Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1-Reference-Cited by-同舟云学术

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Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1

Published:2012-11-20 Issue:12 Volume:158A Page:3168-3173
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barnett Christopher P.,Mencel Justin J.,Gecz Jozef,Waters Wendy,Kirwin Susan M.,Vinette Kathy M. B,Uppill Miriam,Nicholl Jillian

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Disruption of long-distance highly conserved noncoding elements in neurocristopathies;Amiel;Ann N Y Acad Sci,2010

2. Mutations in TITF-1 are associated with benign hereditary chorea;Breedveld;Hum Mol Genet,2002

3. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by pax8 synergism in one case;Carre;Hum Mol Genet,2009

4. Pendrin is a novel in vivo downstream target gene of the TTF-1/NKX-2.1 homeodomain transcription factor in differentiated thyroid cells;Dentice;Mol Cell Biol,2005

5. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes;Devos;Mov Disord,2006

Cited by 32 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. Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities;American Journal of Medical Genetics Part A;2024-07-23

2. Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis;PLOS ONE;2024-07-11

3. Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders;European Journal of Paediatric Neurology;2024-07

4. NKX2-1-conditioned disorder — «brain–lung–thyroid» syndrome: results of a multicenter study;L.O. Badalyan Neurological Journal;2024-04-27

5. Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants;Clinical Case Reports;2023-06

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