(Q28587547)

English

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly

scientific journal article

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scholarly article

1 reference

PubMed publication ID

31 January 2017

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly (English)

1 reference

PubMed publication ID

31 January 2017

Coiled-coil domain containing 78

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GOA release 2020-03-11

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based on heuristic

inferred from title

Nadezda Maksimova

object named as

Nadezda Maksimova

1

0 references

object named as

Osamu Onodera

17

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author name string

Kenju Hara

2

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PubMed publication ID

31 January 2017

Irina Nikolaeva

3

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31 January 2017

Tan Chun-Feng

4

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PubMed publication ID

31 January 2017

Tomoaki Usui

5

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PubMed publication ID

31 January 2017

Mineo Takagi

6

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31 January 2017

Yasushi Nishihira

7

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PubMed publication ID

31 January 2017

Akinori Miyashita

8

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PubMed publication ID

31 January 2017

Hiroshi Fujiwara

9

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PubMed publication ID

31 January 2017

Tokuhide Oyama

10

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PubMed publication ID

31 January 2017

Anna Nogovicina

11

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PubMed publication ID

31 January 2017

Aitalina Sukhomyasova

12

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PubMed publication ID

31 January 2017

Svetlana Potapova

13

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31 January 2017

Ryozo Kuwano

14

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31 January 2017

Hitoshi Takahashi

15

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31 January 2017

Masatoyo Nishizawa

16

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PubMed publication ID

31 January 2017

language of work or name

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publication date

1 August 2010

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PubMed publication ID

31 January 2017

Journal of Medical Genetics

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PubMed publication ID

31 January 2017

47

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PubMed publication ID

31 January 2017

8

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31 January 2017

538–548

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PubMed publication ID

31 January 2017

Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

Dsl1p, Tip20p, and the novel Dsl3(Sec39) protein are required for the stability of the Q/t-SNARE complex at the endoplasmic reticulum in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

Exploration of essential gene functions via titratable promoter alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

6 April 2017

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

17 March 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

7 April 2017

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

The granulocyte nucleus and lamin B receptor: avoiding the ovoid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

3-M syndrome: a report of three Egyptian cases with review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

Identification of mutations in CUL7 in 3-M syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

The cone dysfunction syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

A review of primary hereditary optic neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

Genetics of population isolates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

3-M syndrome: description of six new patients with review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

Use of population isolates for mapping complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

The 3-M syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

Further delineation of the 3-M syndrome with review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

The 3-M syndrome: a heritable low birthweight dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

29 September 2017

3-M syndrome in two sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

3 June 2018

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

The neuroblastoma amplified gene, NAG : genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

3-M syndrome: a prenatal ultrasonographic diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

3-M slender-boned nanism. An intrauterine growth retardation syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921285

27 November 2018

Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20577004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20577004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20577004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20577004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new familial intrauterine growth retardation syndrome the "3-M syndrome"

1 reference

https://pubmed.ncbi.nlm.nih.gov/20577004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2009.074815

1 reference

PubMed publication ID

31 January 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

PubMed publication ID

31 January 2017

ResearchGate publication ID

0 references

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