Collagenopathy with a phenotype resembling silver-russell syndrome phenotype-Reference-Cited by-同舟云学术

Collagenopathy with a phenotype resembling silver-russell syndrome phenotype

Published:2013-07 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cianci Paola¹,Paterlini Giuseppe²,Tagliabue Paolo²,Verderio Maria³,Vergani Patrizia³,Bianchi Maria Luisa⁴,Giussani Carlo⁵,Kullmann Gaia⁶,Mazzoleni Fabio⁷,Bozzetti Alberto⁷,Selicorni Angelo¹

Affiliation:

1. Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit; San Gerardo Hospital; Monza; Italy

2. Pediatric Department at MBBM Foundation, Neonatal Intensive Care Unit; San Gerardo Hospital; Monza; Italy

3. Obstetrics and Gynecology Department at MBBM Foundation; San Gerardo Hospital; Monza; Italy

4. Bone Metabolism Unit, Istituto Auxologico Italiano; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Milano; Italy

5. Neuroscience and Biomedical Technology Department, Neurosurgery Unit; University of Milano Bicocca, San Gerardo Hospital; Monza; Italy

6. Childhood Neuropsychiatry Department; University of Milano-Bicocca, San Gerardo Hospital; Monza; Italy

7. Maxillofacial Surgery Department; University of Milano-Bicocca, San Gerardo Hospital; Monza; Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36093/fullpdf

Reference6 articles.

1. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes;Bartholdi;J Med Genet,2009

2. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta;Ben Amor;J Osteoporos,2011

3. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies;Bruce;J Clin Endocrinol Metab,2009

4. Severe Silver-Russell syndrome;Donnai;J Med Genet,1989

5. Type 1 collagenopathy presenting with a Russell-Silver phenotype;Parker;Am J Med Genet Part A,2011

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1 : Implication of expanded phenotypic spectrum of type I collagenopathy;Brain and Development;2017-10

2. Diagnosis and management of Silver–Russell syndrome: first international consensus statement;Nature Reviews Endocrinology;2016-09-02

3. CRTAPmutation in a patient with Cole-Carpenter syndrome;American Journal of Medical Genetics Part A;2015-01-21