PubMed for id: 766496

Year	Number of Results
1976	1
1993	1
1995	1
2003	1
2004	1
2008	1
2009	2
2010	3
2011	2
2013	2
2014	1
2015	2
2016	1
2017	1
2020	2
2021	1
2022	2
2023	2
2024	0

1

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G. Pekkola Pacheco N, et al. Am J Med Genet A. 2023 Jul;191(7):1929-1934. doi: 10.1002/ajmg.a.63200. Epub 2023 Apr 5. Am J Med Genet A. 2023. PMID: 37017437

2

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS. Batool T, et al. J Hum Genet. 2023 Jul;68(7):469-475. doi: 10.1038/s10038-023-01132-6. Epub 2023 Mar 3. J Hum Genet. 2023. PMID: 36864288

3

Hydranencephaly in CENPJ-related Seckel syndrome.

Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884

4

Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.

Hamada N, Iwamoto I, Noda M, Nishikawa M, Nagata KI. Hamada N, et al. Dev Neurosci. 2022;44(6):643-650. doi: 10.1159/000526914. Epub 2022 Sep 6. Dev Neurosci. 2022. PMID: 36067731

5

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Makhdoom EUH, Waseem SS, Iqbal M, Abdullah U, Hussain G, Asif M, Budde B, Höhne W, Tinschert S, Saadi SM, Yousaf H, Ali Z, Fatima A, Kaygusuz E, Khan A, Jameel M, Khan S, Tariq M, Anjum I, Altmüller J, Thiele H, Höning S, Baig SM, Nürnberg P, Hussain MS. Makhdoom EUH, et al. Genes (Basel). 2021 May 13;12(5):731. doi: 10.3390/genes12050731. Genes (Basel). 2021. PMID: 34068194 Free PMC article.

6

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.

Martín-Rivada Á, Pozo-Román J, Güemes M, Ortiz-Cabrera NV, Pérez-Jurado LA, Argente J. Martín-Rivada Á, et al. Horm Res Paediatr. 2020;93(9-10):567-572. doi: 10.1159/000514280. Epub 2021 Mar 23. Horm Res Paediatr. 2020. PMID: 33756487

7

Limiting homologous recombination at stalled replication forks is essential for cell viability: DNA2 to the rescue.

Appanah R, Jones D, Falquet B, Rass U. Appanah R, et al. Curr Genet. 2020 Dec;66(6):1085-1092. doi: 10.1007/s00294-020-01106-7. Epub 2020 Sep 9. Curr Genet. 2020. PMID: 32909097 Free PMC article. Review.

8

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.

Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M. Scalet D, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011. Epub 2016 Sep 14. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27639833 Free article.

9

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.

Marjanović M, Sánchez-Huertas C, Terré B, Gómez R, Scheel JF, Pacheco S, Knobel PA, Martínez-Marchal A, Aivio S, Palenzuela L, Wolfrum U, McKinnon PJ, Suja JA, Roig I, Costanzo V, Lüders J, Stracker TH. Marjanović M, et al. Nat Commun. 2015 Jul 9;6:7676. doi: 10.1038/ncomms8676. Nat Commun. 2015. PMID: 26158450 Free PMC article.

10

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.

Floriot S, Vesque C, Rodriguez S, Bourgain-Guglielmetti F, Karaiskou A, Gautier M, Duchesne A, Barbey S, Fritz S, Vasilescu A, Bertaud M, Moudjou M, Halliez S, Cormier-Daire V, Hokayem JE, Nigg EA, Manciaux L, Guatteo R, Cesbron N, Toutirais G, Eggen A, Schneider-Maunoury S, Boichard D, Sobczak-Thépot J, Schibler L. Floriot S, et al. Nat Commun. 2015 Apr 23;6:6894. doi: 10.1038/ncomms7894. Nat Commun. 2015. PMID: 25902731 Free PMC article.

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