Class information for:
Level 1: STICKLER SYNDROME//COL2A1//PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
10915 1025 23.7 64%


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
10915 1                   STICKLER SYNDROME//COL2A1//PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA 1025

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 STICKLER SYNDROME authKW 1611095 7% 81% 67
2 COL2A1 authKW 1444459 7% 65% 75
3 PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA authKW 565992 2% 100% 19
4 PLATYSPONDYLY authKW 505008 3% 63% 27
5 SPONDYLOEPIMETAPHYSEAL DYSPLASIA authKW 410516 2% 66% 21
6 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA authKW 381293 2% 80% 16
7 SPONDYLOMETAPHYSEAL DYSPLASIA authKW 381293 2% 80% 16
8 CHONDRODYSPLASIA authKW 315758 4% 24% 45
9 KNIEST DYSPLASIA authKW 306398 1% 86% 12
10 COL2A1 MUTATION authKW 297890 1% 100% 10

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 9246 40% 0% 406
2 Rheumatology 1638 8% 0% 77
3 Ophthalmology 1477 11% 0% 110
4 Pediatrics 1372 13% 0% 137
5 Orthopedics 897 8% 0% 87
6 Radiology, Nuclear Medicine & Medical Imaging 377 9% 0% 88
7 Medical Ethics 193 1% 0% 9
8 Developmental Biology 89 2% 0% 23
9 Anatomy & Morphology 64 1% 0% 13
10 Pathology 57 3% 0% 29

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 VITREORETINAL SERV 67970 2% 10% 22
2 VITREORETINAL GRP 67024 0% 75% 3
3 PEDIAT 8700 BEVERLY BLVD 59578 0% 100% 2
4 SERV OPHTALMOLSORBONNE PARIS CITE 53618 0% 60% 3
5 AMARILLO LUBBOCK PEDIAT 29789 0% 100% 1
6 ASSOCIE SANTE RECH MED UMR S910 29789 0% 100% 1
7 ASTRID LINDGREN CHILDRENSS HOSP 29789 0% 100% 1
8 ATTACHED CHANGZHI MED 29789 0% 100% 1
9 AUVA TRAUMAN MEIDLING 29789 0% 100% 1
10 BIOCHIM GENET MOLSORBONNE PARIS CITE M 29789 0% 100% 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 AMERICAN JOURNAL OF MEDICAL GENETICS 33344 10% 1% 99
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 25269 7% 1% 70
3 CLINICAL DYSMORPHOLOGY 14101 2% 2% 23
4 PEDIATRIC RADIOLOGY 9362 4% 1% 46
5 JOURNAL OF MEDICAL GENETICS 7390 4% 1% 38
6 PATHOLOGY AND IMMUNOPATHOLOGY RESEARCH 5387 0% 4% 5
7 BIRTH DEFECTS-ORIGINAL ARTICLE SERIES 2738 0% 2% 5
8 GENETIC COUNSELING 2546 1% 1% 9
9 SKELETAL RADIOLOGY 2522 2% 0% 21
10 AMERICAN JOURNAL OF HUMAN GENETICS 1926 2% 0% 23

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 STICKLER SYNDROME 1611095 7% 81% 67 Search STICKLER+SYNDROME Search STICKLER+SYNDROME
2 COL2A1 1444459 7% 65% 75 Search COL2A1 Search COL2A1
3 PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA 565992 2% 100% 19 Search PROGRESSIVE+PSEUDORHEUMATOID+DYSPLASIA Search PROGRESSIVE+PSEUDORHEUMATOID+DYSPLASIA
4 PLATYSPONDYLY 505008 3% 63% 27 Search PLATYSPONDYLY Search PLATYSPONDYLY
5 SPONDYLOEPIMETAPHYSEAL DYSPLASIA 410516 2% 66% 21 Search SPONDYLOEPIMETAPHYSEAL+DYSPLASIA Search SPONDYLOEPIMETAPHYSEAL+DYSPLASIA
6 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 381293 2% 80% 16 Search SPONDYLOEPIPHYSEAL+DYSPLASIA+CONGENITA Search SPONDYLOEPIPHYSEAL+DYSPLASIA+CONGENITA
7 SPONDYLOMETAPHYSEAL DYSPLASIA 381293 2% 80% 16 Search SPONDYLOMETAPHYSEAL+DYSPLASIA Search SPONDYLOMETAPHYSEAL+DYSPLASIA
8 CHONDRODYSPLASIA 315758 4% 24% 45 Search CHONDRODYSPLASIA Search CHONDRODYSPLASIA
9 KNIEST DYSPLASIA 306398 1% 86% 12 Search KNIEST+DYSPLASIA Search KNIEST+DYSPLASIA
10 COL2A1 MUTATION 297890 1% 100% 10 Search COL2A1+MUTATION Search COL2A1+MUTATION

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 BARAT-HOUARI, M , SARRABAY, G , GATINOIS, V , FABRE, A , DUMONT, B , GENEVIEVE, D , TOUITOU, I , (2016) MUTATION UPDATE FOR COL2A1 GENE VARIANTS ASSOCIATED WITH TYPE II COLLAGENOPATHIES.HUMAN MUTATION. VOL. 37. ISSUE 1. P. 7 -15 102 89% 4
2 DENG, H , HUANG, XJ , YUAN, LM , (2016) MOLECULAR GENETICS OF THE COL2A1-RELATED DISORDERS.MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH. VOL. 768. ISSUE . P. 1 -13 126 86% 0
3 ACKE, FRE , DHOOGE, IJM , MALFAIT, F , DE LEENHEER, EMR , (2012) HEARING IMPAIRMENT IN STICKLER SYNDROME: A SYSTEMATIC REVIEW.ORPHANET JOURNAL OF RARE DISEASES. VOL. 7. ISSUE . P. - 57 83% 9
4 SNEAD, MP , MCNINCH, AM , POULSON, AV , BEARCROFT, P , SILVERMAN, B , GOMERSALL, P , PARFECT, V , RICHARDS, AJ , (2011) STICKLER SYNDROME, OCULAR-ONLY VARIANTS AND A KEY DIAGNOSTIC ROLE FOR THE OPHTHALMOLOGIST.EYE. VOL. 25. ISSUE 11. P. 1389 -1400 36 86% 25
5 VEERAVAGU, A , LAD, SP , CAMARA-QUINTANA, JQ , JIANG, BW , SHUER, L , (2013) NEUROSURGICAL INTERVENTIONS FOR SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: CLINICAL PRESENTATION AND ASSESSMENT OF THE LITERATURE.WORLD NEUROSURGERY. VOL. 80. ISSUE 3-4. P. - 37 82% 2
6 LIANG, GY , LIAN, CJ , HUANG, D , GAO, WJ , LIANG, AJ , PENG, Y , YE, W , WU, ZZ , SU, PQ , HUANG, DS , (2014) ENDOPLASMIC RETICULUM STRESS-UNFOLDING PROTEIN RESPONSE-APOPTOSIS CASCADE CAUSES CHONDRODYSPLASIA IN A COL2A1 P.GLY1170SER MUTATED MOUSE MODEL.PLOS ONE. VOL. 9. ISSUE 1. P. - 33 80% 10
7 SERGOUNIOTIS, PI , FINCHAM, GS , MCNINCH, AM , SPICKETT, C , POULSON, AV , RICHARDS, AJ , SNEAD, MP , (2015) OPHTHALMIC AND MOLECULAR GENETIC FINDINGS IN KNIEST DYSPLASIA.EYE. VOL. 29. ISSUE 4. P. 475 -482 31 84% 1
8 SNEAD, MP , YATES, JRW , (1999) CLINICAL AND MOLECULAR GENETICS OF STICKLER SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 36. ISSUE 5. P. 353 -359 36 90% 170
9 BARAT-HOUARI, M , DUMONT, B , FABRE, A , THEM, FTM , ALEMBIK, Y , ALESSANDRI, JL , AMIEL, J , AUDEBERT, S , BAUMANN-MOREL, C , BLANCHET, P , ET AL (2016) THE EXPANDING SPECTRUM OF COL2A1 GENE VARIANTS IN136 PATIENTS WITH A SKELETAL DYSPLASIA PHENOTYPE.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 24. ISSUE 7. P. 992 -1000 28 85% 1
10 DONOSO, LA , EDWARDS, AO , FROST, AT , RITTER, R , AHMAD, N , VRABEC, T , ROGERS, J , MEYER, D , PARMA, S , (2003) CLINICAL VARIABILITY OF STICKLER SYNDROME: ROLE OF EXON 2 OF THE COLLAGEN COL2A1 GENE.SURVEY OF OPHTHALMOLOGY. VOL. 48. ISSUE 2. P. 191-203 36 88% 29

Classes with closest relation at Level 1


Rank Class id link
1 33881 TRAPP//SEDLIN//SEDL
2 20535 PSEUDOACHONDROPLASIA//MULTIPLE EPIPHYSEAL DYSPLASIA//MATRILIN
3 35936 DYGGVE MELCHIOR CLAUSEN SYNDROME//DYMECLIN//AXIAL OSTEOMALACIA
4 9853 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
5 8944 TYPE V COLLAGEN//COLLAGEN XII//TYPE XI COLLAGEN
6 27105 LARSEN SYNDROME//CONGENITAL DISLOCATION OF THE KNEE//DESBUQUOIS DYSPLASIA
7 9865 TYPE X COLLAGEN//GROWTH PLATE//CARTILAGE CANALS
8 3041 OSTEOGENESIS IMPERFECTA//BONE EXTRACELLULAR MATRIX BRANCH//BRUCK SYNDROME
9 33700 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD
10 11314 HAND OSTEOARTHRITIS//EROSIVE OSTEOARTHRITIS//HAND OA

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