Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion).

Suppr

超能文献

作者信息

Segni Maria, Zimmerman Donald

出版信息

Eur J Pediatr. 2002 Apr;161(4):233-4. doi: 10.1007/s00431-001-0900-x.

DOI:10.1007/s00431-001-0900-x

PMID:12014397

Abstract

摘要

相似文献

Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion).

Eur J Pediatr. 2002 Apr;161(4):233-4. doi: 10.1007/s00431-001-0900-x.

DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.

Adv Exp Med Biol. 2007;601:37-49. doi: 10.1007/978-0-387-72005-0_4.

Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion.

J Pediatr Endocrinol Metab. 2004 Nov;17(11):1575-9. doi: 10.1515/jpem.2004.17.11.1575.

Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

Immunol Allergy Clin North Am. 2008 May;28(2):353-66. doi: 10.1016/j.iac.2008.01.003.

Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome.

J Pediatr. 1997 Sep;131(3):484-6. doi: 10.1016/s0022-3476(97)80085-6.

[Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome].

Ugeskr Laeger. 2000 Jul 31;162(31):4169-70.

DiGeorge syndrome: clinical variability in a family with submicroscopic deletion at 22q11.2.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Jan-Feb;38(1):52-6.

CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.

J Formos Med Assoc. 1997 Jun;96(6):419-23.

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

Am J Hum Genet. 1999 Jul;65(1):247-9. doi: 10.1086/302468.

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

J Med Genet. 1993 Oct;30(10):813-7. doi: 10.1136/jmg.30.10.813.

引用本文的文献

Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age.

Genes (Basel). 2021 Feb 4;12(2):222. doi: 10.3390/genes12020222.

本文引用的文献

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.

J Med Genet. 1998 Nov;35(11):943-7. doi: 10.1136/jmg.35.11.943.

Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.

Clin Immunol Immunopathol. 1998 Feb;86(2):141-6. doi: 10.1006/clin.1997.4463.

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.

Eur J Pediatr. 1998 Jan;157(1):34-8. doi: 10.1007/s004310050762.

Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome.

Isr J Med Sci. 1994 Jul;30(7):530-2.

DiGeorge syndrome: long-term survival complicated by Graves disease.

J Pediatr. 1985 Apr;106(4):619-20. doi: 10.1016/s0022-3476(85)80087-1.

The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder.

Eur J Pediatr. 1989 Nov;149(2):96-103. doi: 10.1007/BF01995856.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验