Class information for:
Level 1: FRASER SYNDROME//CRYPTOPHTHALMOS//FRAS1

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
24795 301 23.8 60%



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
1564 2             DISTRACTION OSTEOGENESIS//HEMIFACIAL MICROSOMIA//PIERRE ROBIN SEQUENCE 7357
24795 1                   FRASER SYNDROME//CRYPTOPHTHALMOS//FRAS1 301

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 FRASER SYNDROME authKW 4199496 16% 84% 49
2 CRYPTOPHTHALMOS authKW 2348282 8% 93% 25
3 FRAS1 authKW 1268069 5% 83% 15
4 ABLEPHARON MACROSTOMIA SYNDROME authKW 608676 2% 100% 6
5 BARBER SAY SYNDROME authKW 608676 2% 100% 6
6 FREM authKW 521720 2% 86% 6
7 CRYPTOPHTHALMOS SYNDROME authKW 507230 2% 100% 5
8 EYELID DEVELOPMENT authKW 422690 2% 83% 5
9 FREM1 authKW 422690 2% 83% 5
10 MOTA SYNDROME authKW 405784 1% 100% 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 Ophthalmology 2323 24% 0% 72
2 Genetics & Heredity 2251 36% 0% 109
3 Developmental Biology 1331 14% 0% 41
4 Anatomy & Morphology 371 5% 0% 15
5 Medical Ethics 307 2% 0% 6
6 Pediatrics 139 8% 0% 25
7 Surgery 59 10% 0% 29
8 Cell Biology 41 8% 0% 24
9 Obstetrics & Gynecology 33 4% 0% 12
10 Pathology 14 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 CHATTONOOGA UNIT 101446 0% 100% 1
2 CHEM GENOM DRUG DISCOVERY 101446 0% 100% 1
3 COSMET UNIT 101446 0% 100% 1
4 DEAN GENET PERINATOL CLIN 101446 0% 100% 1
5 GCV CIBERER HOSP CLIN UNIV LOZANO BLESA 101446 0% 100% 1
6 GREEN TECHNOL ANIM PLANT GENOM BREEDING 101446 0% 100% 1
7 HYSTOL EMBRIOL GENET UNIT 101446 0% 100% 1
8 OCULOPLASTY PEDIAT OPHTHALMOL 101446 0% 100% 1
9 PEDIATRICIAN SYSTEMAT 101446 0% 100% 1
10 SERV OPHTHALMOL PEDIAT 101446 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 OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY 10093 6% 1% 17
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 5069 6% 0% 17
3 NAN NU-MEN WOMEN AND GENDER IN CHINA 4225 0% 4% 1
4 AMERICAN JOURNAL OF MEDICAL GENETICS 4169 6% 0% 19
5 GENETIC COUNSELING 3869 2% 1% 6
6 OCULAR SURFACE 3547 1% 1% 3
7 TERATOLOGY 3348 3% 0% 8
8 JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY 2657 1% 1% 4
9 CLINICAL DYSMORPHOLOGY 2267 2% 0% 5
10 LABORATORY ANIMAL SCIENCE 1107 2% 0% 5

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 FRASER SYNDROME 4199496 16% 84% 49 Search FRASER+SYNDROME Search FRASER+SYNDROME
2 CRYPTOPHTHALMOS 2348282 8% 93% 25 Search CRYPTOPHTHALMOS Search CRYPTOPHTHALMOS
3 FRAS1 1268069 5% 83% 15 Search FRAS1 Search FRAS1
4 ABLEPHARON MACROSTOMIA SYNDROME 608676 2% 100% 6 Search ABLEPHARON+MACROSTOMIA+SYNDROME Search ABLEPHARON+MACROSTOMIA+SYNDROME
5 BARBER SAY SYNDROME 608676 2% 100% 6 Search BARBER+SAY+SYNDROME Search BARBER+SAY+SYNDROME
6 FREM 521720 2% 86% 6 Search FREM Search FREM
7 CRYPTOPHTHALMOS SYNDROME 507230 2% 100% 5 Search CRYPTOPHTHALMOS+SYNDROME Search CRYPTOPHTHALMOS+SYNDROME
8 EYELID DEVELOPMENT 422690 2% 83% 5 Search EYELID+DEVELOPMENT Search EYELID+DEVELOPMENT
9 FREM1 422690 2% 83% 5 Search FREM1 Search FREM1
10 MOTA SYNDROME 405784 1% 100% 4 Search MOTA+SYNDROME Search MOTA+SYNDROME

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 TAWFIK, HA , ABDULHAFEZ, MH , FOUAD, YA , (2015) CONGENITAL UPPER EYELID COLOBOMA: EMBRYOLOGIC, NOMENCLATORIAL, NOSOLOGIC, ETIOLOGIC, PATHOGENETIC, EPIDEMIOLOGIC, CLINICAL, AND MANAGEMENT PERSPECTIVES.OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY. VOL. 31. ISSUE 1. P. 1 -12 56 52% 2
2 SLAVOTINEK, AM , TIFFT, CJ , (2002) FRASER SYNDROME AND CRYPTOPHTHALMOS: REVIEW OF THE DIAGNOSTIC CRITERIA AND EVIDENCE FOR PHENOTYPIC MODULES IN COMPLEX MALFORMATION SYNDROMES.JOURNAL OF MEDICAL GENETICS. VOL. 39. ISSUE 9. P. 623-633 49 75% 92
3 TESSIER, A , SARREAU, M , PELLUARD, F , ANDRE, G , BLESSON, S , BUCOURT, M , DECHELOTTE, P , FAIVRE, L , FREBOURG, T , GOLDENBERG, A , ET AL (2016) FRASER SYNDROME: FEATURES SUGGESTIVE OF PRENATAL DIAGNOSIS IN A REVIEW OF 38 CASES.PRENATAL DIAGNOSIS. VOL. 36. ISSUE 13. P. 1270 -1275 30 94% 0
4 DE MARIA, B , MAZZANTI, L , ROCHE, N , HENNEKAM, RC , (2016) BARBER-SAY SYNDROME AND ABLEPHARON-MACROSTOMIA SYNDROME: AN OVERVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 170. ISSUE 8. P. 1989 -2001 27 84% 0
5 ALAZAMI, AM , SHAHEEN, R , ALZAHRANI, F , SNAPE, K , SAGGAR, A , BRINKMANN, B , BAVI, P , AL-GAZALI, LI , ALKURAYA, FS , (2009) FREM1 MUTATIONS CAUSE BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS SYNDROME.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 85. ISSUE 3. P. 414-418 20 100% 38
6 OGUR, G , ZENKER, M , TOSUN, M , EKICI, F , SCHANZE, D , OZYILMAZ, B , MALATYALIOGLU, E , (2011) CLINICAL AND MOLECULAR STUDIES IN TWO FAMILIES WITH FRASER SYNDROME: A NEW FRAS1 GENE MUTATION, PRENATAL ULTRASOUND FINDINGS AND IMPLICATIONS FOR GENETIC COUNSELLING.GENETIC COUNSELING. VOL. 22. ISSUE 3. P. 233 -244 19 100% 3
7 BARISIC, I , ODAK, L , LOANE, M , GARNE, E , WELLESLEY, D , CALZOLARI, E , DOLK, H , ADDOR, MC , ARRIOLA, L , BERGMAN, J , ET AL (2013) FRASER SYNDROME: EPIDEMIOLOGICAL STUDY IN A EUROPEAN POPULATION.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161A. ISSUE 5. P. 1012-1018 19 83% 10
8 CAVALCANTI, DP , MATEJAS, V , LUQUETTI, D , MELLO, MF , ZENKER, M , (2007) FRASER AND ABLEPHARON MACROSTOMIA PHENOTYPES: CONCURRENCE IN ONE FAMILY AND ASSOCIATION WITH MUTATED FRAS1.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 143A. ISSUE 3. P. 241-247 20 91% 15
9 SAG, SO , GORUKMEZ, O , TURE, M , SAHINTURK, S , TOPAK, A , GULTEN, T , SCHANZE, D , YAKUT, T , ZENKER, M , (2015) A NOVEL MUTATION IN THE FRAS1 GENE IN A PATIENT WITH FRASER SYNDROME.GENETIC COUNSELING. VOL. 26. ISSUE 1. P. 21 -27 15 100% 0
10 SCHANZE, D , HARAKALOVA, M , STEVENS, CA , BRANCATI, F , DALLAPICCOLA, B , FARNDON, P , FERRAZ, VEF , MCDONALD-MCGINN, DM , ZACKAI, EH , WRIGHT, M , ET AL (2013) ABLEPHARON MACROSTOMIA SYNDROME: A DISTINCT GENETIC ENTITY CLINICALLY RELATED TO THE GROUP OF FRAS-FREM COMPLEX DISORDERS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161. ISSUE 12. P. 3012-3017 21 70% 2

Classes with closest relation at Level 1



Rank Class id link
1 15793 FRONTONASAL DYSPLASIA//MACROSTOMIA//PROBOSCIS LATERALIS
2 35559 NEPHRONECTIN//ALPHA 8 INTEGRIN//ANGIO ASSOCIATED MIGRATORY CELL PROTEIN
3 17377 TRACHEAL AGENESIS//LARYNGEAL ATRESIA//VACTERL ASSOCIATION
4 16610 GOLDENHAR SYNDROME//HEMIFACIAL MICROSOMIA//OCULOAURICULOVERTEBRAL SPECTRUM
5 11973 EYELID RECONSTRUCTION//INVOLUTIONAL ENTROPION//ENTROPION
6 30859 GRHL2//GRAINYHEAD//LATE SV40 FACTOR
7 13517 NEURULATION//POSTERIOR NEUROPORE//CURLY TAIL
8 24336 BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME
9 21083 TREACHER COLLINS SYNDROME//MANDIBULOFACIAL DYSOSTOSIS//ACROFACIAL DYSOSTOSIS
10 36836 DISTANT RECOGNITION//ANTIPROGESTERONE ANTIBODIES//ARVICOLA TERRESTRIS WATER VOLE

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