year:

2019

Language:

english

File:

PDF, 34.12 MB

english, 2019

18

Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

Mirhadi, Sara, Spritz, Richard A., Moss, Celia

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 344 KB

2020

19

Hypopigmentation in the Prader-Willi syndrome correlates withP gene deletion but not with haplotype of the hemizygousP allele

Spritz, Richard A., Bailin, T. U., Nicholls, Robert D., Lee, Seung-Taek, Park, Sang-Kyu, Mascari, Maria J., Butler, Merlin G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

20

Piebaldism with deafness: Molecular evidence for an expanded syndrome

Spritz, Richard A., Beighton, Peter

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

21

Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma

David J. Easty, Philip J. Mitchell, Ketan Patel, Vivi Ann Florenes, Richard A. Spritz, Dorothy C. Bennett

Journal:

International Journal of Cancer

Year:

1997

Language:

english

File:

PDF, 172 KB

english, 1997

22

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard G. Weleber

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

23

Deletion of the KIT and PDGFRA genes in a patient with piebaldism

Dr. Richard A. Spritz, Sara Droetto, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 417 KB

english, 1992

24

Deletion of the SLUG (SNAI2) gene results in human piebaldism

Manuel Sánchez-Martín, Jesús Pérez-Losada, Arancha Rodríguez-García, Belén González-Sánchez, Bruce R. Korf, W. Kuster, Celia Moss, Richard A. Spritz, I. Sánchez-García

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 316 KB

english, 2003

25

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Keiko Akahoshi, Richard A. Spritz, Kazuyoshi Fukai, Norimasa Mitsui, Kazushige Matsushima, Hirofumi Ohashi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

26

Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort

R. Christopher Weatherley-White, Songtao Ben, Ying Jin, Sheri Riccardi, Thomas D. Arnold, Richard A. Spritz

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 88 KB

english, 2011

27

Multi-organellar disorders of pigmentation: tied up in traffic

Richard A Spritz

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 250 KB

english, 1999

28

Multi-organellar disorders of pigmentation: tied up in traffic : Section Editor: Roderick R McInnes e-mail: mcinnes@sickkids.on.ca

Richard A Spritz

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 9.17 MB

english, 1999

29

Hermansky–Pudlak Syndrome and Pale Ear: Melanosome-Making for the Millennium

Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

2000

Language:

english

File:

PDF, 5.93 MB

english, 2000

30

Piebaldism and Neurofibromatosis Type 1: Horses of Very Different Colors

Spritz, Richard A., Itin, Peter H., Gutmann, David H.

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 276 KB

english, 2004

31

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

Tzipora C. Falik-Borenstein, Stuart A. Holmes, Zvi Borochowitz, Abi Levin, A. Rosenmann, Richard A. Spritz

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 790 KB

english, 1995

32

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

Richard A. Spritz, Stuart A. Holmes

Journal:

Year:

1993

Language:

english

File:

PDF, 289 KB

english, 1993

33

Characterization and evolutionary comparison of ratHpscDNA and exclusion of red-eyed dilution (r) locus

Jangsuk Oh, Timothy D. LeCras, Richard A. Spritz

Journal:

Mammalian Genome

Year:

2001

Language:

english

File:

PDF, 830 KB

english, 2001

34

Organization and Nucleotide Sequence of the Human Hermansky-Pudlak Syndrome (HPS) Gene

Bailin, Tu, Oh, Jangsuk, Feng, Guo Hong, Fukai, Kazuyoshi, Spritz, Richard A

Journal:

The Journal of Investigative Dermatology

Year:

1997

File:

PDF, 1.68 MB

1997

35

Mutational Analysis of Copper Binding by Human Tyrosinase.

Spritz, Richard A, Ho, Lingling, Furumura, Minao, Hearing, Jr., Vincent J

Journal:

The Journal of Investigative Dermatology

Year:

1997

File:

PDF, 2.37 MB

1997

36

Genomic Organization and Sequence of D12S53E (Pmel 17), the Human Homologue of the Mouse Silver (si) Locus.

Bailin, Tu, Lee, Seung-Tack, Spritz, Richard A.

Journal:

The Journal of Investigative Dermatology

Year:

1996

File:

PDF, 1.28 MB

1996

37

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

Schnur, Rhonda E., Sellinger, Beatrice T., Holmes, Stuart A., Wick, Penelope A., Tatsumura, Yvonne O., Spritz, Richard A.

Journal:

The Journal of Investigative Dermatology

Year:

1996

File:

PDF, 1.27 MB

1996

38

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

Spritz, Richard A., Holmes, Stuart A., Itin, Peter, Kuster, Wolfgang

Journal:

The Journal of Investigative Dermatology

Year:

1993

File:

PDF, 1.55 MB

1993

39

Candidate Functional Promoter Variant in the FOXD3 Melanoblast Developmental Regulator Gene in Autosomal Dominant Vitiligo

Asem Alkhateeb, Pamela R. Fain, Richard A. Spritz

Journal:

Journal of General Internal Medicine

Year:

2005

Language:

english

File:

PDF, 764 KB

english, 2005

40

High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein

Ito, Shiro, Suzuki, Tamio, Inagaki, Katsuhiko, Suzuki, Noriyuki, Takamori, Kenji, Yamada, Tomoko, Nakazawa, Mitsuru, Hatano, Michihiro, Takiwaki, Hirotsugu, Kakuta, Yumi, Spritz, Richard A, Tomita, Ya

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 220 KB

english, 2005

41

The genetics of generalized vitiligo

Richard A. Spritz

Journal:

Experimental Dermatology

Year:

2006

Language:

english

File:

PDF, 464 KB

english, 2006

42

Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff

Raymond E. Boissy, Richard A. Spritz

Journal:

Experimental Dermatology

Year:

2009

Language:

english

File:

PDF, 153 KB

english, 2009

43

The Molecular Basis of Type I (Tyrosinase-Deficient) Human Oculocutaneous Albinism

Lutz B. Giebel, Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

1990

Language:

english

File:

PDF, 610 KB

english, 1990

44

The Molecular Basis of Human Piebaldism

RICHARD A. SPRITZ

Journal:

Pigment Cell & Melanoma Research

Year:

1992

Language:

english

File:

PDF, 548 KB

english, 1992

45

The genetics of generalized vitiligo and associated autoimmune diseases

Richard A. Spritz

Journal:

Pigment Cell & Melanoma Research

Year:

2007

Language:

english

File:

PDF, 494 KB

english, 2007

46

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

Rinchik, Eugene M., Bultman, Scott J., Horsthemke, Bernhard, Lee, Seung-Taek, Strunk, Kathleen M., Spritz, Richard A., Avidano, Karen M., Jong, Michelle T. C., Nicholls, Robert D.

Journal:

Year:

1993

File:

PDF, 600 KB

1993

47

10.1038/78119

Spritz, Richard A., Suzuki, Koji, Hu, Diane, Bustos, Tania, Zlotogora, Joel, Richieri-Costa, Antonio, Helms, Jill A.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 333 KB

english, 2000

48

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

Hutton, Saunie M, Spritz, Richard A

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

49

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

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

Journal:

Nature Genetics

Year:

1995

File:

PDF, 478 KB

1995

50

Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles

Oh, Jangsuk, Bailin, Tu, Fukai, Kazuyoshi, Feng, Guo Hong, Ho, Lingling, Mao, Jen-i, Frenk, Edgar, Tamura, Naoaki, Spritz, Richard A.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 789 KB

1996