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	61.	Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. [electronic resource] by Simon, Marleen Campos-Xavier, Ana Belinda Mittaz-Crettol, Lauréane Valadares, Eugenia Ribeiro Carvalho, Daniel Speck-Martins, Carlos Eduardo Nampoothiri, Sheela Alanay, Yasemin Mihci, Ercan van Bever, Yolande Garcia-Segarra, Nuria Cavalcanti, Denise Mortier, Geert Bonafé, Luisa Superti-Furga, Andrea Producer: 20130212 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. [electronic resource] by Machol, Keren Jain, Mahim Almannai, Mohammed Orand, Thibault Lu, James T Tran, Alyssa Chen, Yuqing Schlesinger, Alan Gibbs, Richard Bonafe, Luisa Campos-Xavier, Ana Belinda Unger, Sheila Superti-Furga, Andrea Lee, Brendan H Campeau, Philippe M Burrage, Lindsay C Producer: 20171019 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. [electronic resource] by Kelley, Brian P Malfait, Fransiska Bonafe, Luisa Baldridge, Dustin Homan, Erica Symoens, Sofie Willaert, Andy Elcioglu, Nursel Van Maldergem, Lionel Verellen-Dumoulin, Christine Gillerot, Yves Napierala, Dobrawa Krakow, Deborah Beighton, Peter Superti-Furga, Andrea De Paepe, Anne Lee, Brendan Producer: 20110525 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. [electronic resource] by Zankl, Andreas Jackson, Gail C Crettol, Laureane Mittaz Taylor, Jacky Elles, Rob Mortier, Geert R Spranger, Jurgen Zabel, Bernhard Unger, Sheila Merrer, Martine Le Cormier-Daire, Valerie Hall, Christine M Wright, Michael J Bonafe, Luisa Superti-Furga, Andrea Briggs, Michael D Producer: 20070316 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. [electronic resource] by Bonafé, Luisa Liang, Jinlong Gorna, Maria W Zhang, Qingyan Ha-Vinh, Russia Campos-Xavier, Ana Belinda Unger, Sheila Beckmann, Jacques S Le Béchec, Antony Stevenson, Brian Giedion, Andres Liu, Xuanzhu Superti-Furga, Giulio Wang, Wei Spahr, André Superti-Furga, Andrea Producer: 20150820 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. [electronic resource] by Dowling, Oonagh Difeo, Analisa Ramirez, Maria C Tukel, Turgut Narla, Goutham Bonafe, Luisa Kayserili, Hulya Yuksel-Apak, Memnune Paller, Amy S Norton, Karen Teebi, Ahmad S Grum-Tokars, Valerie Martin, Gail S Davis, George E Glucksman, Marc J Martignetti, John A Producer: 20031121 In: American journal of human genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. [electronic resource] by Campos-Xavier, Ana Belinda Martinet, Danielle Bateman, John Belluoccio, Dan Rowley, Lynn Tan, Tiong Yang Baxová, Alica Gustavson, Karl-Henrik Borochowitz, Zvi U Innes, A Micheil Unger, Sheila Beckmann, Jacques S Mittaz, Lauréane Ballhausen, Diana Superti-Furga, Andrea Savarirayan, Ravi Bonafé, Luisa Producer: 20090702 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. [electronic resource] by Vissers, Lisenka E L M Lausch, Ekkehart Unger, Sheila Campos-Xavier, Ana Belinda Gilissen, Christian Rossi, Antonio Del Rosario, Marisol Venselaar, Hanka Knoll, Ute Nampoothiri, Sheela Nair, Mohandas Spranger, Jürgen Brunner, Han G Bonafé, Luisa Veltman, Joris A Zabel, Bernhard Superti-Furga, Andrea Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. [electronic resource] by Segarra, Nuria Garcia Ballhausen, Diana Crawford, Heather Perreau, Matthieu Campos-Xavier, Belinda van Spaendonck-Zwarts, Karin Vermeer, Cees Russo, Michel Zambelli, Pierre-Yves Stevenson, Brian Royer-Bertrand, Beryl Rivolta, Carlo Candotti, Fabio Unger, Sheila Munier, Francis L Superti-Furga, Andrea Bonafé, Luisa Producer: 20161017 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	70.	Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. [electronic resource] by Dikoglu, Esra Alfaiz, Ali Gorna, Maria Bertola, Deborah Chae, Jong Hee Cho, Tae-Joon Derbent, Murat Alanay, Yasemin Guran, Tulay Kim, Ok-Hwa Llerenar, Juan C Yamamoto, Guillerme Superti-Furga, Giulio Reymond, Alexandre Xenarios, Ioannis Stevenson, Brian Campos-Xavier, Belinda Bonafé, Luisa Superti-Furga, Andrea Unger, Sheila Producer: 20160317 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	71.	Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). [electronic resource] by Vissers, Lisenka E L M Fano, Virginia Martinelli, Diego Campos-Xavier, Belinda Barbuti, Domenico Cho, Tae-Joon Dursun, Ahmet Kim, Ok Hwa Lee, Sun Hee Timpani, Giuseppina Nishimura, Gen Unger, Sheila Sass, Jörn Oliver Veltman, Joris A Brunner, Han G Bonafé, Luisa Dionisi-Vici, Carlo Superti-Furga, Andrea Producer: 20120209 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. [electronic resource] by 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 Rosa, Rafael Fabiano Machado Unger, Sharon L Renella, Raffaele Bonafé, Luisa Spranger, Jürgen Unger, Sheila Zabel, Bernhard Superti-Furga, Andrea Producer: 20110331 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. [electronic resource] by Jackson, Gail C Mittaz-Crettol, Laureane Taylor, Jacqueline A Mortier, Geert R Spranger, Juergen Zabel, Bernhard Le Merrer, Martine Cormier-Daire, Valerie Hall, Christine M Offiah, Amaka Wright, Michael J Savarirayan, Ravi Nishimura, Gen Ramsden, Simon C Elles, Rob Bonafe, Luisa Superti-Furga, Andrea Unger, Sheila Zankl, Andreas Briggs, Michael D Producer: 20120423 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. [electronic resource] by Smits, Patrick Bolton, Andrew D Funari, Vincent Hong, Minh Boyden, Eric D Lu, Lei Manning, Danielle K Dwyer, Noelle D Moran, Jennifer L Prysak, Mary Merriman, Barry Nelson, Stanley F Bonafé, Luisa Superti-Furga, Andrea Ikegawa, Shiro Krakow, Deborah Cohn, Daniel H Kirchhausen, Tom Warman, Matthew L Beier, David R Producer: 20100128 In: The New England journal of medicine vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. [electronic resource] by Kiper, Pelin O Simsek Saito, Hiroaki Gori, Francesca Unger, Sheila Hesse, Eric Yamana, Kei Kiviranta, Riku Solban, Nicolas Liu, Jeff Brommage, Robert Boduroglu, Koray Bonafé, Luisa Campos-Xavier, Belinda Dikoglu, Esra Eastell, Richard Gossiel, Fatma Harshman, Keith Nishimura, Gen Girisha, Katta M Stevenson, Brian J Takita, Hiroyuki Rivolta, Carlo Superti-Furga, Andrea Baron, Roland Producer: 20160707 In: The New England journal of medicine vol. 374 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	76.	FAM111A mutations result in hypoparathyroidism and impaired skeletal development. [electronic resource] by Unger, Sheila Górna, Maria W Le Béchec, Antony Do Vale-Pereira, Sonia Bedeschi, Maria Francesca Geiberger, Stefan Grigelioniene, Giedre Horemuzova, Eva Lalatta, Faustina Lausch, Ekkehart Magnani, Cinzia Nampoothiri, Sheela Nishimura, Gen Petrella, Duccio Rojas-Ringeling, Francisca Utsunomiya, Akari Zabel, Bernhard Pradervand, Sylvain Harshman, Keith Campos-Xavier, Belinda Bonafé, Luisa Superti-Furga, Giulio Stevenson, Brian Superti-Furga, Andrea Producer: 20140109 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	77.	The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. [electronic resource] by Fukada, Toshiyuki Civic, Natacha Furuichi, Tatsuya Shimoda, Shinji Mishima, Kenji Higashiyama, Hiroyuki Idaira, Yayoi Asada, Yoshinobu Kitamura, Hiroshi Yamasaki, Satoru Hojyo, Shintaro Nakayama, Manabu Ohara, Osamu Koseki, Haruhiko Dos Santos, Heloisa G Bonafe, Luisa Ha-Vinh, Russia Zankl, Andreas Unger, Sheila Kraenzlin, Marius E Beckmann, Jacques S Saito, Ichiro Rivolta, Carlo Ikegawa, Shiro Superti-Furga, Andrea Hirano, Toshio Producer: 20090210 In: PloS one vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	78.	Type I hyperprolinemia: genotype/phenotype correlations. [electronic resource] by Guilmatre, Audrey Legallic, Solenn Steel, Gary Willis, Alecia Di Rosa, Gabriella Goldenberg, Alice Drouin-Garraud, Valérie Guet, Agnès Mignot, Cyril Des Portes, Vincent Valayannopoulos, Vassili Van Maldergem, Lionel Hoffman, Jodi D Izzi, Claudia Espil-Taris, Caroline Orcesi, Simona Bonafé, Luisa Le Galloudec, Eric Maurey, Hélène Ioos, Christine Afenjar, Alexandra Blanchet, Patricia Echenne, Bernard Roubertie, Agathe Frebourg, Thierry Valle, David Campion, Dominique Producer: 20101020 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	79.	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. [electronic resource] by Krakow, Deborah Robertson, Stephen P King, Lily M Morgan, Timothy Sebald, Eiman T Bertolotto, Cristina Wachsmann-Hogiu, Sebastian Acuna, Dora Shapiro, Sandor S Takafuta, Toshiro Aftimos, Salim Kim, Chong Ae Firth, Helen Steiner, Carlos E Cormier-Daire, Valerie Superti-Furga, Andrea Bonafe, Luisa Graham, John M Grix, Arthur Bacino, Carlos A Allanson, Judith Bialer, Martin G Lachman, Ralph S Rimoin, David L Cohn, Daniel H Producer: 20040816 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	80.	Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. [electronic resource] by 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 Producer: 20101116 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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