PubMed for id: 98483

Year	Number of Results
1977	1
1983	1
1989	1
1997	2
2000	3
2004	1
2007	1
2011	1
2012	1
2013	2
2014	2
2015	4
2016	2
2018	3
2019	3
2020	1
2021	2
2022	3
2023	1
2024	0

1

Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

Majewski F. Majewski F. Am J Med Genet. 2000 Aug 14;93(4):335-8. doi: 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10946362

2

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

Saraiva JM. Saraiva JM. Am J Med Genet. 2000 Mar 20;91(3):198-200. doi: 10.1002/(sici)1096-8628(20000320)91:3<198::aid-ajmg8>3.0.co;2-4. Am J Med Genet. 2000. PMID: 10756342

3

The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis.

Robinow M, Johanson AJ, Smith TH. Robinow M, et al. J Pediatr. 1977 Sep;91(3):417-21. doi: 10.1016/s0022-3476(77)81311-5. J Pediatr. 1977. PMID: 894410

4

Lenz-Majewski syndrome in a patient from Egypt.

Afifi HH, Abdel-Hamid MS, Mehrez MI, El-Kamah G, Abdel-Salam GMH. Afifi HH, et al. Am J Med Genet A. 2019 Oct;179(10):2039-2042. doi: 10.1002/ajmg.a.61327. Epub 2019 Aug 12. Am J Med Genet A. 2019. PMID: 31403251

5

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D. Seda M, et al. F1000Res. 2019 Mar 11;8:273. doi: 10.12688/f1000research.17314.1. eCollection 2019. F1000Res. 2019. PMID: 31231513 Free PMC article.

6

Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.

Sohn M, Balla T. Sohn M, et al. J Rare Dis Res Treat. 2016;2(1):47-51. doi: 10.29245/2572-9411/2017/1.1080. Epub 2016 Dec 29. J Rare Dis Res Treat. 2016. PMID: 30854527 Free PMC article.

7

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK. Tamhankar PM, et al. Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002. Epub 2015 Jun 24. Eur J Med Genet. 2015. PMID: 26117586

8

Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Mizuguchi K, Miyazaki O, Nishimura G, Ishigro A. Mizuguchi K, et al. Pediatr Radiol. 2015 Sep;45(10):1567-70. doi: 10.1007/s00247-015-3329-5. Epub 2015 Mar 17. Pediatr Radiol. 2015. PMID: 25779830

9

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Whyte MP, Blythe A, McAlister WH, Nenninger AR, Bijanki VN, Mumm S. Whyte MP, et al. J Bone Miner Res. 2015 Apr;30(4):606-14. doi: 10.1002/jbmr.2398. J Bone Miner Res. 2015. PMID: 25363158 Free article.

10

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535

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