Nosology and classification of genetic skeletal disorders: 2015 revision
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Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
André, Jean-Luc, Lama, Giuliana, Joseph, Mark, Loirat, Chantal, Illies, Friederike, Bogdanovic, Radovan, Milford, David V, Saraiva, Jorge M, Stein, Anja, Takashima, Hiroshi, Tizard, Jane, Rosenbarker, Lisa, Cockfield, Sandra, Petty, Elizabeth M, John, Joy, Burguet, Antoine, Schmidt, Beate, Smith, Graham C, Lupski, James R, Weksberg, Rosanna, Cordeiro, Isabel, Yan, Jiong, Fründ, Stefan, Stankiewicz, Pawel, McLeod, D. Ross, Stockton, David W, Rodrigo, Francisco, Kaitila, Ilkka, Spranger, Jürgen, Thiele, Hannelore, Boerkoel, Cornelius F
Published in Nature genetics (01.02.2002)
Published in Nature genetics (01.02.2002)
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The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention
Ferreira, Carlos R., Regier, Debra S., Yoon, Robin, Pan, Kristen S., Johnston, Jean M., Yang, Sandra, Spranger, Jürgen W., Tifft, Cynthia J.
Published in Bone (New York, N.Y.) (01.02.2020)
Published in Bone (New York, N.Y.) (01.02.2020)
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Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Iida, Aritoshi, Xing, Weirong, Docx, Martine K F, Nakashima, Tomoki, Wang, Zheng, Kimizuka, Mamori, Van Hul, Wim, Rating, Dietz, Spranger, Jürgen, Ohashi, Hirohumi, Miyake, Noriko, Matsumoto, Naomichi, Mohan, Subburaman, Nishimura, Gen, Mortier, Geert, Ikegawa, Shiro
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
Superti-Furga, Andrea, Lausch, Ekkehart, Janecke, Andreas, Bros, Matthias, Trojandt, Stefanie, Alanay, Yasemin, De Laet, Corinne, Hübner, Christian A, Meinecke, Peter, Nishimura, Gen, Matsuo, Mari, Hirano, Yoshiko, Tenoutasse, Sylvie, Kiss, Andrea, Machado Rosa, Rafael Fabiano, Unger, Sharon L, Renella, Raffaele, Bonafé, Luisa, Spranger, Jürgen, Unger, Sheila, Zabel, Bernhard
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
Flöttmann, Ricarda, Wagner, Johannes, Kobus, Karolina, Curry, Cynthia J, Savarirayan, Ravi, Nishimura, Gen, Yasui, Natsuo, Spranger, Jürgen, Van Esch, Hilde, Lyons, Michael J, DuPont, Barbara R, Dwivedi, Alka, Klopocki, Eva, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
Lausch, Ekkehart, Keppler, Romy, Hilbert, Katja, Cormier-Daire, Valerie, Nikkel, Sarah, Nishimura, Gen, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea, Zabel, Bernhard
Published in American journal of human genetics (14.08.2009)
Published in American journal of human genetics (14.08.2009)
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Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis
Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of human genetics (01.06.2008)
Published in American journal of human genetics (01.06.2008)
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TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
Lausch, Ekkehart, Hermanns, Pia, Farin, Henner F., Alanay, Yasemin, Unger, Sheila, Nikkel, Sarah, Steinwender, Christoph, Scherer, Gerd, Spranger, Jürgen, Zabel, Bernhard, Kispert, Andreas, Superti-Furga, Andrea
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Published in Clinical case reports (01.11.2018)
Published in Clinical case reports (01.11.2018)
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Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant
Takagi, Masaki, Hori, Naoaki, Chinen, Yasutsugu, Kurosawa, Kenji, Tanaka, Yukichi, Oku, Kikuko, Sakata, Hitomi, Fukuzawa, Ryuji, Nishimura, Gen, Spranger, Jürgen, Hasegawa, Tomonobu
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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