Class information for:
Level 1: SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
36055 87 19.4 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
196 3       GENETICS & HEREDITY//FRAGILE X SYNDROME//AMERICAN JOURNAL OF MEDICAL GENETICS 53756
4078 2             KABUKI SYNDROME//SCHIMKE IMMUNO OSSEOUS DYSPLASIA//KABUKI MAKE UP SYNDROME 600
36055 1                   SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION 87

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 SCHINZEL GIEDION SYNDROME authKW 8423628 28% 100% 24
2 MEGACALYCOSIS authKW 1123149 5% 80% 4
3 MIDFACE RETRACTION authKW 701969 2% 100% 2
4 ALACRYMIA authKW 350985 1% 100% 1
5 BROAD RIBS authKW 350985 1% 100% 1
6 CONGENITAL MEGACALYCES authKW 350985 1% 100% 1
7 CONGENITAL MEGACALYCOSIS authKW 350985 1% 100% 1
8 CORALIFORM NEPHROLITHIASIS authKW 350985 1% 100% 1
9 FACIAL GESTALT authKW 350985 1% 100% 1
10 GENET MEDIGMA address 350985 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 Pediatrics 453 25% 0% 22
2 Genetics & Heredity 400 29% 0% 25
3 Radiology, Nuclear Medicine & Medical Imaging 259 22% 0% 19
4 Acoustics 248 10% 0% 9
5 Urology & Nephrology 122 11% 0% 10
6 Medical Ethics 29 1% 0% 1
7 Clinical Neurology 20 8% 0% 7
8 Medicine, General & Internal 7 6% 0% 5
9 Peripheral Vascular Diseases 2 2% 0% 2
10 Hematology 2 2% 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 GENET MEDIGMA 350985 1% 100% 1
2 PEDIAT NEUROL GEN PEDIAT HAEMATOL ONCO 350985 1% 100% 1
3 REPARTO UROL PEDIAT 350985 1% 100% 1
4 SERV GENET COIMBRA 350985 1% 100% 1
5 TORONTO NO REG GENET 350985 1% 100% 1
6 NW THAMES REG GENET UNIT 175491 1% 50% 1
7 PEDIAT NEUROL PEDIAT MED 175491 1% 50% 1
8 SOUTH BAY REG GENET 175491 1% 50% 1
9 MEDMAGEE WOMENS HOSP 116994 1% 33% 1
10 INSERMU1112 87745 1% 25% 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 CLINICAL DYSMORPHOLOGY 11330 7% 1% 6
2 WEST VIRGINIA MEDICAL JOURNAL 9748 1% 3% 1
3 ULTRASCHALL IN DER MEDIZIN 7047 7% 0% 6
4 PADIATRIE UND PADOLOGIE 3942 1% 1% 1
5 AMERICAN JOURNAL OF MEDICAL GENETICS 1962 8% 0% 7
6 ANNALES DE RADIOLOGIE 1529 2% 0% 2
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 1232 2% 0% 2
8 MEDICAL PROGRESS THROUGH TECHNOLOGY 1134 1% 0% 1
9 JAPANESE JOURNAL OF HUMAN GENETICS 682 1% 0% 1
10 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 544 3% 0% 3

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 SCHINZEL GIEDION SYNDROME 8423628 28% 100% 24 Search SCHINZEL+GIEDION+SYNDROME Search SCHINZEL+GIEDION+SYNDROME
2 MEGACALYCOSIS 1123149 5% 80% 4 Search MEGACALYCOSIS Search MEGACALYCOSIS
3 MIDFACE RETRACTION 701969 2% 100% 2 Search MIDFACE+RETRACTION Search MIDFACE+RETRACTION
4 ALACRYMIA 350985 1% 100% 1 Search ALACRYMIA Search ALACRYMIA
5 BROAD RIBS 350985 1% 100% 1 Search BROAD+RIBS Search BROAD+RIBS
6 CONGENITAL MEGACALYCES 350985 1% 100% 1 Search CONGENITAL+MEGACALYCES Search CONGENITAL+MEGACALYCES
7 CONGENITAL MEGACALYCOSIS 350985 1% 100% 1 Search CONGENITAL+MEGACALYCOSIS Search CONGENITAL+MEGACALYCOSIS
8 CORALIFORM NEPHROLITHIASIS 350985 1% 100% 1 Search CORALIFORM+NEPHROLITHIASIS Search CORALIFORM+NEPHROLITHIASIS
9 FACIAL GESTALT 350985 1% 100% 1 Search FACIAL+GESTALT Search FACIAL+GESTALT
10 HYPOPLASTIC PUBIC RAMI 350985 1% 100% 1 Search HYPOPLASTIC+PUBIC+RAMI Search HYPOPLASTIC+PUBIC+RAMI

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 CARVALHO, E , HONJO, R , MAGALHAES, M , YAMAMOTO, G , ROCHA, K , NASLAVSKY, M , ZATZ, M , PASSOS-BUENO, MR , KIM, C , BERTOLA, D , (2015) SCHINZEL-GIEDION SYNDROME IN TWO BRAZILIAN PATIENTS: REPORT OF A NOVEL MUTATION IN SETBP1 AND LITERATURE REVIEW OF THE CLINICAL FEATURES.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 5. P. 1039 -1046 31 91% 3
2 LEHMAN, AM , MCFADDEN, D , PUGASH, D , SANGHA, K , GIBSON, WT , PATEL, MS , (2008) SCHINZEL-GIEDION SYNDROME: REPORT OF SPLENOPANCREATIC FUSION AND PROPOSED DIAGNOSTIC CRITERIA.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 146A. ISSUE 10. P. 1299-1306 27 75% 15
3 AL-MUDAFFER, M , OLEY, C , PRICE, S , HAYES, I , STEWART, A , HALL, CM , REARDON, W , (2008) CLINICAL AND RADIOLOGICAL FINDINGS IN SCHINZEL-GIEDION SYNDROME.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 167. ISSUE 12. P. 1399 -1407 18 100% 7
4 HERENGER, Y , STOETZEL, C , SCHAEFER, E , SCHEIDECKER, S , MANIERE, MC , PELLETIER, E , ALEMBIK, Y , CHRISTMANN, D , CLAVERT, JM , TERZIC, J , ET AL (2015) LONG TERM FOLLOW UP OF TWO INDEPENDENT PATIENTS WITH SCHINZEL-GIEDION CARRYING SETBP1 MUTATIONS.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 58. ISSUE 9. P. 479 -487 14 93% 1
5 GROSSO, S , PAGANO, C , CIONI, M , DI BARTOLO, RM , MORGESE, G , BALESTRI, P , (2003) SCHINZEL-GIEDION SYNDROME: A FURTHER CAUSE OF WEST SYNDROME.BRAIN & DEVELOPMENT. VOL. 25. ISSUE 4. P. 294-298 18 95% 8
6 KO, JM , LIM, BC , KIM, KJ , HWANG, YS , RYU, HW , LEE, JH , KIM, JS , CHAE, JH , (2013) DISTINCT NEUROLOGICAL FEATURES IN A PATIENT WITH SCHINZEL-GIEDION SYNDROME CAUSED BY A RECURRENT SETBP1 MUTATION.CHILDS NERVOUS SYSTEM. VOL. 29. ISSUE 4. P. 525-529 12 80% 6
7 JOSS, S , DEAN, JCS , (2002) A SCHINZEL-GIEDION-LIKE SYNDROME - A MILDER VERSION OR A SEPARATE CONDITION?.CLINICAL DYSMORPHOLOGY. VOL. 11. ISSUE 4. P. 271-275 13 100% 3
8 MINN, D , CHRISTMANN, D , DE SAINT-MARTIN, A , ALEMBIK, Y , ELIOT, M , MACK, G , FISCHBACH, M , FLAMENT, J , VEILLON, F , DOLLFUS, H , (2002) FURTHER CLINICAL AND SENSORIAL DELINEATION OF SCHINZEL-GIEDION SYNDROME: REPORT OF TWO CASES.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 109. ISSUE 3. P. 211 -217 16 73% 17
9 LACH, B , ARREDONDO, J , (2013) COBBLESTONE LISSENCEPHALY IN SCHINZEL-GIEDION SYNDROME.JOURNAL OF CHILD NEUROLOGY. VOL. 28. ISSUE 2. P. 259-263 12 71% 2
10 TAKEUCHI, A , OKAMOTO, N , FUJINAGA, S , MORITA, H , SHIMIZU, J , AKIYAMA, T , NINOMIYA, S , TAKANASHI, J , KUBO, T , (2015) PROGRESSIVE BRAIN ATROPHY IN SCHINZEL-GIEDION SYNDROME WITH A SETBP1 MUTATION.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 58. ISSUE 8. P. 369 -371 8 100% 0

Classes with closest relation at Level 1


Rank Class id link
1 33700 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD
2 27158 ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
3 26264 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME
4 36638 DIAPHRAGMATIC MESOTHELIAL CYST//COURSE MOL CELLULAR MED RADIAT ONCOL//CYST CONGENITAL
5 32878 BLOWDOWN WIND TUNNEL//ARTISAN FOOD//MEAT PIE OF MURCIA
6 8041 HYDRONEPHROSIS//DIURETIC RENOGRAPHY//RADIOISOTOPE RENOGRAPHY
7 34790 ANTERIOR FONTANEL//ACTIVITY OF LEARNING//KIDNEY COLLECTING DUCT CYSTS
8 36853 UMBILICAL CORD PROLAPSE//FORE LYING CORD//CORD PROLAPSE
9 24336 BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME
10 27738 PARAUMBILICAL VEIN//RECANALIZED UMBILICAL VEIN//ACCESSORY PORTAL VEIN

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