Novel Mutations in TITF1 Cause Benign Hereditary Chorea, Hypothyroidism and Neonatal Respiratory Distress Syndrome

Meijer I. A.; Michaud J.; Tran L.; Rossignol E.; van Vliet G.; Deladoey J.; Chouinard S.; Bernard G.

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Novel Mutations in TITF1 Cause Benign Hereditary Chorea, Hypothyroidism and Neonatal Respiratory Distress Syndrome

机译：TITF1的新型突变导致良性遗传性舞蹈症，甲状腺功能减退症和新生儿呼吸窘迫综合征

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来源
《Annals of neurology》 |2014年第18期|共2页
作者
Meijer I. A.; Michaud J.; Tran L.; Rossignol E.; van Vliet G.; Deladoey J.; Chouinard S.; Bernard G.;
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正文语种 eng
中图分类神经病学;
关键词
Case studies/case series; Genetics;

机译：案例研究/案例系列;遗传学;

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1. Novel Mutations in TITF1 Cause Benign Hereditary Chorea, Hypothyroidism and Neonatal Respiratory Distress Syndrome [J] . Meijer I. A., Michaud J., Tran L., Annals of neurology . 2014,第Suppla18期

机译：TITF1的新型突变导致良性遗传性舞蹈症，甲状腺功能减退症和新生儿呼吸窘迫综合征
2. Benign hereditary chorea: Phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene [J] . GrasD., JonardL., RozeE., Journal of Neurology, Neurosurgery and Psychiatry . 2012,第10期

机译：良性遗传性舞蹈病：TITF1 / NKX2-1基因发生新突变的大系列中的表型，预后，治疗结果和长期随访
3. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. [J] . do Carmo Costa M, Costa C, Silva AP, Neurogenetics . 2005,第4期

机译：葡萄牙家庭中良性遗传性舞蹈病的TITF1的无意义突变。
4. ATR based Infrared Spectroscopy for the Diagnosis of Neonatal Respiratory Distress Syndrome [C] . Waseem Ahmed, Aneesh Vincent Veluthandath, Jens Madsen, Conference on Optical Diagnostics and Sensing: Toward Point-of-Care Diagnostics . 2021

机译：基于ATR的红外光谱，用于诊断新生儿呼吸窘迫综合征
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia Benign Hereditary Chorea Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature [O] . Liana Veneziano, Michael H. Parkinson, Elide Mantuano, -1

机译：TITF1 / NKX2-1基因的新型De Novo突变引起英国家庭的共济失调良性遗传性舞蹈病甲状腺功能减退和垂体肿块并复习文献
7. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress [O] . Moya, Christian M., Santisteban, Pilar 2006

机译：TITF1 / NKX2.1同源盒基因中一个新的单一缺失的功能研究，该基因产生先天性甲状腺功能减退症和良性舞蹈症，但不引起肺部不适

Novel Mutations in TITF1 Cause Benign Hereditary Chorea, Hypothyroidism and Neonatal Respiratory Distress Syndrome

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