Class information for:
Level 1: BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
24336 315 27.7 78%


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
196 3       GENETICS & HEREDITY//FRAGILE X SYNDROME//AMERICAN JOURNAL OF MEDICAL GENETICS 53756
395 2             GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY 16816
24336 1                   BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME 315

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 BLEPHAROPHIMOSIS authKW 1810424 14% 43% 43
2 BPES authKW 1646076 10% 57% 30
3 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME authKW 1092155 4% 87% 13
4 FOXL2 authKW 1072336 14% 25% 44
5 EPICANTHUS INVERSUS authKW 837809 3% 79% 11
6 OHDO SYNDROME authKW 646241 3% 67% 10
7 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME BPES authKW 581623 2% 100% 6
8 BLEPHAROPHIMOSIS SYNDROME authKW 563993 3% 73% 8
9 YOUNG SIMPSON SYNDROME authKW 527766 2% 78% 7
10 3Q DELETION authKW 310197 1% 80% 4

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 5930 57% 0% 178
2 Ophthalmology 1173 17% 0% 53
3 Endocrinology & Metabolism 128 9% 0% 28
4 Reproductive Biology 99 4% 0% 12
5 Pediatrics 77 6% 0% 20
6 Medical Ethics 70 1% 0% 3
7 Obstetrics & Gynecology 38 4% 0% 13
8 Biochemistry & Molecular Biology 35 13% 0% 42
9 Developmental Biology 18 2% 0% 6
10 Cell Biology 10 5% 0% 16

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 EQUIPE GENET GENOM DEV GONAD 221567 1% 57% 4
2 ORBIT CLIN 193874 1% 100% 2
3 FERTIL REPROD MED 119302 1% 31% 4
4 ABORATING COMMUNITY CONTROL INHERITED DIS 96937 0% 100% 1
5 CLIN CHAMPS MARS 96937 0% 100% 1
6 CLIN GENET CHULCHUQ 96937 0% 100% 1
7 CONSULTORIO GIOVANI 96937 0% 100% 1
8 G VENKATASWAMY EYE 96937 0% 100% 1
9 GDPM E21 96937 0% 100% 1
10 GENET DEVU657 96937 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 JOURNAL OF MEDICAL GENETICS 11321 8% 0% 26
2 CLINICAL DYSMORPHOLOGY 7031 3% 1% 9
3 AMERICAN JOURNAL OF MEDICAL GENETICS 5845 7% 0% 23
4 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 4843 5% 0% 17
5 OPHTHALMIC GENETICS 4049 2% 1% 5
6 HUMAN MOLECULAR GENETICS 3204 6% 0% 18
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 3060 2% 1% 6
8 CLINICAL GENETICS 1892 3% 0% 10
9 JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS 1448 2% 0% 5
10 MOLECULAR VISION 1052 2% 0% 6

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 BLEPHAROPHIMOSIS 1810424 14% 43% 43 Search BLEPHAROPHIMOSIS Search BLEPHAROPHIMOSIS
2 BPES 1646076 10% 57% 30 Search BPES Search BPES
3 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME 1092155 4% 87% 13 Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME
4 FOXL2 1072336 14% 25% 44 Search FOXL2 Search FOXL2
5 EPICANTHUS INVERSUS 837809 3% 79% 11 Search EPICANTHUS+INVERSUS Search EPICANTHUS+INVERSUS
6 OHDO SYNDROME 646241 3% 67% 10 Search OHDO+SYNDROME Search OHDO+SYNDROME
7 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME BPES 581623 2% 100% 6 Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME+BPES Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME+BPES
8 BLEPHAROPHIMOSIS SYNDROME 563993 3% 73% 8 Search BLEPHAROPHIMOSIS+SYNDROME Search BLEPHAROPHIMOSIS+SYNDROME
9 YOUNG SIMPSON SYNDROME 527766 2% 78% 7 Search YOUNG+SIMPSON+SYNDROME Search YOUNG+SIMPSON+SYNDROME
10 3Q DELETION 310197 1% 80% 4 Search 3Q+DELETION Search 3Q+DELETION

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 NUOVO, S , PASSERI, M , DI BENEDETTO, E , CALANCHINI, M , MELDOLESI, I , DI GIACOMO, MC , PETRUZZI, D , PIEMONTESE, MR , ZELANTE, L , SANGIUOLO, F , ET AL (2016) CHARACTERIZATION OF ENDOCRINE FEATURES AND GENOTYPE-PHENOTYPES CORRELATIONS IN BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME TYPE 1.JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. VOL. 39. ISSUE 2. P. 227 -233 23 92% 1
2 CHAWLA, B , BHADANGE, Y , DADA, R , KUMAR, M , SHARMA, S , BAJAJ, MS , PUSHKER, N , CHANDRA, M , GHOSE, S , (2013) CLINICAL, RADIOLOGIC, AND GENETIC FEATURES IN BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME IN THE INDIAN POPULATION.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. VOL. 54. ISSUE 4. P. 2985-2990 26 87% 2
3 RAMIERI, V , TARANI, L , COSTANTINO, F , BASILE, E , LIBERATI, N , RINNA, C , CASCONE, P , COLLORIDI, F , (2011) MICRODELETION 3Q SYNDROME.JOURNAL OF CRANIOFACIAL SURGERY. VOL. 22. ISSUE 6. P. 2124-2128 23 92% 2
4 XUE, M , ZHENG, J , ZHOU, Q , HEJTMANCIK, JF , WANG, Y , LI, SL , (2015) NOVEL FOXL2 MUTATIONS IN TWO CHINESE FAMILIES WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME.BMC MEDICAL GENETICS. VOL. 16. ISSUE . P. - 21 88% 1
5 ZHANG, L , WANG, LM , HAN, RF , GUAN, LF , FAN, BH , LIU, MM , YING, M , PENG, H , LI, ND , (2013) IDENTIFICATION OF THE FORKHEAD TRANSCRIPTIONAL FACTOR 2 (FOXL2) GENE MUTATIONS IN FOUR CHINESE FAMILIES WITH BLEPHAROPHIMOSIS SYNDROME.MOLECULAR VISION. VOL. 19. ISSUE . P. 2298-2305 21 91% 1
6 DE BAERE, E , FELLOUS, M , VEITIA, RA , (2009) THE TRANSCRIPTION FACTOR FOXL2 IN OVARIAN FUNCTION AND DYSFUNCTION.FOLIA HISTOCHEMICA ET CYTOBIOLOGICA. VOL. 47. ISSUE 5. P. S43-S49 31 66% 8
7 CHOUCHENE, I , DEROUICHE, K , CHAABOUNI, A , CHERIF, L , AMOURI, A , LARGUECHE, L , ABDELHAK, S , EL MATRI, L , (2010) IDENTIFICATION OF A NOVEL MUTATION IN FOXL2 GENE THAT LEADS TO BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS AND TELECANTHUS SYNDROME IN A TUNISIAN CONSANGUINEOUS FAMILY.GENETIC TESTING AND MOLECULAR BIOMARKERS. VOL. 14. ISSUE 1. P. 145 -148 23 88% 0
8 BEYSEN, D , DE PAEPE, A , DE BAERE, E , (2009) FOXL2 MUTATIONS AND GENOMIC REARRANGEMENTS IN BPES.HUMAN MUTATION. VOL. 30. ISSUE 2. P. 158-169 38 48% 51
9 DE RU, MH , GILLE, JJP , NIEUWINT, AWM , BIJLSMA, JB , VAN DER BLIJ, JF , VAN HAGEN, JM , (2005) INTERSTITIAL DELETION IN 3Q IN A PATIENT WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES) AND MICROCEPHALY, MILD MENTAL RETARDATION, AND GROWTH DELAY: CLINICAL REPORT AND REVIEW OF THE LITERATURE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 137A. ISSUE 1. P. 81 -87 24 86% 20
10 XU, Y , LEI, H , DONG, H , ZHANG, LP , QIN, QL , GAO, JM , ZOU, YL , YAN, XM , (2009) FOXL2 GENE MUTATIONS AND BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES): A NOVEL MUTATION DETECTED IN A CHINESE FAMILY AND A STATISTIC MODEL FOR SUMMARIZING PREVIOUS REPORTED RECORDS.MUTAGENESIS. VOL. 24. ISSUE 5. P. 447 -453 25 76% 2

Classes with closest relation at Level 1


Rank Class id link
1 9850 BLEPHAROPTOSIS//FRONTALIS SUSPENSION//CONGENITAL PTOSIS
2 10084 PREMATURE OVARIAN FAILURE//PRIMARY OVARIAN INSUFFICIENCY//PREMATURE MENOPAUSE
3 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME
4 25553 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
5 5883 GRANULOSA CELL TUMOR//SEX CORD STROMAL TUMOR//SERTOLI LEYDIG CELL TUMOR
6 36128 TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME
7 32581 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
8 24494 OCULOPHARYNGEAL MUSCULAR DYSTROPHY//PABPN1//OPMD
9 4198 SRY//SEX DETERMINATION//SEX REVERSAL
10 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS

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