(Q28279078)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23143598%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement (English)

1 reference

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17 February 2020

1

1 reference

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17 February 2020

Nadia Schoenmakers

3

1 reference

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17 February 2020

Paul Le Tissier

9

1 reference

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Juan Pedro Martinez-Barbera

17 February 2020

11

1 reference

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17 February 2020

Luca Persani

15

1 reference

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17 February 2020

Irene Campi

16

1 reference

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17 February 2020

Marco Bonomi

17

1 reference

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17 February 2020

Timothy M Davis

20

1 reference

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17 February 2020

Jeroen Laros

25

1 reference

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17 February 2020

Alberto M Pereira

33

1 reference

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17 February 2020

Michael G. Wade

35

1 reference

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17 February 2020

18

Paolo Beck-Peccoz

1 reference

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17 February 2020

27

Sarina G Kant

1 reference

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17 February 2020

21

Anita C S Hokken-Koelega

1 reference

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17 February 2020

39

Mehul T Dattani

1 reference

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17 February 2020

6

Peter Voshol

1 reference

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17 February 2020

29

Nienke R Biermasz

1 reference

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17 February 2020

author name string

Beata Bak

2

1 reference

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17 February 2020

A S Paul van Trotsenburg

4

1 reference

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17 February 2020

Wilma Oostdijk

5

1 reference

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17 February 2020

Emma Cambridge

7

1 reference

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17 February 2020

Jacqueline K White

8

1 reference

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17 February 2020

S Neda Mousavy Gharavy

10

1 reference

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17 February 2020

Wilhelmina H Stokvis-Brantsma

12

1 reference

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17 February 2020

Thomas Vulsma

13

1 reference

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17 February 2020

Marlies J Kempers

14

1 reference

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17 February 2020

Hongdong Zhu

19

1 reference

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17 February 2020

Daria Gorbenko Del Blanco

22

1 reference

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17 February 2020

Jayanti J Rangasami

23

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17 February 2020

Claudia A L Ruivenkamp

24

1 reference

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17 February 2020

Marjolein Kriek

26

1 reference

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17 February 2020

Cathy A J Bosch

28

1 reference

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17 February 2020

Natasha M Appelman-Dijkstra

30

1 reference

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17 February 2020

Eleonora P Corssmit

31

1 reference

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17 February 2020

Guido C J Hovens

32

1 reference

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17 February 2020

Johan T den Dunnen

34

1 reference

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17 February 2020

Martijn H Breuning

36

1 reference

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17 February 2020

Raoul C Hennekam

37

1 reference

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17 February 2020

Krishna Chatterjee

38

1 reference

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17 February 2020

Jan M Wit

40

1 reference

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17 February 2020

Daniel J Bernard

41

1 reference

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17 February 2020

language of work or name

English

0 references

publication date

11 November 2012

1 reference

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17 February 2020

1 reference

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17 February 2020

volume

44

1 reference

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17 February 2020

issue

12

1 reference

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17 February 2020

page(s)

1375-1381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23143598%20AND%20SRC:MED&resulttype=core&format=json

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

17 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

A gene atlas of the mouse and human protein-encoding transcriptomes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Normal reproductive function in InhBP/p120-deficient mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP)

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone

24 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Inhibin binding protein in rats: alternative transcripts and regulation in the pituitary across the estrous cycle

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Fast and SNP-tolerant detection of complex variants and splicing in short reads

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Twenty-five years of quantitative PCR for gene expression analysis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

An evaluation of the thyrotrophin-releasing hormone stimulation test in paediatric clinical practice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Both SMAD2 and SMAD3 mediate activin-stimulated expression of the follicle-stimulating hormone beta subunit in mouse gonadotrope cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Structure and expression of a membrane component of the inhibin receptor system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Cross sectional stature and weight reference curves for the UK, 1990.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Pituitary homeobox 1 (Ptx1) is differentially expressed during pituitary development.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Plasma thyrotropin response to thyrotropin-releasing hormone in patients with pituitary and hypothalamic disorders.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Reference intervals from birth to adulthood for serum thyroxine (T4), triiodothyronine (T3), free T3, free T4, thyroxine binding globulin (TBG) and thyrotropin (TSH).

20 June 2018

1 reference

Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children

21 January 2018

1 reference

Modulation of Activin Signal Transduction by Inhibin B and Inhibin-Binding Protein (InhBP)

21 January 2018

1 reference

Centiles of body mass index for Dutch children aged 0-20 years in 1980--a baseline to assess recent trends in obesity

21 January 2018

1 reference

Circulating thyrotropin bioactivity in sporadic central hypothyroidism.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511587

Pubertal Development in The Netherlands 1965–1997

27 November 2018

1 reference

12 December 2020

Diagnosis of subclinical central hypothyroidism in patients with hypothalamic-pituitary disease by Doppler echocardiography

1 reference

12 December 2020

17-hydroxyprogesterone, androstenedione, and testosterone in normal children and in prepubertal patients with congenital adrenal hyperplasia

1 reference

12 December 2020

The beneficial effect of L-thyroxine on cardiovascular risk factors, endothelial function, and quality of life in subclinical hypothyroidism: randomized, crossover trial

1 reference

12 December 2020

Impact of subclinical thyroid disorders on coronary heart disease, cardiovascular and all-cause mortality: a meta-analysis

1 reference

12 December 2020

Normative values for testicular volume measured by ultrasonography in a normal population from infancy to adolescence

1 reference

12 December 2020

Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones

1 reference

12 December 2020

Continuing Positive Secular Growth Change in the Netherlands 1955–1997

1 reference

12 December 2020

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30 July 2022

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30 July 2022

OpenCitations bibliographic resource ID

2330176

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

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30 July 2022

https://api.fatcat.wiki/v0/release/lj2vhzi2jnf33kfz6vmidxqlpi

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30 July 2022