(Q41929793)

14 October 2017

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment (English)

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14 October 2017

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Matias Juanes

1

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14 October 2017

Gabriela Guercio

2

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14 October 2017

Roxana Marino

3

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14 October 2017

Esperanza Berensztein

4

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14 October 2017

Diana Mónica Warman

5

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14 October 2017

Marta Ciaccio

6

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14 October 2017

Silvia Gil

7

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14 October 2017

Marcela Bailez

8

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14 October 2017

Marco A Rivarola

9

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14 October 2017

Alicia Belgorosky

10

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14 October 2017

7 August 2014

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14 October 2017

8

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based on heuristic

inferred from page(s)

published in

Clinical Endocrinology

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14 October 2017

82

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14 October 2017

704-711

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14 October 2017

5

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Structure and function of the type 1 insulin-like growth factor receptor.

14 October 2017

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Molecular and cellular aspects of the insulin-like growth factor I receptor

21 January 2018

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Genetic disorders in the GH IGF-I axis in mouse and man.

21 January 2018

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Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene

21 January 2018

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International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001.

21 January 2018

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IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

21 January 2018

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Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

21 January 2018

1 reference

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

21 January 2018

1 reference

A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization

21 January 2018

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Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay

21 January 2018

1 reference

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

21 January 2018

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Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

21 January 2018

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Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure

21 January 2018

1 reference

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.

21 January 2018

1 reference

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene

21 January 2018

1 reference

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).

21 January 2018

1 reference

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

21 January 2018

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Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation

21 January 2018

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Cut-off values of serum growth hormone (GH) in pharmacological stimulation tests (PhT) evaluated in short-statured children using a chemiluminescent immunometric assay (ICMA) calibrated with the International Recombinant Human GH Standard 98/57

21 January 2018

1 reference

Diagnostic criteria for diabetes mellitus and other categories of glucose intolerance: 1997 criteria by the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (ADA), 1998 WHO consultation criteria, and 1985 WHO criteria. World

21 January 2018

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IGF1R mutations as cause of SGA.

21 January 2018

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Expanding the mind: insulin-like growth factor I and brain development

21 January 2018

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Head circumference in untreated and IGF-I treated patients with Laron syndrome: comparison with untreated and hGH-treated children with isolated growth hormone deficiency

21 January 2018

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Craniofacial and brain abnormalities in Laron syndrome (primary growth hormone insensitivity).

21 January 2018

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IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.

21 January 2018

1 reference

Single gene mutations causing SGA.

21 January 2018

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Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEN.12555

1 reference

14 October 2017

1 reference