PubMed (cited) for id: 609528

Year	Number of Results
2005	1
2009	1
2011	1
2015	1
2017	1
2019	1
2021	1
2022	1
2024	0

1

CEDNIK syndrome with phenotypic variability.

Nanda A, Karam TM, AlLafi A. Nanda A, et al. Pediatr Dermatol. 2022 Jul;39(4):650-652. doi: 10.1111/pde.14961. Epub 2022 Mar 1. Pediatr Dermatol. 2022. PMID: 35229899

2

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Mah-Som AY, Skrypnyk C, Guerin A, Seroor Jadah RH, Vardhan VN, McKinstry RC, Shinawi MS. Mah-Som AY, et al. Neurol Genet. 2021 Jan 12;7(1):e553. doi: 10.1212/NXG.0000000000000553. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977139 Free PMC article.

3

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. Llaci L, et al. Hum Genet. 2019 Dec;138(11-12):1409-1417. doi: 10.1007/s00439-019-02077-7. Epub 2019 Nov 20. Hum Genet. 2019. PMID: 31748968

4

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

Diggle CP, Martinez-Garay I, Molnar Z, Brinkworth MH, White E, Fowler E, Hughes R, Hayward BE, Carr IM, Watson CM, Crinnion L, Asipu A, Woodman B, Coletta PL, Markham AF, Dear TN, Bonthron DT, Peckham M, Morrison EE, Sheridan E. Diggle CP, et al. PLoS One. 2017 Apr 7;12(4):e0174264. doi: 10.1371/journal.pone.0174264. eCollection 2017. PLoS One. 2017. PMID: 28388629 Free PMC article.

5

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

Ben-Salem S, Nara S, Al-Shamsi AM, Valle D, Ali BR, Al-Gazali L. Ben-Salem S, et al. J Dermatol. 2015 Aug;42(8):821-2. doi: 10.1111/1346-8138.12917. Epub 2015 May 11. J Dermatol. 2015. PMID: 25958742 Free PMC article. No abstract available.

6

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E. Fuchs-Telem D, et al. Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17. Br J Dermatol. 2011. PMID: 21073448

7

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. Abdollahi MR, et al. Am J Hum Genet. 2009 Nov;85(5):737-44. doi: 10.1016/j.ajhg.2009.10.007. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896110 Free PMC article.

8

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.

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