PubMed for id: 120522

Year	Number of Results
1974	1
1975	2
1979	2
1981	1
1983	1
1984	2
1985	1
1987	1
1988	2
1989	5
1990	3
1991	5
1992	2
1993	2
1994	3
1995	3
1996	5
1998	1
1999	2
2000	2
2001	3
2002	4
2004	1
2005	3
2006	4
2007	2
2008	3
2009	2
2010	7
2011	7
2012	7
2013	9
2014	4
2015	7
2016	10
2017	6
2018	2
2019	2
2020	9
2021	6
2022	7
2023	4

1

Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.

Orozco Rodriguez JM, Wacklin-Knecht H, Knecht W. Orozco Rodriguez JM, et al. Nucleosides Nucleotides Nucleic Acids. 2022;41(12):1337-1358. doi: 10.1080/15257770.2022.2039393. Epub 2022 Feb 20. Nucleosides Nucleotides Nucleic Acids. 2022. PMID: 35184687

2

Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.

Orozco Rodriguez JM, Krupinska E, Wacklin-Knecht H, Knecht W. Orozco Rodriguez JM, et al. Nucleosides Nucleotides Nucleic Acids. 2022;41(12):1318-1336. doi: 10.1080/15257770.2021.2023749. Epub 2022 Jan 30. Nucleosides Nucleotides Nucleic Acids. 2022. PMID: 35094635 Review.

3

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

Duley JA, Henman MG, Carpenter KH, Bamshad MJ, Marshall GA, Ooi CY, Wilcken B, Pinner JR. Duley JA, et al. Mol Genet Metab. 2016 Sep;119(1-2):83-90. doi: 10.1016/j.ymgme.2016.06.008. Epub 2016 Jun 14. Mol Genet Metab. 2016. PMID: 27370710

4

Orodental findings in postaxial acrofacial dysostosis.

Urs AB, Kumar P, Nunia K. Urs AB, et al. J Oral Maxillofac Pathol. 2014 Jan;18(1):149. doi: 10.4103/0973-029X.131947. J Oral Maxillofac Pathol. 2014. PMID: 24959059 Free PMC article.

5

Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.

Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Saito T, Takazaki S, Kanki T, Yamaza H, Nonaka K, Kang D. Fang J, et al. Biosci Rep. 2012 Dec;32(6):631-9. doi: 10.1042/BSR20120046. Biosci Rep. 2012. PMID: 22967083 Free PMC article.

6

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR. Rainger J, et al. Hum Mol Genet. 2012 Sep 15;21(18):3969-83. doi: 10.1093/hmg/dds218. Epub 2012 Jun 12. Hum Mol Genet. 2012. PMID: 22692683

7

Extra phenotypic features in a girl with Miller syndrome.

Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F. Al Kaissi A, et al. Clin Dysmorphol. 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. Clin Dysmorphol. 2011. PMID: 21346561

8

[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?].

Kechaou I, Rouissi A, Kraoua I, Regayeg A, Turki I, Ben Hamouda M, Gouider-Khouja N. Kechaou I, et al. Rev Neurol (Paris). 2009 Dec;165(12):1111-6. doi: 10.1016/j.neurol.2008.08.014. Rev Neurol (Paris). 2009. PMID: 19108857 French.

9

A variant or a "new" postaxial acrofacial dysostosis syndrome.

Sułko J, Kotulski D, Kozlowski K. Sułko J, et al. Eur J Pediatr. 2008 Dec;167(12):1385-8. doi: 10.1007/s00431-008-0678-1. Epub 2008 Feb 20. Eur J Pediatr. 2008. PMID: 18286304

10

Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

Chrzanowska K, Fryns JP. Chrzanowska K, et al. Genet Couns. 1993;4(2):131-3. Genet Couns. 1993. PMID: 8357564

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

144 results

Results by year