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by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
Pediatric Allergy and Immunology, ISSN 0905-6157, 02/2016, Volume 27, Issue 1, pp. 78 - 82
Background The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial... 
hypogammaglobulinemia | PFAPA syndrome | MEFV | children | Hypogammaglobulinemia | Children | TURKISH CHILDREN | CERVICAL ADENITIS SYNDROME | ADENOPATHY SYNDROME | APHTHOUS STOMATITIS | IMMUNOLOGY | PHARYNGITIS | MEFV GENE | ALLERGY | HENOCH-SCHONLEIN PURPURA | DISEASE | FREQUENCY | PEDIATRICS | PERIODIC FEVER | Glucocorticoids - therapeutic use | Immunoglobulin G - blood | Cytoskeletal Proteins - genetics | Colchicine - therapeutic use | Humans | Child, Preschool | Infant | Male | Pharyngitis - genetics | Pharyngitis - diagnosis | Stomatitis, Aphthous - diagnosis | Stomatitis, Aphthous - genetics | Lymphadenitis - diagnosis | DNA Mutational Analysis | Anti-Inflammatory Agents - therapeutic use | Female | Lymphadenitis - drug therapy | Prednisolone - therapeutic use | Retrospective Studies | Lymphadenitis - blood | Child | Genetic Predisposition to Disease | Genetic Association Studies | Risk Factors | Familial Mediterranean Fever - genetics | Treatment Outcome | Biomarkers - blood | Familial Mediterranean Fever - drug therapy | Lymphadenitis - genetics | Pyrin | Syndrome | Familial Mediterranean Fever - blood | Homozygote | Phenotype | Stomatitis, Aphthous - blood | Stomatitis, Aphthous - drug therapy | Pharyngitis - drug therapy | Heterozygote | Familial Mediterranean Fever - diagnosis | Mutation | Pharyngitis - blood | Gene mutations | Analysis | Genes | Genetic research | Familial Mediterranean fever | Genetic aspects | Colchicine | Prednisolone | Pediatrics | Genetic disorders | Inflammatory diseases
Journal Article
European Radiology, ISSN 0938-7994, 07/2017, Volume 27, Issue 7, pp. 3013 - 3021
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | cognitive impairment | Johanson–Blizzard syndrome | UBR1 | exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Anatomy & Cell Biology, ISSN 2093-3665, 09/2015, Volume 48, Issue 3, pp. 222 - 224
We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable... 
Brain malformation | Magnetic resonance imaging | Ventricles | Holoprosencephaly | Case Report | 해부학
Journal Article
Experimental Dermatology, ISSN 0906-6705, 2018
In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological... 
elastic fiber disarray | von Willebrand disease type 2 | ATPV60A2-related cutis laxa | management | pulmonary emphysema
Journal Article
The Journal of Obstetrics and Gynecology of India, ISSN 0971-9202, 2/2019, Volume 69, Issue 1, pp. 56 - 61
To determine long-term outcome of infants with isolated or multiple soft markers but no structural or chromosomal abnormalities.A retrospective study of 78... 
Obstetrics/Perinatology/Midwifery | Medicine & Public Health | Gynecology | Outcome | Ultrasonography | Fetus | Long-term | Soft marker | Follow-up
Journal Article
Cumhuriyet Medical Journal, ISSN 1305-0028, 12/2018
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1181 - 1189
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, p. 1181
  Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the... 
Proteins | Genetic disorders | Congenital diseases | Mutation | Muscular dystrophy | Brain diseases
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 25
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 18
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 2
Journal Article
Journal Article
Journal of Neurological Sciences, ISSN 1300-1817, 2016, Volume 33, Issue 1, pp. 012 - 019
Journal Article