PubMed (OMIM) for id: 3930

Year	Number of Results
1950	1
1952	1
1959	1
1962	2
1965	1
1968	1
1970	1
1971	1
1975	1
1977	1
1981	1
1982	1
1985	1
1987	1
1988	3
1990	2
1991	1
1993	1
1994	2
1996	2
2000	2
2002	2
2003	6
2007	2
2008	2
2010	2
2012	1
2013	1
2014	1
2015	1
2017	1
2018	4
2019	2
2020	1
2024	0

1

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Collins M, Miranda V, Rousseau J, Kratz LE, Campeau PM. Collins M, et al. Bone. 2020 Dec;141:115601. doi: 10.1016/j.bone.2020.115601. Epub 2020 Aug 19. Bone. 2020. PMID: 32827848

2

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

Giorgio E, Sirchia F, Bosco M, Sobreira NLM; Baylor-Hopkins Center for Mendelian Genomics; Grosso E, Brussino A, Brusco A. Giorgio E, et al. Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30561119 Free PMC article.

3

A common pathomechanism in GMAP-210- and LBR-related diseases.

Wehrle A, Witkos TM, Schneider JC, Hoppmann A, Behringer S, Köttgen A, Elting M, Spranger J, Lowe M, Lausch E. Wehrle A, et al. JCI Insight. 2018 Dec 6;3(23):e121150. doi: 10.1172/jci.insight.121150. JCI Insight. 2018. PMID: 30518689 Free PMC article.

4

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Thompson E, Abdalla E, Superti-Furga A, McAlister W, Kratz L, Unger S, Royer-Bertrand B, Campos-Xavier B, Mittaz-Crettol L, Amin AK, DeSanto C, Wilson DB, Douglas G, Kozel B, Shinawi M. Thompson E, et al. Bone. 2019 Mar;120:354-363. doi: 10.1016/j.bone.2018.11.006. Epub 2018 Nov 15. Bone. 2019. PMID: 30448303

5

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.

6

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM. Sobreira N, et al. Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348816 Free PMC article.

7

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Borovik L, et al. Am J Med Genet A. 2013 Aug;161A(8):2066-73. doi: 10.1002/ajmg.a.36019. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824842

8

Nuclear aggregation of olfactory receptor genes governs their monogenic expression.

Clowney EJ, LeGros MA, Mosley CP, Clowney FG, Markenskoff-Papadimitriou EC, Myllys M, Barnea G, Larabell CA, Lomvardas S. Clowney EJ, et al. Cell. 2012 Nov 9;151(4):724-737. doi: 10.1016/j.cell.2012.09.043. Cell. 2012. PMID: 23141535 Free PMC article.

9

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K. Clayton P, et al. Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21. Nucleus. 2010. PMID: 21327084 Free PMC article.

10

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Lévy N, De Sandre-Giovannoli A. Gaudy-Marqueste C, et al. J Med Genet. 2010 Jun;47(6):361-70. doi: 10.1136/jmg.2009.071696. J Med Genet. 2010. PMID: 20522425

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