(Q75398570)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14759073%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

title

TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism (English)

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18 November 2019

13

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18 November 2019

author name string

M Tonacchera

1

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18 November 2019

A Perri

2

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18 November 2019

G De Marco

3

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18 November 2019

P Agretti

4

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18 November 2019

L Montanelli

5

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18 November 2019

M E Banco

6

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18 November 2019

A Corrias

7

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18 November 2019

J Bellone

8

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18 November 2019

M T Tosi

9

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18 November 2019

P Vitti

10

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18 November 2019

E Martino

11

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18 November 2019

A Pinchera

12

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18 November 2019

publication date

1 October 2003

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Journal of Endocrinological Investigation

18 November 2019

published in

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18 November 2019

volume

26

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18 November 2019

issue

10

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18 November 2019

page(s)

997-1000

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https://scigraph.springernature.com/pub.10.1007/bf03348198

18 November 2019

exact match

0 references

cites work

Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene

1 reference

12 December 2020

1 reference

12 December 2020

Natural course of subclinical hypothyroidism in Down's syndrome: prospective study results and therapeutic considerations

1 reference

12 December 2020

Plasma thyrotropin bioactivity in Down's syndrome children with subclinical hypothyroidism.

1 reference

12 December 2020

Familial unresponsiveness to thyrotropin by autosomal recessive inheritance

1 reference

12 December 2020

A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

1 reference

12 December 2020

A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism

1 reference

12 December 2020

A five-year longitudinal study of thyroid function in children with Down syndrome.

1 reference

12 December 2020

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism

1 reference

12 December 2020

Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity

1 reference

12 December 2020

Thyroid dysfunction in children with Down's syndrome

1 reference

12 December 2020

Molecular insights into TSH receptor abnormality and thyroid disease

1 reference

12 December 2020

Growth studies in infants and children with Down's syndrome and elevated levels of thyrotropin.

1 reference

12 December 2020

Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH

1 reference

12 December 2020

Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor

1 reference

12 December 2020

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

1 reference

12 December 2020

Four families with loss of function mutations of the thyrotropin receptor

1 reference

12 December 2020

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

1 reference

12 December 2020

Abnormalities of thyroid function in infants with Down syndrome

1 reference

12 December 2020

Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

1 reference

12 December 2020

Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

1 reference

12 December 2020

Down's syndrome and the thyroid

1 reference

12 December 2020

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor

1 reference

12 December 2020

Maturation of human hypothalamic-pituitary-thyroid function and control

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03348198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14759073%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 November 2019

0 references

1 reference