Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations-Reference-Cited by-同舟云学术

Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations

Published:2005 Issue:3 Volume:206 Page:253-259
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Kawakami Takako¹,Mitsui Tetsuo¹,Kanai Masayo¹,Shirahata Emi¹,Sendo Dai¹,Kanno Miyako¹,Noro Mizuka¹,Endoh Mikiya²,Hama Asahito³,Tono Chikako⁴,Ito Etsuro⁴,Tsuchiya Shigeru⁵,Igarashi Yutaka⁶,Abukawa Daiki⁷,Hayasaka Kiyoshi¹

Affiliation:

1. Department of Pediatrics, Yamagata University School of Medicine

2. Department of Pediatrics, Iwate Medical University

3. Department of Pediatrics, Nagoya University School of Medicine

4. Department of Pediatrics, Hirosaki University School of Medicine

5. Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University

6. Igarashi Pediatric Clinic

7. Department of General Pediatrics, Miyagi Children's Hospital

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.jstage.jst.go.jp/article/tjem/206/3/206_3_253/_pdf

Reference17 articles.

1. Mutations in SBDS are associated with Shwachman–Diamond syndrome

2. Analysis of canonical and non-canonical splice sites in mammalian genomes

3. Shwachman-Diamond Syndrome

4. Nomenclature for the description of human sequence variations

5. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

Cited by 25 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. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene;Genes;2022-07-23

2. Shwachman-Bodian-Diamond syndrome protein desensitizes breast cancer cells to apoptosis in stiff matrices by repressing the caspase 8-mediated pathway;Animal Cells and Systems;2019-09-20

3. Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia;Leukemia Research Reports;2018

4. Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia;Clinical Case Reports;2017-12-05

5. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism;Journal of Pediatric Endocrinology and Metabolism;2016-01-18