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Literature DB >> 9565498

Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

K Devriendt, C Vanhole, G Matthijs, F de Zegher.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1998 PMID： 9565498 DOI： 10.1056/NEJM199804303381817

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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46 in total

1. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.

Authors: D R H de Bruijn; A H A van Dijk; R Pfundt; A Hoischen; G F M Merkx; G A Gradek; H Lybæk; A Stray-Pedersen; H G Brunner; G Houge
Journal: Mol Syndromol Date: 2010-02-12

2. A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Authors: Lisa R Young; Gail H Deutsch; Ronald E Bokulic; Alan S Brody; Lawrence M Nogee
Journal: Chest Date: 2013-10 Impact factor: 9.410

Review 3. The molecular causes of thyroid dysgenesis: a systematic review.

Authors: I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
Journal: J Endocrinol Invest Date: 2013-05-22 Impact factor: 4.256

4. HIF1alpha is essential for normal intrauterine differentiation of alveolar epithelium and surfactant production in the newborn lung of mice.

Authors: Yogesh Saini; Jack R Harkema; John J LaPres
Journal: J Biol Chem Date: 2008-09-18 Impact factor: 5.157

5. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

Authors: Aaron Hamvas; Robin R Deterding; Susan E Wert; Frances V White; Megan K Dishop; Danielle N Alfano; Ann C Halbower; Benjamin Planer; Mark J Stephan; Derek A Uchida; Lee D Williames; Jill A Rosenfeld; Robert Roger Lebel; Lisa R Young; F Sessions Cole; Lawrence M Nogee
Journal: Chest Date: 2013-09 Impact factor: 9.410

Review 6. Resistance to thyrotropin.

Authors: Helmut Grasberger; Samuel Refetoff
Journal: Best Pract Res Clin Endocrinol Metab Date: 2017-03-30 Impact factor: 4.690

Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

1. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.

2. A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Review 3. The molecular causes of thyroid dysgenesis: a systematic review.

4. HIF1alpha is essential for normal intrauterine differentiation of alveolar epithelium and surfactant production in the newborn lung of mice.

5. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

Review 6. Resistance to thyrotropin.

7. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

8. Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.

9. Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Review 10. Interstitial lung diseases in children.