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1
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
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Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Suzuki, O.T. ; Sertié, A.L. ; Der Kaloustian, V.M. ; Kok, F. ; Carpenter, M. ; Murray, J. ; Czeizel, A.E. ; Kliemann, S.E. ; Rosemberg, S. ; Monteiro, M. ; Olsen, B.R. ; Passos-Bueno, M.R.

American journal of human genetics, 2002-12, Vol.71 (6), p.1320-1329 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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2
Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria
Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria
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Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria

Miyamura, Yoshinori ; Suzuki, Tamio ; Kono, Michihiro ; Inagaki, Katsuhiko ; Ito, Shiro ; Suzuki, Noriyuki ; Tomita, Yasushi

American journal of human genetics, 2003-09, Vol.73 (3), p.693-699 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
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Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Guan, Min-Xin ; Yan, Qingfeng ; Li, Xiaoming ; Bykhovskaya, Yelena ; Gallo-Teran, Jaime ; Hajek, Petr ; Umeda, Noriko ; Zhao, Hui ; Garrido, Gema ; Mengesha, Emebet ; Suzuki, Tsutomu ; Castillo, Ignacio del ; Peters, Jennifer Lynne ; Li, Ronghua ; Qian, Yaping ; Wang, Xinjian ; Ballana, Ester ; Shohat, Mordechai ; Lu, Jianxin ; Estivill, Xavier ; Watanabe, Kimitsuna ; Fischel-Ghodsian, Nathan

American journal of human genetics, 2006-08, Vol.79 (2), p.291-302 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
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Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Inagaki, Katsuhiko ; Suzuki, Tamio ; Shimizu, Hiroshi ; Ishii, Norihisa ; Umezawa, Yoshinori ; Tada, Joji ; Kikuchi, Noriaki ; Takata, Minoru ; Takamori, Kenji ; Kishibe, Mari ; Tanaka, Michi ; Miyamura, Yoshinori ; Ito, Shiro ; Tomita, Yasushi

American journal of human genetics, 2004-03, Vol.74 (3), p.466-471 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
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Studies on familial hypotransferrinemia : unique clinical course and molecular pathology

HAYASHI, A ; WADA, Y ; SUZUKI, T ; SHIMIZU, A

American journal of human genetics, 1993-07, Vol.53 (1), p.201-213 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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6
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Howrigan, Daniel P. ; Abbott, Liam E. ; Tashman, Katherine ; Singh, Tarjinder ; Watts, Nick ; Lal, Dennis ; Hakonarson, Hakon ; Weckhuysen, Sarah ; Petrovski, Slavé ; Cossette, Patrick ; Cotsapas, Chris ; De Jonghe, Peter ; Guerrini, Renzo ; Marson, Anthony G. ; Depondt, Chantal ; Striano, Pasquale ; Freyer, Catharine ; Regan, Brigid M. ; Leu, Costin ; Johns, Esther M.C. ; Macdonald, Alexandra ; Bahlo, Melanie ; Todaro, Marian ; Stamberger, Hannah ; Sadoway, Tara R. ; Kousiappa, Ioanna ; Tanteles, George A. ; Štěrbová, Katalin ; Kunz, Wolfram S. ; Zsurka, Gábor ; Elger, Christian E. ; Rademacher, Michael ; van Baalen, Andreas ; von Spiczak, Sarah ; Afawi, Zaid ; Canavati, Christina ; Kluger, Gerhard ; Blatt, Ilan ; Weber, Yvonne G. ; Wolking, Stefan ; Rau, Sarah ; Steinhoff, Bernhard J. ; Schulze-Bonhage, Andreas ; Borggräfe, Ingo ; Madeleyn, Rene ; Kälviäinen, Reetta ; Linnankivi, Tarja ; Chung, Seo-Kyung ; Balestrini, Simona ; Braatz, Vera ; Johnson, Michael R. ; Auce, Pauls ; Sham, Pak C. ; Lui, Colin H.T. ; Doherty, Colin P. ; Shukralla, Arif ; El-Naggar, Hany ; Vari, Maria Stella ; Salpietro, Vincenzo ; Tinuper, Paolo ; Gagliardi, Monica ; Montomoli, Martino ; Doccini, Viola ; Inoue, Yushi ; Yamakawa, Kazuhiro ; Tumiene, Birute ; Sadleir, Lynette G. ; Caglayan, S. Hande ; Arslan, Mutluay ; Yis, Uluc ; Topaloglu, Pınar ; Baykan, Betül ; Salman, Barış ; Haryanyan, Garen ; Özkara, Çiğdem ; Poduri, Annapurna ; Shiedley, Beth R. ; Shain, Catherine ; French, Jacqueline A. ; Kuzniecky, Ruben I. ; Hegde, Manu ; Helbig, Katherine L. ; Piras, Federica ; Reif, Andreas ; McQuillin, Andrew ; Johnstone, Mandy ; Palotie, Aarno ; Carvalho, Celia Barreto ; Achtyes, Eric D. ; Azevedo, Maria Helena ; Kotov, Roman ; Lehrer, Douglas S. ; Marder, Stephen R. ; Medeiros, Helena ; Morley, Christopher P. ; Rapaport, Mark H. ; Knowles, James A. ; McCarroll, Steven A. ; Lowenstein, Daniel H. ; Goldstein, David B.

American journal of human genetics, 2019-08, Vol.105 (2), p.267-282 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
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Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families

SASAKI, H ; WAKISAKA, A ; SUZUKI, T ; TASHIRO, K ; TAKADA, A ; YOSHIKI, T ; IHARA, T ; SUZUKI, Y ; HAMADA, T ; IWABUCHI, K ; ONARI, K ; TADA, J

American journal of human genetics, 1995, Vol.56 (1), p.231-242 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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8
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Strauss, Kevin A. ; Jinks, Robert N. ; Puffenberger, Erik G. ; Venkatesh, Sundararajan ; Singh, Kamalendra ; Cheng, Iteen ; Mikita, Natalie ; Thilagavathi, Jayapalraja ; Lee, Jae ; Sarafianos, Stefan ; Benkert, Abigail ; Koehler, Alanna ; Zhu, Anni ; Trovillion, Victoria ; McGlincy, Madeleine ; Morlet, Thierry ; Deardorff, Matthew ; Innes, A. Micheil ; Prasad, Chitra ; Chudley, Albert E. ; Lee, Irene Nga Wing ; Suzuki, Carolyn K.

American journal of human genetics, 2015-01, Vol.96 (1), p.121-135 [Periódico revisado por pares]

United States: Elsevier Inc

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9
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Suzuki, Yoshiro ; Chitayat, David ; Sawada, Hirotake ; Deardorff, Matthew A. ; McLaughlin, Heather M. ; Begtrup, Amber ; Millar, Kathryn ; Harrington, Jennifer ; Chong, Karen ; Roifman, Maian ; Grand, Katheryn ; Tominaga, Makoto ; Takada, Fumio ; Shuster, Shirley ; Obara, Megumi ; Mutoh, Hiroshi ; Kushima, Reiko ; Nishimura, Gen

American journal of human genetics, 2018-06, Vol.102 (6), p.1104-1114 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
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Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12

Kurreeman, Fina A.S. ; Stahl, Eli A. ; Okada, Yukinori ; Liao, Katherine ; Diogo, Dorothée ; Raychaudhuri, Soumya ; Freudenberg, Jan ; Kochi, Yuta ; Patsopoulos, Nikolaos A. ; Gupta, Namrata ; Sandor, Cynthia ; Bang, So-Young ; Lee, Hye-Soon ; Padyukov, Leonid ; Suzuki, Akari ; Siminovitch, Kathy ; Worthington, Jane ; Gregersen, Peter K. ; Hughes, Laura B. ; Reynolds, Richard J. ; Bridges, S. Louis ; Bae, Sang-Cheol ; Yamamoto, Kazuhiko ; Plenge, Robert M.

American journal of human genetics, 2012-03, Vol.90 (3), p.524-532 [Periódico revisado por pares]

United States: Elsevier Inc

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