Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

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Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

P2860

Q50050828-77C9C634-4029-4F76-AC61-96EA59CE1035

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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

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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

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

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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2017年论文

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name

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

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label

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

@en

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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

@en

P1476

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

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Andrew Dauber

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Fernando Cassorla

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Howard Saal

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Marjorie C Golekoh

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Michael H Guo

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Paul Kaplowitz

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Paula Ocaranza

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Philippe F Backeljauw

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Ron G Rosenfeld

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Shayne F Andrew

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P2860

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

Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)

Role of insulin-like growth factors in embryonic and postnatal growth

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

Identification of copy number variants from exome sequence data.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

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.

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

Whole exome sequencing to identify genetic causes of short stature

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412-422

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scholarly article

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10.1159/000464143

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English

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P478

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2017-04-10T00:00:00Z

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28395282

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P921

haploinsufficiency

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5509495

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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

about

P2860

P2860

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P921

P932