Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. (Q34542269)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Takashi Shiihara

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

22

Dorit Lev

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

33

Norio Niikawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

30

Koh-ichiro Yoshiura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

4

Noriko Miyake

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

31

Tohru Ohta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

32

Tatsuya Kishino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

27

Yoshimitsu Fukushima

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1

Naohiro Kurotaki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

3

Osamu Shimokawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

8

Tatsuro Kondoh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

11

Toshiro Nagai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

15

Hirofumi Ohashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

20

Nobuhiko Okamoto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

28

Kenji Kurosawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

7

Yoshio Makita

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

10

Tomoko Hasegawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

25

Tohru Sonoda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

author name string

Naoki Harada

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Hiroshi Kawame

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Kimiaki Uetake

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Takao Ozaki

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Mayumi Touyama

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Ruthie Shenhav

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Livija Medne

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Shigeyuki Ohtsu

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Zen-ichiro Kato

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Junji Nishimoto

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Yoko Miyoshi

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Satoshi Ishikiriyama

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Satoru Sakazume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Jan-Fang Cheng

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Naomichi Matsumoto

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

publication date

1 November 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

378-387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

cites work

Growth in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Sotos syndrome: a study of the diagnostic criteria and natural history

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Molecular mechanisms for genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Congenital heart defects in Sotos sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Epidemiology of limb-body wall complex in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

The syndromes of Sotos and Weaver: reports and review.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

The neuroimaging findings in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

PipMaker--a web server for aligning two genomic DNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10270

7 January 2021

Identifiers

DOI

10.1002/HUMU.10270

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14517949%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference