Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing
Shah, K., Ferrara, T.M., Jan, A., Umair, M., Irfanullah, Khan, S., Ahmad, W., Spritz, R.A.
Published in British journal of dermatology (1951) (01.08.2017)
Published in British journal of dermatology (1951) (01.08.2017)
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Mutations of PVRL1 , encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Bustos, Tania, Helms, Jill A, Hu, Diane, Richieri-Costa, Antonio, Zlotogora, Joel, Suzuki, Koji, Spritz, Richard A
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
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NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing apoptosis in metastatic melanoma
Zhai, Z, Liu, W, Kaur, M, Luo, Y, Domenico, J, Samson, J M, Shellman, Y G, Norris, D A, Dinarello, C A, Spritz, R A, Fujita, M
Published in Oncogene (06.07.2017)
Published in Oncogene (06.07.2017)
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Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare ‘AT-AC’ Intron
Feng, Guo Hong, Bailin, Tu, Oh, Jangsuk, Spritz, Richard A.
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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Journal Article
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
Nagle, Deborah L, Karim, Mohammad A, Woolf, Elizabeth A, Holmgren, Lisa, Bork, Peer, Misumi, Donald J, McGrail, Sonja H, Dussault, Barry J, Perou, Charles M, Boissy, Raymond E, Duyk, Geoffrey M, Spritz, Richard A, Moore, Karen J
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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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
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)
Morell, R., Spritz, R. A., Ho, L., Pierpont, J., Guo, W., Friedman, T. B., Asher, J. H.
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity
Oh, Jangsuk, Ho, Lingling, Ala-Mello, Sirpa, Amato, Dominick, Armstrong, Linda, Bellucci, Sylvia, Carakushansky, Gerson, Ellis, Julia P., Fong, Chin-To, Green, Jane S., Heon, Elise, Legius, Eric, Levin, Alex V., Nieuwenhuis, H. Karel, Pinckers, A., Tamura, Naoaki, Whiteford, Margo L., Yamasaki, Hisato, Spritz, Richard A.
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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Journal Article
Genetic structure of phenotypic robustness in the collaborative cross mouse diallel panel
Gonzalez, P. N., Pavlicev, M., Mitteroecker, P., Pardo‐Manuel de Villena, F., Spritz, R. A., Marcucio, R. S., Hallgrímsson, B.
Published in Journal of evolutionary biology (01.09.2016)
Published in Journal of evolutionary biology (01.09.2016)
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Mutational mapping of the catalytic activities of human tyrosinase
TRIPATHI, R. K, HEARING, V. J, URABE, K, AROCA, P, SPRITZ, R. A
Published in The Journal of biological chemistry (25.11.1992)
Published in The Journal of biological chemistry (25.11.1992)
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