Resultats de la cerca - Gen Nishimura

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  1. 1
    SHOX haploinsufficiency and overdosage: impact of gonadal function status

    SHOX haploinsufficiency and overdosage: impact of gonadal function status per Tsutomu Ogata, Naoki Matsuo, Gen Nishimura

    Publicat 2001
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  2. 2
    Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis

    Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Ho... per Maki Fukami, Tomonobu Hasegawa, Reiko Horikawa, Toya Ohashi, Gen Nishimura, Keiko Homma, Tsutomu Ogata

    Publicat 2006
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  3. 3
    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function per Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    Publicat 2018
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  4. 4
    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia per Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valérie Cormier‐Daire, Sarah M. Nikkel, Gen Nishimura, Sheila Unger, Jürgen W. Spranger, Andrea Superti‐Furga, Bernhard Zabel

    Publicat 2009
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  5. 5
    Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

    Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome per Tomoki Kosho, Koji Muroya, Toshiro Nagai, Masatoshi Fujimoto, Susumu Yokoya, Hiromi Sakamoto, Takeki Hirano, Hiroshi Terasaki, Hirofumi Ohashi, Gen Nishimura, Seiji Sato, Nobutake Matsuo, Tsutomu Ogata

    Publicat 1999
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  6. 6
    Unique skeletal manifestations in patients with Primrose syndrome

    Unique skeletal manifestations in patients with Primrose syndrome per Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Hove, Daniel R. Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos R. Ferreira, Ratna Dua Puri, Ishwar C. Verma

    Publicat 2020
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  7. 7
    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases per Tatsuya Furuichi, Hülya Kayserili, Shûichi Hiraoka, Gen Nishimura, Hirofumi Ohashi, Yasemin Alanay, JUAN LERENA, Ayça Dilruba Aslanger, Haruhiko Koseki, Daniel H. Cohn, Andrea Superti‐Furga, Sheila Unger, Shiro Ikegawa

    Publicat 2009
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  8. 8
    Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <i>PLOD2</i>

    Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <i>PLOD2</i> per Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, Débora Romeo Bertola, Eva Åström, Johan Svensson, Guilherme Lopes Yamamoto, Anna Hammarsjö, Eva Horemuzova, Nikos Papadogiannakis, Erik Iwarsson, Giedre Grigelioniené, Emma Tham

    Publicat 2017
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  9. 9
    A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice

    A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice per Hiroshi Masuya, Keiichiro Nishida, Tatsuya Furuichi, H. Toki, Gen Nishimura, Hidehiko Kawabata, Haruhiko Yokoyama, Aki Yoshida, S. Tominaga, Junji Nagano, Aya Shimizu, Shigeharu Wakana, Yoichi Gondo, T Noda, Toshihiko Shiroishi, Shiro Ikegawa

    Publicat 2007
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  10. 10
    Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

    Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients per Maki Fukami, Reiko Horikawa, Toshiro Nagai, Toshiaki Tanaka, Yasuhiro Naiki, Naoko Sato, Torayuki Okuyama, Hideo Nakai, Shun Soneda, Katsuhiko Tachibana, Nobutake Matsuo, Seiji Sato, Keiko Homma, Gen Nishimura, Tomonobu Hasegawa, Tsutomu Ogata

    Publicat 2005
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  11. 11
    Nosology and classification of genetic skeletal disorders: 2015 revision

    Nosology and classification of genetic skeletal disorders: 2015 revision per Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger

    Publicat 2015
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  12. 12
    Identification of biallelic<i>LRRK1</i>mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

    Identification of biallelic<i>LRRK1</i>mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity per Aritoshi Iida, Weirong Xing, M. Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, D. Rating, Jürgen W. Spranger, H Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa

    Publicat 2016
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  13. 13
    Nosology and classification of genetic skeletal disorders: 2019 revision

    Nosology and classification of genetic skeletal disorders: 2019 revision per Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman

    Publicat 2019
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  14. 14
    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis per Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Pérez Aytés, H. Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, M. Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen W. Spranger, Bernhard Zabel, Andrea Superti‐Furga

    Publicat 2008
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  15. 15
    Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

    Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome per Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto

    Publicat 2017
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  16. 16
    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 per Yoshiro Suzuki, David Chitayat, Hirotake Sawada, Matthew A. Deardorff, Heather M. McLaughlin, Amber Begtrup, Kathryn Millar, Jennifer Harrington, Karen Chong, Maian Roifman, Katheryn Grand, Makoto Tominaga, Fumio Takada, Shirley Shuster, Megumi Obara, H. Mutoh, Reiko Kushima, Gen Nishimura

    Publicat 2018
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  17. 17
    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations per Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga

    Publicat 2010
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  18. 18
    Nosology and classification of genetic skeletal disorders: 2010 revision

    Nosology and classification of genetic skeletal disorders: 2010 revision per Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga

    Publicat 2011
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  19. 19
    Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

    Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients per Maki Fukami, Gen Nishimura, Keiko Homma, Toshiro Nagai, Keiichi Hanaki, Ayumi Uematsu, Tomohiro Ishii, Chikahiko Numakura, Hirotake Sawada, Mariko Nakacho, Takanori Kowase, Katsuaki Motomura, Hidenori Haruna, Mihoko Nakamura, Akira Ohishi, Masanori Adachi, Toshihiro Tajima, Yukihiro Hasegawa, Tomonobu Hasegawa, Reiko Horikawa, Kenji Fujieda, Tsutomu Ogata

    Publicat 2009
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  20. 20
    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders per Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto

    Publicat 2018
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