(Q24643797)

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Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

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Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (English)

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1 reference

based on heuristic

inferred from title

Fowzan S Alkuraya

20

object named as

Fowzan S Alkuraya

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Kailash Phatechand Bhatia

14

object named as

Kailash P Bhatia

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Christopher A. Walsh

17

object named as

Christopher A Walsh

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12

object named as

Borut Peterlin

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author name string

Anas M Alazami

1

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Amr Al-Saif

2

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Abdulaziz Al-Semari

3

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Saeed Bohlega

4

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Soumaya Zlitni

5

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Fatema Alzahrani

6

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Prashant Bavi

7

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Namik Kaya

8

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Dilek Colak

9

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Hanif Khalak

10

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Andy Baltus

11

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Sumita Danda

13

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Susanne A Schneider

15

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Nadia Sakati

16

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Futwan Al-Mohanna

18

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Brian Meyer

19

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language of work or name

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publication date

December 2008

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American Journal of Human Genetics

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83

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6

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684-91

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The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

7 April 2017

Isolation and characterization of a new nucleolar protein, Nrap, that is conserved from yeast to humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

7 April 2017

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

7 April 2017

The multifunctional nucleolus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

7 April 2017

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Three siblings with Woodhouse-Sakati syndrome in an Indian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Woodhouse-Sakati syndrome: case report and symptoms review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Nucleophosmin is a novel Bax chaperone that regulates apoptotic cell death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Initiation of nucleolar assembly is independent of RNA polymerase I transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

27 September 2017

Nucleologenesis: composition and fate of prenucleolar bodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

30 May 2018

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668059

28 November 2018

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026396

12 December 2020

based on heuristic

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Identifiers

10.1016/J.AJHG.2008.10.018

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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