Class information for:
Level 1: TRICHORHINOPHALANGEAL SYNDROME//TRPS1//LANGER GIEDION SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
25749 273 27.1 68%


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
10 4 OPTICS//PHYSICS, PARTICLES & FIELDS//PHYSICS, MULTIDISCIPLINARY 1131262
487 3       OPTICS//LASER PHYS CHEM//OPTICAL VORTEX 23356
2362 2             OPTICAL TWEEZERS//OPTICAL TRAPPING//OPTICAL MANIPULATION 4338
25749 1                   TRICHORHINOPHALANGEAL SYNDROME//TRPS1//LANGER GIEDION SYNDROME 273

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 TRICHORHINOPHALANGEAL SYNDROME authKW 3939327 14% 93% 38
2 TRPS1 authKW 2850495 11% 88% 29
3 LANGER GIEDION SYNDROME authKW 1480375 5% 88% 15
4 TRPS1 GENE authKW 1006658 3% 100% 9
5 PEAR SHAPED NOSE authKW 335553 1% 100% 3
6 BENT BONE DYSPLASIA authKW 223702 1% 100% 2
7 CHROMOSOME 8Q DELETION authKW 223702 1% 100% 2
8 CORNELIA DE LANGE SYNDROME 4 authKW 223702 1% 100% 2
9 INTENS CARE NEUROL METAB DIS address 223702 1% 100% 2
10 TRICHORHINOPHALANGEAL SYNDROME TYPE II authKW 223702 1% 100% 2

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 2552 40% 0% 110
2 Dermatology 530 11% 0% 30
3 Pediatrics 377 14% 0% 37
4 Rheumatology 57 3% 0% 8
5 Developmental Biology 44 3% 0% 8
6 Orthopedics 27 3% 0% 9
7 Radiology, Nuclear Medicine & Medical Imaging 17 4% 0% 12
8 Pathology 17 3% 0% 8
9 Cell Biology 12 5% 0% 15
10 Biochemistry & Molecular Biology 11 10% 0% 28

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 INTENS CARE NEUROL METAB DIS 223702 1% 100% 2
2 AVDELING MED GENET 111851 0% 100% 1
3 BIALYSTOK PERINATOL 111851 0% 100% 1
4 BIDMC CVBR 111851 0% 100% 1
5 CLIN GENET RARE DIS 111851 0% 100% 1
6 CLIN PLA 111851 0% 100% 1
7 CNRSUMR915 111851 0% 100% 1
8 FDN CLIN VALLE DEL LILL 111851 0% 100% 1
9 FUNCT GENOM PLATEFORM 111851 0% 100% 1
10 GEN PEDIAT INFEC DIS UNIT 111851 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 PART A 4351 5% 0% 15
2 AMERICAN JOURNAL OF MEDICAL GENETICS 3257 6% 0% 16
3 HUMAN GENETICS 3147 5% 0% 15
4 JOURNAL DE GENETIQUE HUMAINE 2401 1% 1% 2
5 CLINICAL GENETICS 1769 3% 0% 9
6 JOURNAL OF MEDICAL GENETICS 1554 3% 0% 9
7 PEDIATRIC ENDOCRINOLOGY REVIEWS PER 1163 0% 1% 1
8 JOURNAL OF BONE ONCOLOGY 1015 0% 1% 1
9 MOLECULAR CYTOGENETICS 919 1% 0% 2
10 CLINICAL DYSMORPHOLOGY 898 1% 0% 3

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 TRICHORHINOPHALANGEAL SYNDROME 3939327 14% 93% 38 Search TRICHORHINOPHALANGEAL+SYNDROME Search TRICHORHINOPHALANGEAL+SYNDROME
2 TRPS1 2850495 11% 88% 29 Search TRPS1 Search TRPS1
3 LANGER GIEDION SYNDROME 1480375 5% 88% 15 Search LANGER+GIEDION+SYNDROME Search LANGER+GIEDION+SYNDROME
4 TRPS1 GENE 1006658 3% 100% 9 Search TRPS1+GENE Search TRPS1+GENE
5 PEAR SHAPED NOSE 335553 1% 100% 3 Search PEAR+SHAPED+NOSE Search PEAR+SHAPED+NOSE
6 BENT BONE DYSPLASIA 223702 1% 100% 2 Search BENT+BONE+DYSPLASIA Search BENT+BONE+DYSPLASIA
7 CHROMOSOME 8Q DELETION 223702 1% 100% 2 Search CHROMOSOME+8Q+DELETION Search CHROMOSOME+8Q+DELETION
8 CORNELIA DE LANGE SYNDROME 4 223702 1% 100% 2 Search CORNELIA+DE+LANGE+SYNDROME+4 Search CORNELIA+DE+LANGE+SYNDROME+4
9 TRICHORHINOPHALANGEAL SYNDROME TYPE II 223702 1% 100% 2 Search TRICHORHINOPHALANGEAL+SYNDROME+TYPE+II Search TRICHORHINOPHALANGEAL+SYNDROME+TYPE+II
10 TRICHORHINOPHALANGEAL SYNDROME TYPE III 223702 1% 100% 2 Search TRICHORHINOPHALANGEAL+SYNDROME+TYPE+III Search TRICHORHINOPHALANGEAL+SYNDROME+TYPE+III

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 BRENNER, P , HINKEL, GK , KRAUSE-BERGMANN, A , (2004) SURGICAL THERAPY OF CONE-SHAPED EPIPHYSES OF THE PROXIMAL INTERPHALANGEAL JOINTS IN TRICHO-RHINO-PHALANGEAL SYNDROME TYPE I: A SURVEY AMONG THREE SUCCESSIVE GENERATIONS OF A SINGLE FAMILY.ZENTRALBLATT FUR CHIRURGIE. VOL. 129. ISSUE 6. P. 460-469 35 85% 0
2 GAI, ZB , GUI, T , MURAGAKI, Y , (2011) THE FUNCTION OF TRPS1 IN THE DEVELOPMENT AND DIFFERENTIATION OF BONE, KIDNEY, AND HAIR FOLLICLES.HISTOLOGY AND HISTOPATHOLOGY. VOL. 26. ISSUE 7. P. 915 -921 26 74% 9
3 MORIOKA, D , HOSAKA, Y , (2000) AESTHETIC AND PLASTIC SURGERY FOR TRICHORHINOPHALANGEAL SYNDROME.AESTHETIC PLASTIC SURGERY. VOL. 24. ISSUE 1. P. 39-45 29 88% 6
4 SCHINZEL, A , RIEGEL, M , BAUMER, A , SUPERTI-FURGA, A , MOREIRA, LMA , SANTO, LDE , SCHIPER, PP , CARVALHO, JHD , GIEDION, A , (2013) LONG-TERM FOLLOW-UP OF FOUR PATIENTS WITH LANGER-GIEDION SYNDROME: CLINICAL COURSE AND COMPLICATIONS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161. ISSUE 9. P. 2216-2225 19 83% 4
5 MAAS, SM , SHAW, AC , BIKKER, H , LUDECKE, HJ , VAN DER TUIN, K , BADURA-STRONKA, M , BELLIGNI, E , BIAMINO, E , BONATI, MT , CARVALHO, DR , ET AL (2015) PHENOTYPE AND GENOTYPE IN 103 PATIENTS WITH TRICHO-RHINO-PHALANGEAL SYNDROME.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 58. ISSUE 5. P. 279 -292 16 76% 9
6 HUFELAND, M , RAHNER, N , KRAUSPE, R , (2015) TRICHORHINOPHALANGEAL SYNDROME TYPE I: A NOVEL MUTATION AND PERTHES-LIKE CHANGES OF THE HIP IN A FAMILY WITH 4 CASES OVER 3 GENERATIONS.JOURNAL OF PEDIATRIC ORTHOPAEDICS. VOL. 35. ISSUE 1. P. E1 -E5 17 74% 1
7 TASIC, V , GUCEV, Z , RISTOSKA-BOJKOVSKA, N , JANCHEVSKA, A , LUDECKE, HJ , (2014) TRICHO-RHINO-PHALANGEAL SYNDROME IN A 13-YEAR-OLD GIRL WITH CHRONIC RENAL FAILURE AND SEVERE GROWTH RETARDATION.RENAL FAILURE. VOL. 36. ISSUE 4. P. 619-622 15 83% 0
8 RUIZ-BOTERO, F , PACHAJOA, H , (2016) LANGER-GIEDION SYNDROME WITH 8Q23.1-Q24.12 DELETION DIAGNOSED BY COMPARATIVE GENOMIC HYBRIDIZATION.ARCHIVOS ARGENTINOS DE PEDIATRIA. VOL. 114. ISSUE 4. P. E228 -E232 13 87% 0
9 WU, LL , WANG, YZ , LIU, Y , YU, SY , XIE, H , SHI, XJ , QIN, S , MA, F , TAN, TZ , THIERY, JP , ET AL (2014) A CENTRAL ROLE FOR TRPS1 IN THE CONTROL OF CELL CYCLE AND CANCER DEVELOPMENT.ONCOTARGET. VOL. 5. ISSUE 17. P. 7677 -7690 28 37% 8
10 SCHACHT, V , BORELLI, S , TSAMBAOS, D , SPYCHER, MA , TRUEB, RM , (2001) THE TRICHORHINOPHALANGEAL SYNDROME. CASE REPORT AND BIOPHYSICAL ANALYSIS OF THE HAIR SHAFT PARAMETERS.HAUTARZT. VOL. 52. ISSUE 1. P. 51-55 19 83% 1

Classes with closest relation at Level 1


Rank Class id link
1 27994 MICROCLONING//MICRODISSECTION AND MICROCLONING//CHROMOSOME SPECIFIC LIBRARY
2 8327 OSTEOCHONDROMA//HEREDITARY MULTIPLE EXOSTOSES//EXT2
3 32581 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
4 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS
5 20430 PROXIMAL SYMPHALANGISM//SYMPHALANGISM//NOG
6 21558 CUTIS VERTICIS GYRATA//CONGENITAL HYPERTRICHOSIS//HYPERTRICHOSIS CUBITI
7 32361 PARIETAL FORAMINA//FORAMINA PARIETALIA PERMAGNA//POTOCKI SHAFFER SYNDROME
8 9117 NUCLEIC ACIDS RESEARCH//CYTOGENETICS AND CELL GENETICS//MRC HUMAN ECOGENET UNIT
9 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
10 23749 NAIL PATELLA SYNDROME//LMX1B//COLLAGENOFIBROTIC GLOMERULOPATHY

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