Class information for:
Level 1: SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
23683 283 30.7 81%


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 SMITH MAGENIS SYNDROME Author keyword 92 72% 26% 73
2 RAI1 Author keyword 35 89% 6% 16
3 POTOCKI LUPSKI SYNDROME Author keyword 33 100% 5% 13
4 17P112 Author keyword 18 83% 4% 10
5 CHROMOSOME 17P112 Author keyword 8 75% 2% 6
6 DELETION 17P112 Author keyword 8 100% 2% 5
7 17P112 DELETION Author keyword 7 64% 2% 7
8 DUPLICATION 17P112 Author keyword 6 80% 1% 4
9 TRISOMY 17P Author keyword 5 63% 2% 5
10 PARTIAL TRISOMY 17P Author keyword 4 75% 1% 3

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 SMITH MAGENIS SYNDROME 92 72% 26% 73 Search SMITH+MAGENIS+SYNDROME Search SMITH+MAGENIS+SYNDROME
2 RAI1 35 89% 6% 16 Search RAI1 Search RAI1
3 POTOCKI LUPSKI SYNDROME 33 100% 5% 13 Search POTOCKI+LUPSKI+SYNDROME Search POTOCKI+LUPSKI+SYNDROME
4 17P112 18 83% 4% 10 Search 17P112 Search 17P112
5 CHROMOSOME 17P112 8 75% 2% 6 Search CHROMOSOME+17P112 Search CHROMOSOME+17P112
6 DELETION 17P112 8 100% 2% 5 Search DELETION+17P112 Search DELETION+17P112
7 17P112 DELETION 7 64% 2% 7 Search 17P112+DELETION Search 17P112+DELETION
8 DUPLICATION 17P112 6 80% 1% 4 Search DUPLICATION+17P112 Search DUPLICATION+17P112
9 TRISOMY 17P 5 63% 2% 5 Search TRISOMY+17P Search TRISOMY+17P
10 PARTIAL TRISOMY 17P 4 75% 1% 3 Search PARTIAL+TRISOMY+17P Search PARTIAL+TRISOMY+17P

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 RAI1 77 96% 8% 24
2 DUP17P112P112 76 100% 8% 24
3 17P112P112 71 77% 17% 48
4 17P112 50 63% 18% 50
5 SYNDROME DEL 17P112 36 79% 8% 23
6 17P112 DELETIONS 35 89% 6% 16
7 DUPLICATION 17P112 30 100% 4% 12
8 SMITH MAGENIS SYNDROME 14 24% 18% 51
9 DEL17P112 14 100% 2% 7
10 BETA1 ADRENERGIC ANTAGONISTS 11 67% 4% 10

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2) 2006 34 39 74%
Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment 2006 36 27 63%
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways 2011 7 68 74%
Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)] 2006 10 26 92%
Smith-Magenis syndrome: case report and review 2008 0 10 100%
Structural variation mutagenesis of the human genome: Impact on disease and evolution 2015 1 119 13%
Genomic and Clinical Characteristics of Microduplications in Chromosome 17 2010 17 73 22%
The Smith-Magenis syndrome. 1997 1 17 82%
INTERSTITIAL DELETION OF 17P11.2 - CASE-REPORT AND REVIEW 1988 17 4 75%
THE CASE OF THE GRAY OPTIC DISK 1989 2 5 60%

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 NEUROPSYCHOPHYSIOL CIPSI 1 40% 0.7% 2
2 CLIN PSYCHIAT 3 1 50% 0.4% 1
3 ESTUDIOS CIENTIFICOS 1 50% 0.4% 1
4 HOSP EST 1 50% 0.4% 1
5 HUMV 1 50% 0.4% 1
6 INSERM 846 1 50% 0.4% 1
7 RADIO PHARM 1 50% 0.4% 1
8 RECH NEUROSCI LYONINSERM U1028 1 50% 0.4% 1
9 SPEECH LANGUAGE LEARNING 1 50% 0.4% 1
10 SPEECH LANGUAGE LEARNING DISORDERS 1 50% 0.4% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000286404 FLIGHTLESS I//TTYH1//TWEETY
2 0.0000198633 SUBTELOMERIC REARRANGEMENTS//IDIOPATHIC MENTAL RETARDATION//MBD5
3 0.0000120324 CAT EYE SYNDROME//SUPERNUMERARY MARKER CHROMOSOMES//SMALL SUPERNUMERARY MARKER CHROMOSOME
4 0.0000108955 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT CCR//COMPLEX CHROMOSOMAL REARRANGEMENTS
5 0.0000093203 CHARCOT MARIE TOOTH DISEASE//PMP22//CHARCOT MARIE TOOTH
6 0.0000087539 TRISOMY 10Q//MONOSOMY 10Q//10P TRISOMY
7 0.0000073042 ZNF804A//MCLAUGHLIN//MOL CLIN NEUROBIOL
8 0.0000065439 CRI DU CHAT SYNDROME//CRI DU CHAT//3P DELETION SYNDROME
9 0.0000064629 BIRT HOGG DUBE SYNDROME//FOLLICULIN//FIBROFOLLICULOMA
10 0.0000064201 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//UBE3A