Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.

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IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.

P2860

Q55122045-198D5223-D231-4EF7-B117-AD1C3AB610D4

P2860

Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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name

Response to Growth Hormone Tre ...... r 1 Receptor (IGF1R) Deletion.

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Response to Growth Hormone Tre ...... r 1 Receptor (IGF1R) Deletion.

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Response to Growth Hormone Tre ...... r 1 Receptor (IGF1R) Deletion.

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P1476

Response to Growth Hormone Tre ...... r 1 Receptor (IGF1R) Deletion.

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Ajanta Naidu

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Hiba Risheg

http://www.w3.org/2001/XMLSchema#string

Ranim Mahmoud

http://www.w3.org/2001/XMLSchema#string

Virginia Kimonis

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P2860

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.

An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

Familial short stature with IGF-I receptor gene anomaly.

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

Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

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

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

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

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

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380-386

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scholarly article

case report

P356

10.4274/JCRPE.4456

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2017-07-17T00:00:00Z

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28720553

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5785648

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Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.

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P2860

P2860

Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.

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P1433

P1476

P2093

P2860

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P356

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P2860

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P31

P356

P433

P478

P577

P698

P932