Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome-Reference-Cited by-同舟云学术

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

Published:2014-11-08 Issue:3 Volume:88 Page:261-266
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ohtsuka Y.¹,Higashimoto K.¹,Sasaki K.²,Jozaki K.¹,Yoshinaga H.¹,Okamoto N.³,Takama Y.⁴,Kubota A.⁴,Nakayama M.⁵,Yatsuki H.¹,Nishioka K.¹,Joh K.¹,Mukai T.⁶,Yoshiura K.-i.²,Soejima H.¹

Affiliation:

1. Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine; Saga University; Saga Japan

2. Department of Human Genetics; Nagasaki University Graduate School of Biomedical Sciences; Nagasaki Japan

3. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

4. Department of Pediatric Surgery; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

5. Department of Pathology; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

6. Nishikyushu University; Saga Japan

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labor, and Welfare

National Center for Child Health and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Molecular findings in Beckwith-Wiedemann syndrome;Choufani;Am J Med Genet C Semin Med Genet,2013

2. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders;Soejima;J Hum Genet,2013

3. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques;Romanelli;Eur J Hum Genet,2011

4. Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes;Yamazawa;J Hum Genet,2011

5. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients;Barbosa;Clin Genet,2012

Cited by 14 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. Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping;Genes;2024-07-19

2. Morphometric Measurements of Intraoral Anatomy in Children with Beckwith-Wiedemann Syndrome: A Prospective Study and Novel Approach;2024-06-04

3. Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes;Prenatal Diagnosis;2024-04

4. Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome;Cancers;2022-11-12

5. Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome;Expert Review of Endocrinology & Metabolism;2022-11-02