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brain-lung-thyroid syndrome相关文献:
A case of brain-lung-thyroid syndrome.
Liang R, Ou S, Ding Y, Liu C.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Mar 28;47(3):396-400. doi: 10.11817/j.issn.1672-7347.2022.200998.
PMID:35545334
[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].
Villamil-Osorio M, Yunis LK, Quintero L, Restrepo-Gualteros S, Yunis JJ, Jaramillo L, Agudelo BI, Ladino Y.
Andes Pediatr. 2021 Dec;92(6):930-936. doi: 10.32641/andespediatr.v92i6.3287. Epub 2021 Nov 5.
PMID:35506806
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Ediger K, Hicks A, Siriwardena K, Joynt C.
BMJ Case Rep. 2021 Mar 31;14(3):e241032. doi: 10.1136/bcr-2020-241032.
PMID:33789861
[Brain-lung-thyroid syndrome report of two cases].
Chen JH, Zheng YJ.
Zhonghua Er Ke Za Zhi. 2020 Oct 2;58(10):847-849. doi: 10.3760/cma.j.cn112140-20200118-00039.
PMID:32987468
NKX2-1-Related Disorders.
Patel NJ, Jankovic J.
2014 Feb 20 [updated 2023 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:24555207
NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.
Cavaliere E, Gortan AJ, Passon N, Fabbro D, Marin D, Carecchio M, Baldan F, Credendino SC, Gallo R, Cogo P, Damante G, De Vita G.
Clin Genet. 2021 Jul;100(1):114-116. doi: 10.1111/cge.13961. Epub 2021 Mar 29.
PMID:33778944
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
Kharbanda M, Hermanns P, Jones J, Pohlenz J, Horrocks I, Donaldson M.
Eur J Med Genet. 2017 May;60(5):257-260. doi: 10.1016/j.ejmg.2017.03.001. Epub 2017 Mar 7.
PMID:28286255
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction.
Prasad R, Nicholas AK, Schoenmakers N, Barton J.
Horm Res Paediatr. 2019;92(5):340-344. doi: 10.1159/000503683. Epub 2019 Nov 8.
PMID:31707387
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations.
Parnes M, Bashir H, Jankovic J.
Mov Disord Clin Pract. 2018 Nov 9;6(1):34-39. doi: 10.1002/mdc3.12690. eCollection 2019 Jan.
PMID:30746413
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.
Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S.
J Neurol Sci. 2012 Apr 15;315(1-2):77-81. doi: 10.1016/j.jns.2011.11.025. Epub 2011 Dec 12.
PMID:22166853
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