Class information for:
Level 1: DYGGVE MELCHIOR CLAUSEN SYNDROME//DYMECLIN//AXIAL OSTEOMALACIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
35936 89 15.7 50%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
14 4 ORTHOPEDICS//DENTISTRY, ORAL SURGERY & MEDICINE//SPORT SCIENCES 808941
474 3       CLEFT PALATE-CRANIOFACIAL JOURNAL//CLEFT PALATE//CRANIOSYNOSTOSIS 23888
2658 2             ACHONDROPLASIA//SKELETAL DYSPLASIA//HYPOCHONDROPLASIA 3456
35936 1                   DYGGVE MELCHIOR CLAUSEN SYNDROME//DYMECLIN//AXIAL OSTEOMALACIA 89

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 DYGGVE MELCHIOR CLAUSEN SYNDROME authKW 2401680 8% 100% 7
2 DYMECLIN authKW 1097909 4% 80% 4
3 AXIAL OSTEOMALACIA authKW 1029292 3% 100% 3
4 FIBROGENESIS IMPERFECTA OSSIUM authKW 1029292 3% 100% 3
5 DYGGVE MELCHIOR CLAUSEN authKW 686194 2% 100% 2
6 DYGGVE MELCHIOR CLAUSEN SYNDROME DMC authKW 686194 2% 100% 2
7 GURRIERI SYNDROME authKW 457462 2% 67% 2
8 OSTEOMESOPYKNOSIS authKW 457462 2% 67% 2
9 ANTEROCERVICAL FUSION authKW 343097 1% 100% 1
10 AXIAL OSTEOSCLEROSIS authKW 343097 1% 100% 1

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Genetics & Heredity 744 38% 0% 34
2 Orthopedics 434 19% 0% 17
3 Pediatrics 170 16% 0% 14
4 Radiology, Nuclear Medicine & Medical Imaging 151 17% 0% 15
5 Endocrinology & Metabolism 77 12% 0% 11
6 Surgery 10 8% 0% 7
7 Medicine, Research & Experimental 3 3% 0% 3
8 Medical Laboratory Technology 2 1% 0% 1
9 Psychology, Developmental 2 1% 0% 1
10 Rheumatology 2 1% 0% 1

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 CNRS UP 3410 343097 1% 100% 1
2 MED A GEMELLI IST GENET MED LARGO F VITO 1 343097 1% 100% 1
3 MED GENETU676 343097 1% 100% 1
4 SAN ANTONIO ORTHOPAED MC 7774 343097 1% 100% 1
5 SERV NEUROPEDIATRIA RADIODIAGNOST 343097 1% 100% 1
6 UNITE INSERM U574 343097 1% 100% 1
7 UNITE INSERM U676 343097 1% 100% 1
8 LEICESTER GENET 171548 1% 50% 1
9 GENET CARDIOVASC SCI 85773 1% 25% 1
10 DEV BRAIN IMAGING SCI BIOMED ENGN 68618 1% 20% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 CLINICAL DYSMORPHOLOGY 4920 4% 0% 4
2 SKELETAL RADIOLOGY 4269 9% 0% 8
3 AMERICAN JOURNAL OF MEDICAL GENETICS 1917 8% 0% 7
4 BONE 1287 6% 0% 5
5 JOURNAL OF MEDICAL GENETICS 945 4% 0% 4
6 HELVETICA PAEDIATRICA ACTA 722 1% 0% 1
7 CLINICAL GENETICS 603 3% 0% 3
8 PROTEIN & CELL 564 1% 0% 1
9 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 532 3% 0% 3
10 HUMAN MUTATION 343 2% 0% 2

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 DYGGVE MELCHIOR CLAUSEN SYNDROME 2401680 8% 100% 7 Search DYGGVE+MELCHIOR+CLAUSEN+SYNDROME Search DYGGVE+MELCHIOR+CLAUSEN+SYNDROME
2 DYMECLIN 1097909 4% 80% 4 Search DYMECLIN Search DYMECLIN
3 AXIAL OSTEOMALACIA 1029292 3% 100% 3 Search AXIAL+OSTEOMALACIA Search AXIAL+OSTEOMALACIA
4 FIBROGENESIS IMPERFECTA OSSIUM 1029292 3% 100% 3 Search FIBROGENESIS+IMPERFECTA+OSSIUM Search FIBROGENESIS+IMPERFECTA+OSSIUM
5 DYGGVE MELCHIOR CLAUSEN 686194 2% 100% 2 Search DYGGVE+MELCHIOR+CLAUSEN Search DYGGVE+MELCHIOR+CLAUSEN
6 DYGGVE MELCHIOR CLAUSEN SYNDROME DMC 686194 2% 100% 2 Search DYGGVE+MELCHIOR+CLAUSEN+SYNDROME+DMC Search DYGGVE+MELCHIOR+CLAUSEN+SYNDROME+DMC
7 GURRIERI SYNDROME 457462 2% 67% 2 Search GURRIERI+SYNDROME Search GURRIERI+SYNDROME
8 OSTEOMESOPYKNOSIS 457462 2% 67% 2 Search OSTEOMESOPYKNOSIS Search OSTEOMESOPYKNOSIS
9 ANTEROCERVICAL FUSION 343097 1% 100% 1 Search ANTEROCERVICAL+FUSION Search ANTEROCERVICAL+FUSION
10 AXIAL OSTEOSCLEROSIS 343097 1% 100% 1 Search AXIAL+OSTEOSCLEROSIS Search AXIAL+OSTEOSCLEROSIS

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 KHALIFA, O , IMTIAZ, F , AL-SAKATI, N , AL-MANEA, K , VERLOES, A , AL-OWAIN, M , (2011) DYGGVE-MELCHIOR-CLAUSEN SYNDROME: NOVEL SPLICE MUTATION WITH ATLANTO-AXIAL SUBLUXATION.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 170. ISSUE 1. P. 121-126 13 100% 2
2 HEURSEN, EM , PARTIDA, MDG , EXPOSITO, JP , DIAZ, FN , (2016) OSTEOMESOPYKNOSIS-A BENIGN AXIAL HYPEROSTOSIS THAT CAN MIMIC METASTATIC DISEASE.SKELETAL RADIOLOGY. VOL. 45. ISSUE 1. P. 141 -146 11 85% 1
3 MARTINEZ-FRIAS, ML , CORMIER-DAIRE, V , COHN, DH , MENDIOROZ, J , BERMEJO, E , MANSILLA, E , (2007) DYGGVE-MELCHIOR-CLAUSEN SYNDROME: PRESENTATION OF A CASE WITH A MUTATION OF POSSIBLE SPANISH ORIGIN.MEDICINA CLINICA. VOL. 128. ISSUE 4. P. 137 -140 10 100% 2
4 PAUPE, V , GILBERT, T , LE MERRER, M , MUNNICH, A , CORMIER-DAIRE, V , EL GHOUZZI, V , (2004) RECENT ADVANCES IN DYGGVE-MELCHIOR-CLAUSEN SYNDROME.MOLECULAR GENETICS AND METABOLISM. VOL. 83. ISSUE 1-2. P. 51-59 12 86% 19
5 NECTOUX, E , HOCQUET, B , FRON, D , MEZEL, A , PARIS, A , HERBAUX, B , (2013) UNPREDICTABILITY OF HIP BEHAVIOR IN DYGGVE-MELCHIOR-CLAUSEN SYNDROME: A MID-TERM ASSESSMENT OF SIBLINGS.ORTHOPAEDICS & TRAUMATOLOGY-SURGERY & RESEARCH. VOL. 99. ISSUE 6. P. 745-748 8 100% 0
6 DUPUIS, N , LEBON, S , KUMAR, M , DRUNAT, S , GRAUL-NEUMANN, LM , GRESSENS, P , EL GHOUZZI, V , (2013) A NOVEL RAB33B MUTATION IN SMITHMCCORT DYSPLASIA.HUMAN MUTATION. VOL. 34. ISSUE 2. P. 283-286 10 71% 3
7 EPPERLA, N , MCKIERNAN, FE , KENNEY, CV , (2014) RADIOGRAPHIC FINDINGS IN WALDENSTROM'S MACROGLOBULINEMIA RESEMBLING FIBROGENESIS IMPERFECTA OSSIUM (FIO): A CASE REPORT.SKELETAL RADIOLOGY. VOL. 43. ISSUE 3. P. 381-385 8 89% 0
8 SANTOS, HG , FERNANDES, HC , NUNES, JL , ALMELDA, MR , (2009) PORTUGUESE CASE OF SMITH-MCCORT SYNDROME CAUSED BY A NEW MUTATION IN THE DYMECLIN (FLJ20071) GENE.CLINICAL DYSMORPHOLOGY. VOL. 18. ISSUE 1. P. 41-44 7 100% 3
9 DUPUIS, N , FAFOURI, A , BAYOT, A , KUMAR, M , LECHARPENTIER, T , BALL, G , EDWARDS, D , BERNARD, V , DOURNAUD, P , DRUNAT, S , ET AL (2015) DYMECLIN DEFICIENCY CAUSES POSTNATAL MICROCEPHALY, HYPOMYELINATION AND RETICULUM-TO-GOLGI TRAFFICKING DEFECTS IN MICE AND HUMANS.HUMAN MOLECULAR GENETICS. VOL. 24. ISSUE 10. P. 2771 -2783 15 39% 1
10 BURNS, C , POWELL, BR , HSIA, YE , REINKER, K , (2003) DYGGVE-MELCHIOR-CLAUSEN SYNDROME: REPORT OF SEVEN PATIENTS WITH THE SMITH-MCCORT VARIANT AND REVIEW OF THE LITERATURE.JOURNAL OF PEDIATRIC ORTHOPAEDICS. VOL. 23. ISSUE 1. P. 88-93 9 90% 8

Classes with closest relation at Level 1


Rank Class id link
1 33881 TRAPP//SEDLIN//SEDL
2 10915 STICKLER SYNDROME//COL2A1//PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
3 32072 DE INSTITUTIONALIZATION LONG STAY PATIENTS//DOWN SYNDROME CHILDREN//PSYCHIC DEPRIVATION
4 21512 MELORHEOSTOSIS//OSTEOPOIKILOSIS//OSTEOPATHIA STRIATA
5 33110 MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA
6 37600 PSYCHONEUROENDOCRINOL KRAEPEL R 10//MAGNESIUM-BULLETIN//ENDOCRINE NEOPLASIA
7 26149 DUBOWITZ SYNDROME//DOOR SYNDROME//COFFIN SIRIS SYNDROME
8 20535 PSEUDOACHONDROPLASIA//MULTIPLE EPIPHYSEAL DYSPLASIA//MATRILIN
9 25863 LOWE SYNDROME//OCULOCEREBRORENAL SYNDROME//OCRL1
10 18053 SECKEL SYNDROME//ASPM//MCPH1

Go to start page