Class information for:
Level 1: ALSTROM SYNDROME//ALMS1//ALMS1 GENE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
32237 142 28.1 74%


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
642 3       POLYCYSTIC KIDNEY DISEASE//AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE//HEDGEHOG 12305
1658 2             HEDGEHOG//GLI//CILIOPATHY 6876
32237 1                   ALSTROM SYNDROME//ALMS1//ALMS1 GENE 142

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 ALSTROM SYNDROME authKW 9358991 38% 81% 54
2 ALMS1 authKW 4003027 15% 85% 22
3 ALMS1 GENE authKW 483836 2% 75% 3
4 ALSTROM authKW 286717 1% 67% 2
5 ALSTROM DISEASE authKW 215039 1% 100% 1
6 ALSTROM SYNDROME HYPERINSULINEMIA DISLIPEMIA CHILDREN authKW 215039 1% 100% 1
7 AUSBILDUNGSZENTRUM address 215039 1% 100% 1
8 AUTOSOMAL RECESSIVE DILATED CARDIOMYOPATHY authKW 215039 1% 100% 1
9 CIENCIAS BIOLHOSP MIL DR CARLOS ARVELO M address 215039 1% 100% 1
10 CLIN PEDIAT COMPARTIMENTAL DIABET NUTR BOLI METAB address 215039 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 1131 37% 0% 53
2 Endocrinology & Metabolism 203 15% 0% 22
3 Ophthalmology 145 9% 0% 13
4 Pediatrics 113 11% 0% 15
5 Medicine, General & Internal 55 11% 0% 15
6 Cardiac & Cardiovascular System 24 6% 0% 9
7 Medicine, Research & Experimental 20 6% 0% 8
8 Otorhinolaryngology 19 3% 0% 4
9 Medical Ethics 17 1% 0% 1
10 Neuroimaging 15 1% 0% 2

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 AUSBILDUNGSZENTRUM 215039 1% 100% 1
2 CIENCIAS BIOLHOSP MIL DR CARLOS ARVELO M 215039 1% 100% 1
3 CLIN PEDIAT COMPARTIMENTAL DIABET NUTR BOLI METAB 215039 1% 100% 1
4 ENFERMEDADES METABOL ENDOCRINOL MED EX 215039 1% 100% 1
5 GENET COORDIANTOR ALSTROM SYDROME STUDIES 215039 1% 100% 1
6 HABIB BOURGUIBA TEACHING HOSP 215039 1% 100% 1
7 HEDI CHAKER TEACHING HOSP 215039 1% 100% 1
8 HIGH THROUGHPUT SEQUENCING ILGENET OURCES 215039 1% 100% 1
9 HOSP LOBREGAT 215039 1% 100% 1
10 IGMAUMR S INSERM U1112 215039 1% 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 ORPHANET JOURNAL OF RARE DISEASES 4833 4% 0% 5
2 EUROPEAN JOURNAL OF MEDICAL GENETICS 3021 3% 0% 4
3 REVISTA BRASILEIRA DE MEDICINA 2192 1% 1% 1
4 EUROPEAN JOURNAL OF HUMAN GENETICS 1467 4% 0% 5
5 FUTURE LIPIDOLOGY 1368 1% 1% 1
6 REVISTA DE NEFROLOGIA DIALISIS Y TRASPLANTE 1148 1% 1% 1
7 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 926 4% 0% 5
8 PEDIATRIC DIABETES 804 1% 0% 2
9 RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS 761 1% 0% 2
10 TRANSLATIONAL BEHAVIORAL MEDICINE 634 1% 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 ALSTROM SYNDROME 9358991 38% 81% 54 Search ALSTROM+SYNDROME Search ALSTROM+SYNDROME
2 ALMS1 4003027 15% 85% 22 Search ALMS1 Search ALMS1
3 ALMS1 GENE 483836 2% 75% 3 Search ALMS1+GENE Search ALMS1+GENE
4 ALSTROM 286717 1% 67% 2 Search ALSTROM Search ALSTROM
5 ALSTROM DISEASE 215039 1% 100% 1 Search ALSTROM+DISEASE Search ALSTROM+DISEASE
6 ALSTROM SYNDROME HYPERINSULINEMIA DISLIPEMIA CHILDREN 215039 1% 100% 1 Search ALSTROM+SYNDROME+HYPERINSULINEMIA+DISLIPEMIA+CHILDREN Search ALSTROM+SYNDROME+HYPERINSULINEMIA+DISLIPEMIA+CHILDREN
7 AUTOSOMAL RECESSIVE DILATED CARDIOMYOPATHY 215039 1% 100% 1 Search AUTOSOMAL+RECESSIVE+DILATED+CARDIOMYOPATHY Search AUTOSOMAL+RECESSIVE+DILATED+CARDIOMYOPATHY
8 HIGH RISK OBESITY 215039 1% 100% 1 Search HIGH+RISK+OBESITY Search HIGH+RISK+OBESITY
9 INCREASED VASCULAR RISK 215039 1% 100% 1 Search INCREASED+VASCULAR+RISK Search INCREASED+VASCULAR+RISK
10 MAJOR ORGAN FIBROSIS 215039 1% 100% 1 Search MAJOR+ORGAN+FIBROSIS Search MAJOR+ORGAN+FIBROSIS

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 MARSHALL, JD , MAFFEI, P , COLLIN, GB , NAGGERT, JK , (2011) ALSTROM SYNDROME: GENETICS AND CLINICAL OVERVIEW.CURRENT GENOMICS. VOL. 12. ISSUE 3. P. 225 -235 49 80% 39
2 PAISEY, RB , LEESON-BEEVERS, K , (2016) CURRENT MANAGEMENT OF ALSTROM SYNDROME AND RECENT ADVANCES IN TREATMENT.EXPERT OPINION ON ORPHAN DRUGS. VOL. 4. ISSUE 7. P. 747 -759 50 76% 0
3 MARSHALL, JD , MULLER, J , COLLIN, GB , MILAN, G , KINGSMORE, SF , DINWIDDIE, D , FARROW, EG , MILLER, NA , FAVARETTO, F , MAFFEI, P , ET AL (2015) ALSTROM SYNDROME: MUTATION SPECTRUM OF ALMS1.HUMAN MUTATION. VOL. 36. ISSUE 7. P. 660 -668 39 66% 9
4 JOY, T , CAO, H , BLACK, G , MALIK, R , CHARLTON-MENYS, V , HEGELE, RA , DURRINGTON, PN , (2007) ALSTROM SYNDROME (OMIM 203800): A CASE REPORT AND LITERATURE REVIEW.ORPHANET JOURNAL OF RARE DISEASES. VOL. 2. ISSUE . P. - 27 93% 17
5 OZANTURK, A , MARSHALL, JD , COLLIN, GB , DUZENLI, S , MARSHALL, RP , CANDAN, S , TOS, T , ESEN, I , TASKESEN, M , CAYIR, A , ET AL (2015) THE PHENOTYPIC AND MOLECULAR GENETIC SPECTRUM OF ALSTROM SYNDROME IN 44 TURKISH KINDREDS AND A LITERATURE REVIEW OF ALSTROM SYNDROME IN TURKEY.JOURNAL OF HUMAN GENETICS. VOL. 60. ISSUE 1. P. 1 -9 22 85% 1
6 CHAKROUN, A , BEN SAID, M , ENNOURI, A , ACHOUR, I , MNIF, M , ABID, M , GHORBEL, A , MARSHALL, JD , NAGGERT, JK , MASMOUDI, S , (2016) LONG-TERM CLINICAL FOLLOW-UP AND MOLECULAR TESTING FOR DIAGNOSIS OF THE FIRST TUNISIAN FAMILY WITH ALSTROM SYNDROME.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 59. ISSUE 9. P. 444 -451 21 84% 0
7 GIRARD, D , PETROVSKY, N , (2011) ALSTROM SYNDROME: INSIGHTS INTO THE PATHOGENESIS OF METABOLIC DISORDERS.NATURE REVIEWS ENDOCRINOLOGY. VOL. 7. ISSUE 2. P. 77-88 42 39% 25
8 MARSHALL, JD , BECK, S , MAFFEI, P , NAGGERT, JK , (2007) ALSTROM SYNDROME.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 15. ISSUE 12. P. 1193-1202 17 89% 53
9 PAISEY, RB , GEBERHIWOT, T , WATERSON, M , CRAMB, R , STEEDS, R , WILLIAMS, K , WHITE, A , HARDY, C , (2014) MODIFICATION OF SEVERE INSULIN RESISTANT DIABETES IN RESPONSE TO LIFESTYLE CHANGES IN ALSTROM SYNDROME.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 57. ISSUE 2-3. P. 71-75 18 62% 4
10 MARSHALL, JD , BRONSON, RT , COLLIN, GB , NORDSTROM, AD , MAFFEI, P , PAISEY, RB , CAREY, C , MACDERMOTT, S , RUSSELL-EGGITT, I , SHEA, SE , ET AL (2005) NEW ALSTROM SYNDROME PHENOTYPES BASED ON THE EVALUATION OF 182 CASES.ARCHIVES OF INTERNAL MEDICINE. VOL. 165. ISSUE 6. P. 675 -683 13 93% 117

Classes with closest relation at Level 1


Rank Class id link
1 1635 JOUBERT SYNDROME//CILIOPATHY//BARDET BIEDL SYNDROME
2 30188 TUBBY//TULP1//ORF PHAGE DISPLAY
3 20771 WOLFRAM SYNDROME//WFS1//DIDMOAD
4 37024 RAB23//CARPENTER SYNDROME//ACROCEPHALOPOLYSYNDACTYLY TYPE II
5 21471 CHRONIC VOLUME LOAD//MICROCEPHALY CARDIOMYOPATHY SYNDROME//HEART DEV STRUCT DIS BRANCH
6 26340 COHEN SYNDROME//CHORIORETINAL DYSPLASIA//COH1
7 20006 RETINOSCHISIS//X LINKED RETINOSCHISIS//X LINKED JUVENILE RETINOSCHISIS
8 29792 WIEDEMANN RAUTENSTRAUCH SYNDROME//HALLERMANN STREIFF SYNDROME//OCULODENTODIGITAL DYSPLASIA
9 25780 AQUICOLA RIO AVE//BIOASSAY MODEL SYSTEM//FISH SAC FRY
10 26037 NUTRITIONAL EPIDEMIOLOGIC SURVEY//TEAM HLTH BENEFIT FRUIT//ANTIOXIDANT ASSESSMENT

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