(Q36018583)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

title

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

3

1 reference

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1 April 2020

Koji Muroya

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Shinsuke Shibata

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Hideyuki Okano

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

6

Masanori Adachi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

33

Atsushi Shimizu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

author name string

Satoshi Narumi

1

1 reference

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1 April 2020

Naoko Amano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Noriyuki Katsumata

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Katsuaki Toyoshima

7

1 reference

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1 April 2020

Yukichi Tanaka

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Ryuji Fukuzawa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Kenichi Miyako

10

1 reference

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1 April 2020

Saori Kinjo

11

1 reference

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1 April 2020

Shouichi Ohga

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Kenji Ihara

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Hirosuke Inoue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Tadamune Kinjo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Toshiro Hara

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Miyuki Kohno

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Shiro Yamada

18

1 reference

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1 April 2020

Hironaka Urano

19

1 reference

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1 April 2020

Yosuke Kitagawa

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Koji Tsugawa

21

1 reference

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1 April 2020

Asumi Higa

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Masakazu Miyawaki

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Takahiro Okutani

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Zenro Kizaki

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Hiroyuki Hamada

26

1 reference

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1 April 2020

Minako Kihara

27

1 reference

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1 April 2020

Kentaro Shiga

28

1 reference

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1 April 2020

Tetsuya Yamaguchi

29

1 reference

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1 April 2020

Manabu Kenmochi

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Hiroyuki Kitajima

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Maki Fukami

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Jun Kudoh

34

1 reference

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1 April 2020

Noriko Miyake

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Naomichi Matsumoto

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Tomonobu Hasegawa

39

1 reference

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1 April 2020

language of work or name

English

0 references

publication date

16 May 2016

1 reference

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1 April 2020

1 reference

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1 April 2020

volume

48

1 reference

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1 April 2020

issue

7

1 reference

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1 April 2020

page(s)

792-797

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1 April 2020

cites work

1 reference

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

21 January 2018

1 reference

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

21 January 2018

1 reference

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

21 January 2018

1 reference

Mutant WD-repeat protein in triple-A syndrome

21 January 2018

1 reference

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

21 January 2018

1 reference

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

21 January 2018

1 reference

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

21 January 2018

1 reference

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.

21 January 2018

1 reference

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

21 January 2018

1 reference

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

21 January 2018

1 reference

Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7

21 January 2018

1 reference

Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes

21 January 2018

1 reference

Myelodysplastic syndrome in children and adolescents.

21 January 2018

1 reference

Aneuploidy as a mechanism for stress-induced liver adaptation.

21 January 2018

1 reference

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

Differential bone marrow aspirate DNA yields from commercial extraction kits

21 January 2018

1 reference

12 December 2020

New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients

1 reference

12 December 2020

Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.

1 reference

12 December 2020

Sterile alpha motif containing domain 9 is involved in death signaling of malignant glioma treated with inactivated Sendai virus particle (HVJ-E) or type I interferon

1 reference

12 December 2020

Radiological evolution in IMAGe association: a case report

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3569

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27182967%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference