Class information for:
Level 1: ELLIS VAN CREVELD SYNDROME//JEUNE SYNDROME//ORAL FACIAL DIGITAL SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
15893 685 19.3 54%


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
15893 1                   ELLIS VAN CREVELD SYNDROME//JEUNE SYNDROME//ORAL FACIAL DIGITAL SYNDROME 685

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 ELLIS VAN CREVELD SYNDROME authKW 2143066 7% 96% 50
2 JEUNE SYNDROME authKW 1210688 6% 70% 39
3 ORAL FACIAL DIGITAL SYNDROME authKW 773871 4% 69% 25
4 SHORT RIB POLYDACTYLY SYNDROME authKW 731444 3% 86% 19
5 ASPHYXIATING THORACIC DYSTROPHY authKW 643666 3% 76% 19
6 CHONDROECTODERMAL DYSPLASIA authKW 626846 2% 94% 15
7 MECKEL GRUBER SYNDROME authKW 567737 3% 58% 22
8 EVC2 authKW 513928 2% 82% 14
9 MOHR SYNDROME authKW 502218 2% 87% 13
10 ASPHYXIATING THORACIC DYSPLASIA authKW 316982 1% 89% 8

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 7668 44% 0% 301
2 Pediatrics 2944 23% 0% 158
3 Obstetrics & Gynecology 865 11% 0% 78
4 Medical Ethics 450 2% 0% 11
5 Acoustics 295 4% 0% 29
6 Pathology 288 6% 0% 44
7 Radiology, Nuclear Medicine & Medical Imaging 214 8% 0% 55
8 Dentistry, Oral Surgery & Medicine 138 4% 0% 28
9 Surgery 80 8% 0% 55
10 Urology & Nephrology 48 3% 0% 22

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 UNITE EMBRYOFOETOPATHOL 89152 0% 100% 2
2 UNITE CYTOGENET GENET MED 80234 0% 60% 3
3 A GEMELLI MED IST CLIN OCULIST 44576 0% 100% 1
4 A GEMELLI MED IST GENET UMANA LARGO F VITO 1 44576 0% 100% 1
5 ABT PAIDOPATHOL PLACENTOL PATHOL 44576 0% 100% 1
6 ABT RONTGENDIAGNOST NEURORADIOL 3 44576 0% 100% 1
7 AMBULATORIO GENET PERINATAL 44576 0% 100% 1
8 AREA DIAGNOST PRENATAL 44576 0% 100% 1
9 CRANIOORAL MAXILLO IAL SURG 44576 0% 100% 1
10 ENDODONTHOSP STOMATOL 44576 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 48986 14% 1% 98
2 CLINICAL DYSMORPHOLOGY 17605 3% 2% 21
3 JOURNAL OF MEDICAL GENETICS 13563 6% 1% 42
4 GENETIC COUNSELING 5710 2% 1% 11
5 CLINICAL GENETICS 5445 4% 0% 25
6 PRENATAL DIAGNOSIS 3832 3% 0% 22
7 JOURNAL DE GENETIQUE HUMAINE 3827 1% 2% 4
8 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2209 2% 0% 17
9 PEDIATRIC AND DEVELOPMENTAL PATHOLOGY 2157 1% 1% 8
10 FETAL AND PEDIATRIC PATHOLOGY 1956 1% 1% 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 ELLIS VAN CREVELD SYNDROME 2143066 7% 96% 50 Search ELLIS+VAN+CREVELD+SYNDROME Search ELLIS+VAN+CREVELD+SYNDROME
2 JEUNE SYNDROME 1210688 6% 70% 39 Search JEUNE+SYNDROME Search JEUNE+SYNDROME
3 ORAL FACIAL DIGITAL SYNDROME 773871 4% 69% 25 Search ORAL+FACIAL+DIGITAL+SYNDROME Search ORAL+FACIAL+DIGITAL+SYNDROME
4 SHORT RIB POLYDACTYLY SYNDROME 731444 3% 86% 19 Search SHORT+RIB+POLYDACTYLY+SYNDROME Search SHORT+RIB+POLYDACTYLY+SYNDROME
5 ASPHYXIATING THORACIC DYSTROPHY 643666 3% 76% 19 Search ASPHYXIATING+THORACIC+DYSTROPHY Search ASPHYXIATING+THORACIC+DYSTROPHY
6 CHONDROECTODERMAL DYSPLASIA 626846 2% 94% 15 Search CHONDROECTODERMAL+DYSPLASIA Search CHONDROECTODERMAL+DYSPLASIA
7 MECKEL GRUBER SYNDROME 567737 3% 58% 22 Search MECKEL+GRUBER+SYNDROME Search MECKEL+GRUBER+SYNDROME
8 EVC2 513928 2% 82% 14 Search EVC2 Search EVC2
9 MOHR SYNDROME 502218 2% 87% 13 Search MOHR+SYNDROME Search MOHR+SYNDROME
10 ASPHYXIATING THORACIC DYSPLASIA 316982 1% 89% 8 Search ASPHYXIATING+THORACIC+DYSPLASIA Search ASPHYXIATING+THORACIC+DYSPLASIA

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 GURRIERI, F , FRANCO, B , TORIELLO, H , NERI, G , (2007) RESEARCH REVIEW ORAL-FACIAL-DIGITAL SYNDROMES: REVIEW AND DIAGNOSTIC GUIDELINES.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 143A. ISSUE 24. P. 3314-3323 43 81% 50
2 KEPPLER-NOREUIL, KM , ADAM, MP , WELCH, J , MUILENBURG, A , WILLING, MC , (2011) CLINICAL INSIGHTS GAINED FROM EIGHT NEW CASES AND REVIEW OF REPORTED CASES WITH JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY).AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 155A. ISSUE 5. P. 1021-1032 33 75% 12
3 SUKAROVA-ANGELOVSKA, E , ANGELKOVA, N , PALCEVSKA-KOCEVSKA, S , KOCOVA, M , (2012) THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME.BALKAN JOURNAL OF MEDICAL GENETICS. VOL. 15. ISSUE 1. P. 37-44 26 87% 2
4 SHI, LS , LUO, CY , AHMED, MK , ATTAIE, AB , YE, XQ , (2016) NOVEL MUTATIONS IN EVC CAUSE ABERRANT SPLICING IN ELLIS-VAN CREVELD SYNDROME.MOLECULAR GENETICS AND GENOMICS. VOL. 291. ISSUE 2. P. 863 -872 23 88% 0
5 DIGILIO, MC , MARINO, B , AMMIRATI, A , BORZAGA, U , GIANNOTTI, A , DALLAPICCOLA, B , (1999) CARDIAC MALFORMATIONS IN PATIENTS WITH ORAL-FACIAL-SKELETAL SYNDROMES: CLINICAL SIMILARITIES WITH HETEROTAXIA.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 84. ISSUE 4. P. 350 -356 43 68% 35
6 SALONEN, R , PAAVOLA, P , (1998) MECKEL SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 35. ISSUE 6. P. 497 -501 28 100% 57
7 DE VRIES, J , YNTEMA, JL , VAN DIE, CE , CRAMA, N , CORNELISSEN, EAM , HAMEL, BCJ , (2010) JEUNE SYNDROME: DESCRIPTION OF 13 CASES AND A PROPOSAL FOR FOLLOW-UP PROTOCOL.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 169. ISSUE 1. P. 77 -88 21 88% 28
8 CHEN, CP , CHEN, CY , CHERN, SR , SU, JW , WANG, W , (2012) FIRST-TRIMESTER PRENATAL DIAGNOSIS OF ELLIS-VAN CREVELD SYNDROME.TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. VOL. 51. ISSUE 4. P. 643-648 22 76% 1
9 TONNI, G , PANTEGHINI, M , BONASONI, M , PATTACINI, P , VENTURA, A , (2013) PRENATAL ULTRASOUND AND MRI DIAGNOSIS OF JEUNE SYNDROME TYPE I (ASPHYXIATING THORACIC DYSTROPHY) WITH HISTOLOGY AND POST-MORTEM THREE-DIMENSIONAL CT CONFIRMATION.FETAL AND PEDIATRIC PATHOLOGY. VOL. 32. ISSUE 2. P. 123-132 18 90% 1
10 ROMERO, M , FRANCO, B , DEL POZO, JS , ROMANCE, A , (2007) BUCCAL ANOMALIES, CEPHALOMETRIC ANALYSIS AND GENETIC STUDY OF TWO SISTERS WITH OROFACIODIGITAL SYNDROME TYPE I.CLEFT PALATE-CRANIOFACIAL JOURNAL. VOL. 44. ISSUE 6. P. 660-666 18 95% 6

Classes with closest relation at Level 1


Rank Class id link
1 1635 JOUBERT SYNDROME//CILIOPATHY//BARDET BIEDL SYNDROME
2 9853 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
3 27158 ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
4 15700 HYPOTHALAMIC HAMARTOMA//GELASTIC SEIZURES//GELASTIC EPILEPSY
5 37024 RAB23//CARPENTER SYNDROME//ACROCEPHALOPOLYSYNDACTYLY TYPE II
6 15793 FRONTONASAL DYSPLASIA//MACROSTOMIA//PROBOSCIS LATERALIS
7 13482 CONGENITAL SCOLIOSIS//EARLY ONSET SCOLIOSIS//GROWING RODS
8 34066 MULIBREY NANISM//3 M SYNDROME//TRIM37
9 22503 AICARDI SYNDROME//FOCAL DERMAL HYPOPLASIA//GOLTZ SYNDROME
10 36128 TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME

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