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genetics & heredity (6) 6
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caps; eurofever; fmf; genotype-phenotype associations; hereditary recurrent fevers; infevers; mkd; traps; genetics; pharmacology (1) 1
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Cell, ISSN 0092-8674, 2001, Volume 107, Issue 4, pp. 513 - 523
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein... 
MINERAL DENSITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | OSTEOBLAST LINEAGE | MOLECULAR-CLONING | MICE | DIFFERENTIATION | BETA-CATENIN | OSTEOPOROSIS | CELL-DEATH | FAMILY | CELL BIOLOGY | Wnt2 Protein | Humans | Child, Preschool | Male | Bone Density - genetics | Wnt Proteins | Mesoderm - cytology | Wnt-5a Protein | Eye - embryology | Osteoporosis - genetics | Animals, Outbred Strains | Dishevelled Proteins | Bone Morphogenetic Proteins - pharmacology | Child | Organ Culture Techniques | Transforming Growth Factor beta | Signal Transduction | Chromosomes, Human, Pair 11 - genetics | Adaptor Proteins, Signal Transducing | Skull - cytology | Wnt3 Protein | Mice | Receptors, LDL - physiology | COS Cells | Species Specificity | LDL-Receptor Related Proteins | DNA, Complementary - genetics | Recombinant Fusion Proteins - physiology | Cercopithecus aethiops | Culture Media, Conditioned - pharmacology | Recombinant Proteins | Transfection | Receptors, LDL - deficiency | Stromal Cells - drug effects | Adult | Female | Phosphoproteins - physiology | Proteins - physiology | Receptors, LDL - genetics | Bone Morphogenetic Protein 2 | Low Density Lipoprotein Receptor-Related Protein-5 | Mice, Inbred C57BL | Zebrafish Proteins | Proto-Oncogene Proteins - genetics | Phosphoproteins - genetics | Eye Abnormalities - genetics | Genes, Recessive | Syndrome | Proteins - genetics | Animals | Proto-Oncogene Proteins - physiology | Heterozygote | Osteoblasts - metabolism | Stromal Cells - cytology | Wnt4 Protein | Proteins | Cell research | Lipoproteins | Growth | Analysis | Physiological aspects | Bones | LDL receptor-related protein 5 | LRP5 protein | low density lipoprotein receptor-related protein 5 | osteoporosis-pseudoglioma syndrome | Index Medicus | Receptors, LDL | Mesoderm | Osteoblasts | Recombinant Fusion Proteins | Eye | Life Sciences | Osteoporosis | Stromal Cells | Eye Abnormalities | Phosphoproteins | Proto-Oncogene Proteins | Bone Density | Biochemistry, Molecular Biology | Culture Media, Conditioned | Skull | Chromosomes, Human, Pair 11 | Bone Morphogenetic Proteins | DNA, Complementary
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 167 - 167
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has... 
Traps | MKD | Hereditary recurrent fevers | Infevers | Genotype-phenotype associations | Caps | FMF | Eurofever | MEDICINE, RESEARCH & EXPERIMENTAL | FAMILIAL MEDITERRANEAN FEVER | GENE | GENETICS & HEREDITY | PERIODIC FEVERS | MUTATIONS | Genetic aspects | Research | Hereditary autoinflammatory diseases | Risk factors | Genes | Gangrene | Tumor necrosis factor-TNF | Mutation | Patients | Fever | Chronic illnesses | Index Medicus
Journal Article
by Brunner, Hermine I and Holland, Michael J and Beresford, Michael W and Ardoin, Stacy P and Appenzeller, Simone and Silva, Clovis A and Flores, Francisco and Goilav, Beatrice and Avar Aydin, Pinar Ozge and Wenderfer, Scott E and Levy, Deborah M and Ravelli, Angelo and Khubchandani, Raju and Avcin, Tadej and Klein-Gitelman, Marisa S and Ruperto, Nicolino and Feldman, Brian M and Ying, Jun and Battagliotti, Cristina and Brusco, Maria Isabel and Cuttica, Rubén and De Cunto, Carmen and Espada, Graciela and Farfan, Maximiliano and Garay, Stella and Marcantoni, Maria and Marcela, Alvarez and Meiorin, Silvia and Rama, Maria Elena and Russo, Ricardo and Torre Walsh, Carolina and Zamparo, Celso and Adib, Navid and Akikusa, Jonathan and Boros, Christina and Lee, Senq J and Mckay, Damien and Piper, Susan and Joos, Rik and Bica, Blanca and Campos, Leonardo and Cavalcanti, André and do Prado, Rogerio and Donner-Maliki, Amanda and Fernandes, Taciana and Fonseca, Adriana and Gasparello de Almeida, Rozana and Guariento, Andressa and Gusman, Catherine and Jusan Fiorot, Fernanda and Knupp Oliveira, Sheila and Len, Claudio and Arruda Campos, Lucia M and Machado, Sandra and Marques, Luciana and Martins de Carvalho, Luciana and Moulin, Rodrigo and Pedroso, Soraya and Pileggi, Gecilmara and Romanelli, Paulo Roberto S and Saad-Magalhaes, Claudia and Sakamoto, Ana and Santos, Maria Carolina and Silva, Marco Felipe and Spelling, Paulo and Sztajnbok, Slavio and Terreri, Maria and Cabral, David and Chédeville, Gaëlle and Ellsworth, Janet and Huber, Adam and Tucker, Lori and Houghton, Kristin and Borzutzky, Arturo and Ladino, Mabel and Norambuena, Ximena and Eraso, Ruth and Mosquera, Angela and Velasquez, Monica and Harjacek, Miroslav and Jelusic, Marija and Coto Hermosilla, Cecilia and Dolezalova, Pavla and Nielsen, Susan and Tineo, Carmen and Alegria, Mauricio and Dressler, Frank and Foell, Dirk and Ganser, Gerd and Hinze, Claas and Hufnagel, Markus and Lutz, Thomas and Trauzeddel, Ralf and Boiu, Sorina and Trachana, Maria and Tsitsami, Elena and Cifuentes, Mayra and Orbán, Ilonka and Aggarwal, Amita and Sawhney, Sujata and ... and Pediat Rheumatology Collaborative and Paediat Rheumatology Int Trial Org and Paediatric Rheumatology International Trial Organisation and Pediatric Rheumatology Collaborative Study Group and the Paediatric Rheumatology International Trial Organisation and Pediatric Rheumatology Collaborative Study Group
Arthritis Care and Research, ISSN 2151-464X, 05/2019, Volume 71, Issue 5, pp. 579 - 590
Objective To develop a Childhood Lupus Improvement Index (CHILI) as a tool to measure response to therapy in childhood-onset systemic lupus erythematosus... 
OMERACT FILTER | DEFINITION | PROSPECTIVE VALIDATION | THERAPY | DISEASE-ACTIVITY INDEX | CLASSIFICATION | GLOBAL FLARES | RHEUMATOLOGY | OUTCOME MEASUREMENT SETS | REMISSION | Lupus | Creatinine | Urine | Adolescence | Transformation | Systemic lupus erythematosus | Rheumatology | Children
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 10/2011, Volume 208, Issue 11, pp. 2305 - 2320
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/1999, Volume 23, Issue 3, pp. 319 - 322
Journal Article
by Riccardo Papa and Alessandro Consolaro and Francesca Minoia and Roberta Caorsi and Gianmichele Magnano and Marco Gattorno and Angelo Ravelli and Paolo Picco and Roberto Pillon and Denise Pires Marafon and Lidia Meli and Claudia Bracaglia and Andrea Taddio and Fabrizio De Benedetti and Enes Turan and Sara Sebnem Kilic and Yasuhiko Itoh and Tomoko Shigemori and Shingo Yamanishi and Hidehiko Nagasaki and Ela Tarakci and Nilay Arman and Devrim Tarakci and Yusuf S. Akgul and Ozgur Kasapcopur and Emily Wilson and Hanna Lythgoe and Eve Smith and Jenny Preston and Michael W. Beresford and Lynn R. Spiegel and Jennifer Stinson and Mark Connelly and Adam Huber and Nadia Luca and Argerie Tsimicalis and Stephanie Luca and Naweed Tajuddin and Roberta Berard and Julie Barsalou and Sarah Campillo and Brian Feldman and Shirley Tse and Paul Dancey and Ciaran Duffy and Nicole Johnson and Patrick McGrath and Natalie Shiff and Lori Tucker and Charles Victor and Lynn R. Spiegel and Chitra Lalloo and Lauren Harris and Joseph Cafazzo and Lori Tucker and Kristin Houghton and Brian Feldman and Nadia Luca and Ronald Laxer and Jennifer Stinson and Nilay Arman and Ela Tarakci and Ozgur Kasapcopur and Madeleine Rooney and Roisin Campbell and Catherine Wright and Wineke Armbrust and Otto Lelieveld and Jolanda Tuinstra and Nico Wulffraat and Joyce Bos and Jeanette Cappon and Marion van Rossum and Mariët Hagedoorn and Anna Vermé and Ylva Lampela and Ayse Huri Ozdogan and S. Ugurlu and K. Barut and A. Androvic and O. Kasapçopu and Emily Wilson and Jody Etheridge and Eve Smith and Katie Dobson and Sue Kemp and Michael W. Beresford and AnnaCarin Horne and Karin Palmblad and Malin Höglund and Natalia Stepanenko and Svetlana Salugina and Evgeny Fedorov and Irina Nikishina and Maria Kaleda and Nilay Arman and Ela Tarakci and Kenan Barut and Amra Adrovic and Sezgin Sahin and ...
Pediatric Rheumatology Online Journal, 05/2017, Volume 15, Issue S1, pp. 203 - 259
Journal Article
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, ISSN 0392-856X, 05/2015, Volume 33, Issue 3, pp. S69 - S70
Conference Proceeding
by Papa, Riccardo and Consolaro, Alessandro and Minoia, Francesca and Caorsi, Roberta and Magnano, Gianmichele and Gattorno, Marco and Ravelli, Angelo and Picco, Paolo and Pillon, Roberto and Marafon, Denise Pires and Meli, Lidia and Bracaglia, Claudia and Taddio, Andrea and De Benedetti, Fabrizio and Turan, Enes and Kilic, Sara Sebnem and Itoh, Yasuhiko and Shigemori, Tomoko and Yamanishi, Shingo and Nagasaki, Hidehiko and Tarakci, Ela and Arman, Nilay and Tarakci, Devrim and Akgul, Yusuf S and Kasapcopur, Ozgur and Wilson, Emily and Lythgoe, Hanna and Smith, Eve and Preston, Jenny and Beresford, Michael W and Spiegel, Lynn R and Stinson, Jennifer and Connelly, Mark and Huber, Adam and Luca, Nadia and Tsimicalis, Argerie and Luca, Stephanie and Tajuddin, Naweed and Berard, Roberta and Barsalou, Julie and Campillo, Sarah and Feldman, Brian and Tse, Shirley and Dancey, Paul and Duffy, Ciaran and Johnson, Nicole and McGrath, Patrick and Shiff, Natalie and Tucker, Lori and Victor, Charles and Lalloo, Chitra and Harris, Lauren and Cafazzo, Joseph and Houghton, Kristin and Laxer, Ronald and Rooney, Madeleine and Campbell, Roisin and Wright, Catherine and Armbrust, Wineke and Lelieveld, Otto and Tuinstra, Jolanda and Wulffraat, Nico and Bos, Joyce and Cappon, Jeanette and van Rossum, Marion and Hagedoorn, Mariët and Vermé, Anna and Lampela, Ylva and Ozdogan, Ayse Huri and Ugurlu, S and Barut, K and Androvic, A and Kasapçopu, O and Etheridge, Jody and Dobson, Katie and Kemp, Sue and Horne, AnnaCarin and Palmblad, Karin and Höglund, Malin and Stepanenko, Natalia and Salugina, Svetlana and Fedorov, Evgeny and Nikishina, Irina and Kaleda, Maria and Barut, Kenan and Adrovic, Amra and Sahin, Sezgin and Toumoulin, Laurence and Frossard, Johnny and Archimbaut, Stephanie and Paitier, Anne and Guastalli, Rolande and Czitrom, Severine Guillaume and Charuvanij, Sirirat and Chaiyadech, Chollada and Miyamae, Takako and Yamanaka, Hisashi and Picard, Cecile and Thouvenin, Guillaume and Kannengiesser, Caroline and ... and PRINTO/PRCSG and Uveitis Working Group of the Spanish Pediatric Rheumatology Society
Pediatric Rheumatology, ISSN 1546-0096, 05/2017, Volume 15, Issue S1
Journal Article
Conference Proceeding
Cell, ISSN 0092-8674, 2001, Volume 107, pp. 513- - 5123
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein... 
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/1999, Volume 65, Issue 4, pp. A48 - A48
Conference Proceeding
MOLECULAR BIOLOGY OF THE CELL, ISSN 1059-1524, 11/1999, Volume 10, pp. 460A - 460A
Conference Proceeding
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/1997, Volume 61, Issue 4, pp. A48 - A48
Conference Proceeding
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/1999, Volume 65, Issue 4, pp. A47 - A47
Conference Proceeding
ARTHRITIS AND RHEUMATISM, ISSN 0004-3591, 09/1997, Volume 40, Issue 9, pp. 1662 - 1662
Conference Proceeding
ARTHRITIS AND RHEUMATISM, ISSN 0004-3591, 09/2000, Volume 43, Issue 9, pp. S116 - S116
Conference Proceeding
05/2002, ISBN 9780471251859, 3
This chapter presents progressive pseudorheumatoid dysplasia (PPD), initially reported by Wynne‐Davies et al. as spondyloepiphyseal dysplasia tarda with... 
differential diagnosis | WISP3 protein | genetics | radiographic features | histopathology | progressive pseudorheumatoid dysplasia (PPD) | clinical features
Book Chapter
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