Similar articles for PMID: 32969855

Year	Number of Results
1944	1
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1987	3
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2019	7
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2024	0

1

A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.

Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. Meriç R, et al. Clin Dysmorphol. 2021 Jan;30(1):54-57. doi: 10.1097/MCD.0000000000000350. Clin Dysmorphol. 2021. PMID: 32969855 No abstract available.

2

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Boyden LM, et al. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630788 Free PMC article.

3

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.

Klee KMC, Janecke AR, Civan HA, Rosipal Š, Heinz-Erian P, Huber LA, Müller T, Vogel GF. Klee KMC, et al. Hum Genet. 2020 Oct;139(10):1247-1259. doi: 10.1007/s00439-020-02168-w. Epub 2020 Apr 18. Hum Genet. 2020. PMID: 32306098 Free PMC article.

4

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.

Faghihi F, Khamirani HJ, Zoghi S, Kamal N, Yeganeh BS, Dianatpour M, Bagher Tabei SM, Dastgheib SA. Faghihi F, et al. Eur J Med Genet. 2022 Mar;65(3):104449. doi: 10.1016/j.ejmg.2022.104449. Epub 2022 Feb 7. Eur J Med Genet. 2022. PMID: 35144013 Review.

5

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS. Alsaif HS, et al. Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630791 Free PMC article.

6

MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.

Incecik F, Bisgin A, Yılmaz M. Incecik F, et al. Metab Brain Dis. 2018 Dec;33(6):2065-2068. doi: 10.1007/s11011-018-0313-4. Epub 2018 Sep 23. Metab Brain Dis. 2018. PMID: 30244301 Review.

7

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Low KJ, Hills A, Williams M, Duff-Farrier C, McKee S, Smithson SF. Low KJ, et al. Am J Med Genet A. 2017 Oct;173(10):2844-2846. doi: 10.1002/ajmg.a.38397. Epub 2017 Aug 17. Am J Med Genet A. 2017. PMID: 28815928 No abstract available.

8

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

Kabzińska D, Mierzewska H, Senderek J, Kochański A. Kabzińska D, et al. Folia Neuropathol. 2016;54(3):273-281. doi: 10.5114/fn.2016.62537. Folia Neuropathol. 2016. PMID: 27764520 Free article.

9

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.

Vornweg J, Gläser S, Ahmad-Anwar M, Zimmer AD, Kuhn M, Hörer S, Korenke GC, Grothaus J, Ott H, Fischer J. Vornweg J, et al. Br J Dermatol. 2021 Jun;184(6):1190-1192. doi: 10.1111/bjd.19815. Epub 2021 Mar 3. Br J Dermatol. 2021. PMID: 33452671 No abstract available.

10

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.

Ito Y, Takeichi T, Igari S, Mori T, Ono A, Suyama K, Takeuchi S, Muro Y, Ogi T, Hosoya M, Yamamoto T, Akiyama M. Ito Y, et al. J Eur Acad Dermatol Venereol. 2021 May;35(5):e345-e347. doi: 10.1111/jdv.17098. Epub 2021 Jan 6. J Eur Acad Dermatol Venereol. 2021. PMID: 33349978 No abstract available.

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