Class information for:
Level 1: WIEDEMANN RAUTENSTRAUCH SYNDROME//HALLERMANN STREIFF SYNDROME//OCULODENTODIGITAL DYSPLASIA

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
29792 180 22.8 51%



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
602 3       OSTEOPONTIN//AMELOGENIN//TOOTH DEVELOPMENT 14479
1236 2             AMELOGENIN//TOOTH DEVELOPMENT//ODONTOBLAST 9052
29792 1                   WIEDEMANN RAUTENSTRAUCH SYNDROME//HALLERMANN STREIFF SYNDROME//OCULODENTODIGITAL DYSPLASIA 180

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 WIEDEMANN RAUTENSTRAUCH SYNDROME authKW 3223188 11% 100% 19
2 HALLERMANN STREIFF SYNDROME authKW 2827351 11% 83% 20
3 OCULODENTODIGITAL DYSPLASIA authKW 1696395 11% 50% 20
4 NEONATAL PROGEROID SYNDROME authKW 1466182 6% 79% 11
5 NEONATAL PROGERIA authKW 763384 3% 75% 6
6 OCULO DENTO DIGITAL SYNDROME authKW 678566 2% 100% 4
7 GJA1 authKW 603709 6% 32% 11
8 OCULOMANDIBULODYSCEPHALY authKW 508924 2% 100% 3
9 ODDD authKW 508918 3% 50% 6
10 HALLERMANN STREIFF FRANCOIS SYNDROME authKW 339283 1% 100% 2

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 1320 23% 0% 42
2 Genetics & Heredity 1254 35% 0% 63
3 Medical Ethics 522 3% 0% 6
4 Pediatrics 388 17% 0% 30
5 Dentistry, Oral Surgery & Medicine 295 11% 0% 19
6 Dermatology 120 7% 0% 12
7 Medicine, Research & Experimental 19 5% 0% 9
8 Clinical Neurology 11 5% 0% 9
9 Biotechnology & Applied Microbiology 8 4% 0% 8
10 Developmental Biology 7 2% 0% 3

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 PROGRAMA MAESTRIA NEUROCIENCIAS 339283 1% 100% 2
2 LUNG BIOL PULM ALLERGY CRIT CARE 169641 1% 100% 1
3 OPHTHALM PLAST IAL AESTHET SURG SERV 169641 1% 100% 1
4 POLIKLIN RECHTS ISAR 169641 1% 100% 1
5 REFERENCE CONGENITAL ANOMALIES DEV 169641 1% 100% 1
6 REFERENCE CONGENITAL HEREDITARY DEAFNE 169641 1% 100% 1
7 CLIN MED HEMO 84820 1% 50% 1
8 CRANIO IAL DEV DISORDERS MED 84820 1% 50% 1
9 KLIN POLIKLIN IELBEHANDLUNG NEUROOPHTHALMO 84820 1% 50% 1
10 PEDIAT OPHTHALMOL STRABISMUS NEUROOPHTHALMOL SE 84820 1% 50% 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 PAEDIATRICS AND GENETICS 11151 3% 1% 5
2 OPHTHALMOLOGE 8518 7% 0% 12
3 GENETIC COUNSELING 6478 3% 1% 6
4 CLINICAL DYSMORPHOLOGY 5470 3% 1% 6
5 AMERICAN JOURNAL OF MEDICAL GENETICS 3792 8% 0% 14
6 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2933 6% 0% 10
7 JOURNAL OF DENTISTRY FOR CHILDREN 2007 2% 0% 4
8 JOURNAL OF MEDICAL GENETICS 1868 4% 0% 8
9 OPHTHALMIC GENETICS 1133 1% 0% 2
10 JOURNAL DE GENETIQUE HUMAINE 910 1% 1% 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 WIEDEMANN RAUTENSTRAUCH SYNDROME 3223188 11% 100% 19 Search WIEDEMANN+RAUTENSTRAUCH+SYNDROME Search WIEDEMANN+RAUTENSTRAUCH+SYNDROME
2 HALLERMANN STREIFF SYNDROME 2827351 11% 83% 20 Search HALLERMANN+STREIFF+SYNDROME Search HALLERMANN+STREIFF+SYNDROME
3 OCULODENTODIGITAL DYSPLASIA 1696395 11% 50% 20 Search OCULODENTODIGITAL+DYSPLASIA Search OCULODENTODIGITAL+DYSPLASIA
4 NEONATAL PROGEROID SYNDROME 1466182 6% 79% 11 Search NEONATAL+PROGEROID+SYNDROME Search NEONATAL+PROGEROID+SYNDROME
5 NEONATAL PROGERIA 763384 3% 75% 6 Search NEONATAL+PROGERIA Search NEONATAL+PROGERIA
6 OCULO DENTO DIGITAL SYNDROME 678566 2% 100% 4 Search OCULO+DENTO+DIGITAL+SYNDROME Search OCULO+DENTO+DIGITAL+SYNDROME
7 GJA1 603709 6% 32% 11 Search GJA1 Search GJA1
8 OCULOMANDIBULODYSCEPHALY 508924 2% 100% 3 Search OCULOMANDIBULODYSCEPHALY Search OCULOMANDIBULODYSCEPHALY
9 ODDD 508918 3% 50% 6 Search ODDD Search ODDD
10 HALLERMANN STREIFF FRANCOIS SYNDROME 339283 1% 100% 2 Search HALLERMANN+STREIFF+FRANCOIS+SYNDROME Search HALLERMANN+STREIFF+FRANCOIS+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 HOU, JW , (2009) NATURAL COURSE OF NEONATAL PROGEROID SYNDROME.PEDIATRICS AND NEONATOLOGY. VOL. 50. ISSUE 3. P. 102-109 19 100% 7
2 LIMERES, J , ABELEIRA, M , TOMAS, I , FEIJOO, JF , VILABOA, C , DIZ, P , (2004) AN ATYPICAL HALLERMANN-STREIFF SYNDROME. FOCUS ON DENTAL CARE AND DIFFERENTIAL DIAGNOSIS.QUINTESSENCE INTERNATIONAL. VOL. 35. ISSUE 1. P. 49-55 18 95% 4
3 ALAO, MJ , BONNEAU, D , HOLDER-ESPINASSE, M , GOIZET, C , MANOUVRIER-HANU, S , MEZEL, A , PETIT, F , SUBTIL, D , MAGDELAINE, C , LACOMBE, D , (2010) OCULO-DENTO-DIGITAL DYSPLASIA: LACK OF GENOTYPE-PHENOTYPE CORRELATION FOR GJA1 MUTATIONS AND USEFULNESS OF NEURO-IMAGING.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 53. ISSUE 1. P. 19-22 13 93% 12
4 DINLEYICI, EC , TEKIN, N , DINLEYICI, M , AKSIT, MA , (2008) CLINICAL AND LABORATORY FINDINGS OF TWO NEWBORNS WITH WIEDEMANN-RAUTENSTRAUCH SYNDROME: ADDITIONAL FEATURES, EVALUATION OF BONE TURNOVER AND REVIEW OF THE LITERATURE.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. VOL. 21. ISSUE 6. P. 591-596 13 93% 3
5 HUANG, X , WANG, N , XIAO, X , LI, S , ZHANG, Q , (2015) A NOVEL TRUNCATION MUTATION IN GJA1 ASSOCIATED WITH OPEN ANGLE GLAUCOMA AND MICROCORNEA IN A LARGE CHINESE FAMILY.EYE. VOL. 29. ISSUE 7. P. 972 -977 21 47% 0
6 LODDENKEMPER, T , GROTE, K , EVERS, S , OELERICH, M , STOGBAUER, F , (2002) NEUROLOGICAL MANIFESTATIONS OF THE OCULODENTODIGITAL DYSPLASIA SYNDROME.JOURNAL OF NEUROLOGY. VOL. 249. ISSUE 5. P. 584-595 17 71% 90
7 TUNC, T , BULBUL, A , ERDINC, K , SARICI, SU , GUL, D , OZCAN, O , (2009) THE WIEDEMANN-RAUTENSTRAUCH OR NEONATAL PROGEROID SYNDROME: REPORT OF A PATIENT WITH HYPOSPADIAS.GENETIC COUNSELING. VOL. 20. ISSUE 4. P. 367 -371 11 100% 4
8 HOPPEN, T , HAUSSER, I , THEILE, U , FERRARI, R , MULLER, W , RISTER, M , (2000) THE NEONATAL PROGEROID SYNDROME (WIEDEMANN-RAUTENSTRAUCH SYNDROME): CASE REPORT AND REVIEW OF THE LITERATURE.KLINISCHE PADIATRIE. VOL. 212. ISSUE 2. P. 71-76 14 93% 4
9 DAVID, LR , FINLON, M , GENECOV, D , ARGENTA, LC , (1999) HALLERMANN-STREIFF SYNDROME: EXPERIENCE WITH 15 PATIENTS AND REVIEW OF THE LITERATURE.JOURNAL OF CRANIOFACIAL SURGERY. VOL. 10. ISSUE 2. P. 160-168 15 88% 13
10 PAZNEKAS, WA , KARCZESKI, B , VERMEER, S , LOWRY, RB , DELATYCKI, M , LAURENCE, F , KOIVISTO, PA , VAN MALDERGEM, L , BOYADJIEV, SA , BODURTHA, JN , ET AL (2009) GJA1 MUTATIONS, VARIANTS, AND CONNEXIN 43 DYSFUNCTION AS IT RELATES TO THE OCULODENTODIGITAL DYSPLASIA PHENOTYPE.HUMAN MUTATION. VOL. 30. ISSUE 5. P. 724-733 24 32% 116

Classes with closest relation at Level 1



Rank Class id link
1 36345 ENAMEL PEARLS//REGIONAL ODONTODYSPLASIA//GHOST TEETH
2 76 GAP JUNCTION//CONNEXIN//CONNEXIN43
3 14769 KID SYNDROME//MAL DE MELEDA//PALMOPLANTAR KERATODERMA
4 16562 ANOPHTHALMIA//NANOPHTHALMOS//MICROPHTHALMIA
5 14805 FOXC1//PETERS ANOMALY//AXENFELD RIEGER SYNDROME
6 24536 RUBINSTEIN TAYBI SYNDROME//FLOATING HARBOR SYNDROME//CORNEAL KELOID
7 12679 ARTHROGRYPOSIS//FREEMAN SHELDON SYNDROME//AMYOPLASIA
8 1053 LAMIN//LAMINOPATHY//NUCLEAR ENVELOPE
9 11506 SYNDACTYLY//POLLICIZATION//RADIAL LONGITUDINAL DEFICIENCY
10 30096 MARINESCO SJOGREN SYNDROME//SIL1//WARBURG MICRO SYNDROME

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