Class information for:
Level 1: PITT HOPKINS SYNDROME//18Q DELETION SYNDROME//18Q SYNDROME

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
18397 488 21.8 64%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
409 16055 WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 PITT HOPKINS SYNDROME Author keyword 32 78% 4% 21
2 18Q DELETION SYNDROME Author keyword 31 92% 2% 12
3 18Q SYNDROME Author keyword 30 84% 3% 16
4 TETRASOMY 18P Author keyword 24 82% 3% 14
5 18P DELETION SYNDROME Author keyword 23 100% 2% 10
6 ISOCHROMOSOME 18P Author keyword 22 81% 3% 13
7 CHROMOSOME 18 Author keyword 19 30% 11% 53
8 RING CHROMOSOME 18 Author keyword 19 74% 3% 14
9 18Q SYNDROME Author keyword 18 89% 2% 8
10 MONOSOMY 18P Author keyword 17 72% 3% 13

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 PITT HOPKINS SYNDROME 32 78% 4% 21 Search PITT+HOPKINS+SYNDROME Search PITT+HOPKINS+SYNDROME
2 18Q DELETION SYNDROME 31 92% 2% 12 Search 18Q+DELETION+SYNDROME Search 18Q+DELETION+SYNDROME
3 18Q SYNDROME 30 84% 3% 16 Search 18Q+SYNDROME Search 18Q+SYNDROME
4 TETRASOMY 18P 24 82% 3% 14 Search TETRASOMY+18P Search TETRASOMY+18P
5 18P DELETION SYNDROME 23 100% 2% 10 Search 18P+DELETION+SYNDROME Search 18P+DELETION+SYNDROME
6 ISOCHROMOSOME 18P 22 81% 3% 13 Search ISOCHROMOSOME+18P Search ISOCHROMOSOME+18P
7 CHROMOSOME 18 19 30% 11% 53 Search CHROMOSOME+18 Search CHROMOSOME+18
8 RING CHROMOSOME 18 19 74% 3% 14 Search RING+CHROMOSOME+18 Search RING+CHROMOSOME+18
9 18Q SYNDROME 18 89% 2% 8 Search 18Q++SYNDROME Search 18Q++SYNDROME
10 MONOSOMY 18P 17 72% 3% 13 Search MONOSOMY+18P Search MONOSOMY+18P

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 18Q SYNDROME 61 86% 6% 31
2 ISOCHROMOSOME 18P 15 62% 3% 16
3 MONOSOMY 18P 13 71% 2% 10
4 TCF4 GENE 11 100% 1% 6
5 RING CHROMOSOME 18 8 75% 1% 6
6 18Q 8 32% 4% 20
7 PITT HOPKINS SYNDROME 7 30% 4% 21
8 TETRASOMY 18P 7 67% 1% 6
9 TRISOMY 18Q 6 80% 1% 4
10 DEL18P SYNDROME 6 71% 1% 5

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Monosomy 18p 2008 34 32 63%
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription 2013 7 55 58%
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome 2014 1 18 39%
MONOSOMY 18Q12.1-]21.1 - A RECOGNIZABLE ANEUPLOIDY SYNDROME - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE 1992 14 5 100%
Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective 2014 2 189 12%
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation-and review of the literature 2012 2 41 37%
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature 2013 4 34 21%
TCF4 (e2-2; ITF2): A schizophrenia-associated gene with pleiotropic effects on human disease 2013 9 146 12%
HOW DO HUMAN ISOCHROMOSOMES ARISE 1982 67 5 20%
AUTOSOMAL WHOLE ARM TRANSLOCATIONS IN MAN - A PATIENT WITH T(P7P,5Q7Q) TYPE REARRANGEMENT AND REVIEW OF THE LITERATURE 1986 6 7 14%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ.
in class
1 CHROMOSOME CLIN 18 9 83% 1.0% 5
2 MICRODISSECT 1 100% 0.4% 2
3 EAR MED GRP 1 40% 0.4% 2
4 ASSISTANCE PUBL HOP PARISINSERMU781 1 50% 0.2% 1
5 CHESHIRE MERSEYSIDE REG CLIN GENET 1 50% 0.2% 1
6 DISABLED STUDENT SERV 1 50% 0.2% 1
7 INFERTIL SEXOL 1 50% 0.2% 1
8 KLIN POLIKLIN KINDERHEIKUNDE 1 50% 0.2% 1
9 PEDIT NEUROL 1 50% 0.2% 1
10 REFERENCE MALAD RA MALFORMAT MALAD CONGE 1 50% 0.2% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000230246 CAT EYE SYNDROME//SUPERNUMERARY MARKER CHROMOSOMES//SMALL SUPERNUMERARY MARKER CHROMOSOME
2 0.0000175118 TRISOMY 18//TRISOMY 13//PATAU SYNDROME
3 0.0000158249 RING CHROMOSOME 21//MONOSOMY 21//RING CHROMOSOME 15
4 0.0000149829 TRISOMY 9P//TETRASOMY 9P//PARTIAL TRISOMY 7P
5 0.0000128539 HOLOPROSENCEPHALY//OTOCEPHALY//HPE
6 0.0000117803 SUBTELOMERIC REARRANGEMENTS//IDIOPATHIC MENTAL RETARDATION//MBD5
7 0.0000116922 PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//TRISOMY 12P
8 0.0000109798 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
9 0.0000108174 CRI DU CHAT SYNDROME//CRI DU CHAT//3P DELETION SYNDROME
10 0.0000102114 CONFINED PLACENTAL MOSAICISM//UNIPARENTAL DISOMY//TRISOMY 9