Class information for:
Level 1: HAJDU CHENEY SYNDROME//ACROOSTEOLYSIS//SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
26933 241 34.0 69%


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
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
382 3       DUPUYTRENS DISEASE//PRESSURE ULCER//VARICOSE VEINS 31698
3791 2             LIPOID PROTEINOSIS//JUVENILE HYALINE FIBROMATOSIS//HAJDU CHENEY SYNDROME 968
26933 1                   HAJDU CHENEY SYNDROME//ACROOSTEOLYSIS//SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME 241

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 HAJDU CHENEY SYNDROME authKW 4607363 17% 91% 40
2 ACROOSTEOLYSIS authKW 1652610 12% 43% 30
3 SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME authKW 1013621 3% 100% 8
4 HADJU CHENEY SYNDROME authKW 380108 1% 100% 3
5 DUKE ORTHOPAED CELLULAR DEV GENOME S address 337871 2% 67% 4
6 NOTCH2 authKW 264333 5% 16% 13
7 SERPENTINE FIBULA authKW 253405 1% 100% 2
8 SERPENTINE FIBULA SYNDROME authKW 253405 1% 100% 2
9 BUREAU BARRIERE SYNDROME authKW 190051 1% 50% 3
10 RBPJ KAPPA authKW 142537 1% 38% 3

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 Endocrinology & Metabolism 494 18% 0% 44
2 Rheumatology 381 7% 0% 18
3 Cell Biology 174 15% 0% 37
4 Cell & Tissue Engineering 111 2% 0% 5
5 Orthopedics 106 6% 0% 15
6 Anatomy & Morphology 95 3% 0% 7
7 Genetics & Heredity 85 9% 0% 22
8 Radiology, Nuclear Medicine & Medical Imaging 72 8% 0% 19
9 Dermatology 69 5% 0% 11
10 Developmental Biology 52 3% 0% 8

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 DUKE ORTHOPAED CELLULAR DEV GENOME S 337871 2% 67% 4
2 UCONN MUSCULOSKELETAL 142537 1% 38% 3
3 ABT NEPHROL STOFFWECHSELERKRANKUNGEN 126703 0% 100% 1
4 ARTHRIT BONE METAB GASTROINTESTINAL DIS AREA 126703 0% 100% 1
5 DEV BIOENGN MIRA BIOMED TECHNOL TECH MED 126703 0% 100% 1
6 EST HOP ENFANTS 126703 0% 100% 1
7 HEPA UNIV HOSP 126703 0% 100% 1
8 MEDICINDA 126703 0% 100% 1
9 ORTHOPAED SURG DUKE ORTHOPAED CELLULAR DEV 126703 0% 100% 1
10 PLATEFORME MALAD RA 126703 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 BONE 2297 5% 0% 11
2 CURRENT OSTEOPOROSIS REPORTS 2065 1% 1% 2
3 MEDICINA DEL LAVORO 1214 1% 0% 2
4 CLINICAL DYSMORPHOLOGY 1018 1% 0% 3
5 OPEN LIFE SCIENCES 1012 0% 1% 1
6 JOINT BONE SPINE 653 1% 0% 3
7 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 541 2% 0% 5
8 JOURNAL OF BONE AND MINERAL RESEARCH 469 2% 0% 5
9 JOURNAL OF ANATOMY 450 2% 0% 4
10 MINERVA ENDOCRINOLOGICA 443 0% 0% 1

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 HAJDU CHENEY SYNDROME 4607363 17% 91% 40 Search HAJDU+CHENEY+SYNDROME Search HAJDU+CHENEY+SYNDROME
2 ACROOSTEOLYSIS 1652610 12% 43% 30 Search ACROOSTEOLYSIS Search ACROOSTEOLYSIS
3 SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME 1013621 3% 100% 8 Search SERPENTINE+FIBULA+POLYCYSTIC+KIDNEY+SYNDROME Search SERPENTINE+FIBULA+POLYCYSTIC+KIDNEY+SYNDROME
4 HADJU CHENEY SYNDROME 380108 1% 100% 3 Search HADJU+CHENEY+SYNDROME Search HADJU+CHENEY+SYNDROME
5 NOTCH2 264333 5% 16% 13 Search NOTCH2 Search NOTCH2
6 SERPENTINE FIBULA 253405 1% 100% 2 Search SERPENTINE+FIBULA Search SERPENTINE+FIBULA
7 SERPENTINE FIBULA SYNDROME 253405 1% 100% 2 Search SERPENTINE+FIBULA+SYNDROME Search SERPENTINE+FIBULA+SYNDROME
8 BUREAU BARRIERE SYNDROME 190051 1% 50% 3 Search BUREAU+BARRIERE+SYNDROME Search BUREAU+BARRIERE+SYNDROME
9 RBPJ KAPPA 142537 1% 38% 3 Search RBPJ+KAPPA Search RBPJ+KAPPA
10 ACRO OSTEOLYSIS ULCERO MUTILANS 126703 0% 100% 1 Search ACRO+OSTEOLYSIS+ULCERO+MUTILANS Search ACRO+OSTEOLYSIS+ULCERO+MUTILANS

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 STATHOPOULOS, IP , TROVAS, G , LAMPROPOULOU-ADAMIDOU, K , KOROMILA, T , KOLLIA, P , PAPAIOANNOU, NA , LYRITIS, G , (2013) SEVERE OSTEOPOROSIS AND MUTATION IN NOTCH2 GENE IN A WOMAN WITH HAJDU-CHENEY SYNDROME.BONE. VOL. 52. ISSUE 1. P. 366-371 20 100% 6
2 GUPTA, SR , GUPTA, R , (2014) HAJDU-CHENEY SYNDROME WITH OSTEOMYELITIS OF MANDIBLE, CALCIFICATION OF FALX CEREBRI AND PALATAL GROOVE.CLEFT PALATE-CRANIOFACIAL JOURNAL. VOL. 51. ISSUE 6. P. 722 -728 22 85% 0
3 CANALIS, E , ZANOTTI, S , (2014) HAJDU-CHENEY SYNDROME: A REVIEW.ORPHANET JOURNAL OF RARE DISEASES. VOL. 9. ISSUE . P. - 34 47% 5
4 BRENNAN, AM , PAULI, RM , (2001) HAJDU-CHENEY SYNDROME: EVOLUTION OF PHENOTYPE AND CLINICAL PROBLEMS.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 100. ISSUE 4. P. 292 -310 21 100% 51
5 NARUMI, Y , MIN, BJ , SHIMIZU, K , KAZUKAWA, I , SAMESHIMA, K , NAKAMURA, K , KOSHO, T , RHEE, Y , CHUNG, YS , KIM, OH , ET AL (2013) CLINICAL CONSEQUENCES IN TRUNCATING MUTATIONS IN EXON 34 OF NOTCH2: REPORT OF SIX PATIENTS WITH HAJDUCHENEY SYNDROME AND A PATIENT WITH SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161A. ISSUE 3. P. 518-526 16 94% 7
6 CANALIS, E , ZANOTTI, S , (2016) HAJDU-CHENEY SYNDROME, A DISEASE ASSOCIATED WITH NOTCH2 MUTATIONS.CURRENT OSTEOPOROSIS REPORTS. VOL. 14. ISSUE 4. P. 126 -131 26 41% 0
7 RAMOS, FJ , KAPLAN, BS , BELLAH, RD , ZACKAI, EH , KAPLAN, P , (1998) FURTHER EVIDENCE THAT THE HAJDU-CHENEY SYNDROME AND THE "SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME" ARE A SINGLE ENTITY.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 78. ISSUE 5. P. 474 -481 18 95% 19
8 ADAMI, G , ROSSINI, M , GATTI, D , ORSOLINI, G , IDOLAZZI, L , VIAPIANA, O , SCARPA, A , CANALIS, E , (2016) HAJDU CHENEY SYNDROME; REPORT OF A NOVEL NOTCH2 MUTATION AND TREATMENT WITH DENOSUMAB.BONE. VOL. 92. ISSUE . P. 150 -156 17 63% 0
9 ZANOTTI, S , CANALIS, E , (2016) NOTCH SIGNALING AND THE SKELETON.ENDOCRINE REVIEWS. VOL. 37. ISSUE 3. P. 223 -253 55 19% 0
10 BATTELINO, N , WRITZL, K , BRATANIC, N , IRVING, MD , NOVLJAN, G , (2016) END-STAGE RENAL DISEASE IN AN INFANT WITH HAJDU-CHENEY SYNDROME.THERAPEUTIC APHERESIS AND DIALYSIS. VOL. 20. ISSUE 3. P. 318 -321 11 85% 0

Classes with closest relation at Level 1


Rank Class id link
1 27465 JUVENILE HYALINE FIBROMATOSIS//INFANTILE SYSTEMIC HYALINOSIS//HYALINE FIBROMATOSIS SYNDROME
2 35239 BONES METABOLIC ABNORMALITIES//PARATHYROID SECONDARY HYPERPARATHYROIDISM//REUMATOL E BRUZZONE
3 20402 ALAGILLE SYNDROME//ARTERIOHEPATIC DYSPLASIA//PAUCITY OF INTERLOBULAR BILE DUCTS
4 3243 NOTCH1//NOTCH//GAMMA SECRETASE INHIBITOR
5 37542 HYPEROSTOSIS FRONTALIS INTERNA//HYPEROSTOSIS CRANII//MORGAGNI STEWART MOREL SYNDROME
6 3238 NOTCH//NEUROGENIC GENES//SUPPRESSOR OF HAIRLESS
7 8983 SOX9//CHONDROCYTE DIFFERENTIATION//IHH
8 17609 FILAMIN A//FILAMIN//FLNA
9 30234 MEGALOCORNEA//NEUHAUSER SYNDROME//ANTERIOR MEGALOPHTHALMOS
10 11708 DLL4//VASC PATTERNING//DELTA LIKE LIGAND 4

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