PubMed for id: 1631916

Year	Number of Results
1993	1
1996	1
2011	1
2014	1
2015	1
2018	2
2020	3
2021	1
2024	0

1

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio MC, Dallapiccola B. Dentici ML, et al. Clin Genet. 2018 Jun;93(6):1223-1228. doi: 10.1111/cge.13232. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29427453

2

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H. Isrie M, et al. Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014. Am J Hum Genet. 2015. PMID: 26637975 Free PMC article.

3

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

Wouters L, Rodriguez Rodriguez CM, Dapena EP, Poorten VV, Devriendt K, Van Esch H. Wouters L, et al. Eur J Med Genet. 2011 May-Jun;54(3):236-40. doi: 10.1016/j.ejmg.2011.01.003. Epub 2011 Jan 22. Eur J Med Genet. 2011. PMID: 21262397

4

Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.

Li D, Shen KM, Zackai EH, Bhoj EJ. Li D, et al. Am J Med Genet A. 2020 Dec;182(12):3035-3039. doi: 10.1002/ajmg.a.61897. Epub 2020 Oct 5. Am J Med Genet A. 2020. PMID: 33016642

5

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Sferra A, Petrini S, Bellacchio E, Nicita F, Scibelli F, Dentici ML, Alfieri P, Cestra G, Bertini ES, Zanni G. Sferra A, et al. Int J Mol Sci. 2020 Feb 18;21(4):1385. doi: 10.3390/ijms21041385. Int J Mol Sci. 2020. PMID: 32085672 Free PMC article.

6

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.

Feng J, Lan X, Shen J, Song X, Tang X, Xu W, Ren X, Zhang H, Yu G, Wu S. Feng J, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1096. doi: 10.1002/mgg3.1096. Epub 2020 Jan 5. Mol Genet Genomic Med. 2020. PMID: 31903734 Free PMC article.

7

A Rare Case of Michelin Tire Baby Syndrome in a Newborn.

Ramphul K, Mejias SG, Ramphul-Sicharam Y. Ramphul K, et al. Cureus. 2018 Feb 24;10(2):e2222. doi: 10.7759/cureus.2222. Cureus. 2018. PMID: 29696100 Free PMC article.

8

New described dermatological disorders.

Gönül M, Cevirgen Cemil B, Keseroglu HO, Kaya Akis H. Gönül M, et al. Biomed Res Int. 2014;2014:616973. doi: 10.1155/2014/616973. Epub 2014 Aug 28. Biomed Res Int. 2014. PMID: 25243162 Free PMC article. Review.

9

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.

Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H. Watanabe K, et al. J Hum Genet. 2021 Dec;66(12):1193-1197. doi: 10.1038/s10038-021-00956-4. Epub 2021 Jul 1. J Hum Genet. 2021. PMID: 34211110 Review.

10

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.

Elliott AM, Ludman M, Teebi AS. Elliott AM, et al. Am J Med Genet. 1996 Mar 1;62(1):23-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<23::AID-AJMG5>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8779319

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

11 results

Results by year