Class information for:
Level 1: JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
25553 278 23.9 72%


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
25553 1                   JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER 278

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 JACOBSEN SYNDROME authKW 4323320 18% 80% 49
2 11Q SYNDROME authKW 878713 3% 100% 8
3 11Q TERMINAL DELETION DISORDER authKW 564885 2% 86% 6
4 BOHRING OPITZ SYNDROME authKW 564885 2% 86% 6
5 11Q MONOSOMY authKW 439356 1% 100% 4
6 DISTAL 11Q DELETION authKW 439356 1% 100% 4
7 FRA11B authKW 439356 1% 100% 4
8 PARIS TROUSSEAU SYNDROME authKW 439356 1% 100% 4
9 C SYNDROME authKW 351484 1% 80% 4
10 CHROMOSOME 11Q DELETION authKW 351484 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 8677 72% 0% 201
2 Medical Ethics 1597 5% 0% 13
3 Pediatrics 140 9% 0% 24
4 Biotechnology & Applied Microbiology 66 8% 0% 22
5 Obstetrics & Gynecology 55 5% 0% 14
6 Medicine, Research & Experimental 36 5% 0% 15
7 Ophthalmology 19 3% 0% 8
8 Developmental Biology 8 1% 0% 4
9 Hematology 5 2% 0% 6
10 Cell Biology 3 4% 0% 11

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 ANGLIA FDN 219678 1% 100% 2
2 SERV HAEMATOL BIOL 219678 1% 100% 2
3 CHILD DIS 1 109839 0% 100% 1
4 CHROMATINE DEV 109839 0% 100% 1
5 GENT MED DIAGNOST PRENATAL 109839 0% 100% 1
6 MC 847 109839 0% 100% 1
7 MED A GEMELLI IST NEUROCHIRURG 109839 0% 100% 1
8 MED GENETHARBOR UCLA MED DAVID GEFFEN SC 109839 0% 100% 1
9 NANJING DRUM TOWER HOSPAFFILIATED HOSPMED 109839 0% 100% 1
10 NEUROBIOL SBR14 109839 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 PART A 27533 14% 1% 38
2 AMERICAN JOURNAL OF MEDICAL GENETICS 22175 15% 0% 42
3 GENETIC COUNSELING 19701 5% 1% 13
4 ANNALES DE GENETIQUE 11596 4% 1% 11
5 MOLECULAR CYTOGENETICS 8141 2% 1% 6
6 CLINICAL DYSMORPHOLOGY 6294 3% 1% 8
7 CLINICAL GENETICS 3635 5% 0% 13
8 EUROPEAN JOURNAL OF MEDICAL GENETICS 3469 2% 1% 6
9 HELVETICA PAEDIATRICA ACTA 2080 1% 1% 3
10 JAPANESE JOURNAL OF HUMAN GENETICS 1921 1% 1% 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 JACOBSEN SYNDROME 4323320 18% 80% 49 Search JACOBSEN+SYNDROME Search JACOBSEN+SYNDROME
2 11Q SYNDROME 878713 3% 100% 8 Search 11Q+SYNDROME Search 11Q+SYNDROME
3 11Q TERMINAL DELETION DISORDER 564885 2% 86% 6 Search 11Q+TERMINAL+DELETION+DISORDER Search 11Q+TERMINAL+DELETION+DISORDER
4 BOHRING OPITZ SYNDROME 564885 2% 86% 6 Search BOHRING+OPITZ+SYNDROME Search BOHRING+OPITZ+SYNDROME
5 11Q MONOSOMY 439356 1% 100% 4 Search 11Q+MONOSOMY Search 11Q+MONOSOMY
6 DISTAL 11Q DELETION 439356 1% 100% 4 Search DISTAL+11Q+DELETION Search DISTAL+11Q+DELETION
7 FRA11B 439356 1% 100% 4 Search FRA11B Search FRA11B
8 PARIS TROUSSEAU SYNDROME 439356 1% 100% 4 Search PARIS+TROUSSEAU+SYNDROME Search PARIS+TROUSSEAU+SYNDROME
9 C SYNDROME 351484 1% 80% 4 Search C+SYNDROME Search C+SYNDROME
10 CHROMOSOME 11Q DELETION 351484 1% 80% 4 Search CHROMOSOME+11Q+DELETION Search CHROMOSOME+11Q+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 MATTINA, T , PERROTTA, CS , GROSSFELD, P , (2009) JACOBSEN SYNDROME.ORPHANET JOURNAL OF RARE DISEASES. VOL. 4. ISSUE . P. - 35 78% 56
2 LEEGTE, B , KERSTJENS-FREDERIKSE, WS , DEELSTRA, K , BEGEER, JH , VAN ESSEN, AJ , (1999) 11Q-SYNDROME: THREE CASES AND A REVIEW OF THE LITERATURE.GENETIC COUNSELING. VOL. 10. ISSUE 3. P. 305-313 38 83% 21
3 CETIN, Z , ALTIOK-CLARK, O , YAKUT, S , GUZEL-NUR, B , MIHCI, E , BERKER-KARAUZUM, S , (2016) A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOPASSING THE 11Q14.1-Q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES.GENETIC COUNSELING. VOL. 27. ISSUE 1. P. 51 -66 17 94% 0
4 MAHJOUBI, F , RAZAZIAN, F , TORABI, R , (2014) A CASE WITH 46,XX,DEL(11)(Q23.2) KARYOTYPE AND POOR VISION WITH LITERATURE REVIEW.GENETIC COUNSELING. VOL. 25. ISSUE 3. P. 277 -287 20 83% 0
5 PAPOULIDIS, I , PASPALIARIS, V , SIOMOU, E , ORRU, S , MURRU, R , SIFAKIS, S , NIKOLAIDIS, P , GARAS, A , SOTIRIOU, S , THOMAIDIS, L , ET AL (2015) INTERSTITIAL DELETION AT 11Q14.2-11Q22.1 MAY CAUSE SEVERE LEARNING DIFFICULTIES, MENTAL RETARDATION AND MILD HEART DEFECTS IN 13-YEAR OLD MALE.MOLECULAR CYTOGENETICS. VOL. 8. ISSUE . P. - 21 70% 0
6 VAN ZUTVEN, LJCM , VAN BEVER, Y , VAN NIEUWLAND, CCM , HUIJBREGTS, GCM , VAN OPSTAL, D , VON BERGH, ARM , COREL, LJA , TIBBOEL, D , WOUTERS, CH , PODDIGHE, PJ , (2009) INTERSTITIAL 11Q DELETION DERIVED FROM A MATERNAL INS(4;11)(P14;Q24-2Q25): A PATIENT REPORT AND REVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 149A. ISSUE 7. P. 1468-1475 18 82% 8
7 OPITZ, JM , PUTNAM, AR , COMSTOCK, JM , CHIN, S , BYRNE, JLB , KENNEDY, A , FRIKKE, MJ , BERNARD, C , ALBRECHT, S , KALOUSTIAN, VD , ET AL (2006) MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME.FETAL AND PEDIATRIC PATHOLOGY. VOL. 25. ISSUE 4. P. 211-231 15 100% 3
8 RUSSELL, B , JOHNSTON, JJ , BIESECKER, LG , KRAMER, N , PICKART, A , RHEAD, W , TAN, WH , BROWNSTEIN, CA , CLARKSON, LK , DOBSON, A , ET AL (2015) CLINICAL MANAGEMENT OF PATIENTS WITH ASXL1 MUTATIONS AND BOHRING-OPITZ SYNDROME, EMPHASIZING THE NEED FOR WILMS TUMOR SURVEILLANCE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 9. P. 2122 -2131 16 67% 7
9 DANGIOLO, SB , WILSON, A , JOBANPUTRA, V , ANYANE-YEBOA, K , (2015) BOHRING-OPITZ SYNDROME (BOS) WITH A NEW ASXL1 PATHOGENIC VARIANT: REVIEW OF THE MOST PREVALENT MOLECULAR AND PHENOTYPIC FEATURES OF THE SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 12. P. 3161 -3166 11 100% 2
10 SACHDEVA, R , SEARS, JE , RYCHWALSKI, PJ , (2010) A NOVEL CASE OF BILATERAL HIGH MYOPIA, CATARACT, AND TOTAL RETINAL DETACHMENT ASSOCIATED WITH INTERSTITIAL 11Q DELETION.OPHTHALMIC GENETICS. VOL. 31. ISSUE 2. P. 84-88 15 83% 6

Classes with closest relation at Level 1


Rank Class id link
1 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
2 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
3 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME
4 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
5 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
6 14963 MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20
7 19654 TN10 PRECISE EXCISION//PARTIAL TRISOMY 11Q//EMANUEL SYNDROME
8 24336 BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME
9 15313 MAY HEGGLIN ANOMALY//INHERITED THROMBOCYTOPENIA//EPSTEIN SYNDROME
10 36128 TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME

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