184 related articles for article (PubMed ID: 25348816)
1. 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
Am J Med Genet A; 2015 Jan; 167A(1):159-63. PubMed ID: 25348816
[TBL] [Abstract][Full Text] [Related]
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; ; Grosso E; Brussino A; Brusco A
Am J Med Genet A; 2019 Feb; 179(2):306-311. PubMed ID: 30561119
[TBL] [Abstract][Full Text] [Related]
3. 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
Nucleus; 2010; 1(4):354-66. PubMed ID: 21327084
[TBL] [Abstract][Full Text] [Related]
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
Bone; 2019 Mar; 120():354-363. PubMed ID: 30448303
[TBL] [Abstract][Full Text] [Related]
5. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L; Modaff P; Waterham HR; Krentz AD; Pauli RM
Am J Med Genet A; 2013 Aug; 161A(8):2066-73. PubMed ID: 23824842
[TBL] [Abstract][Full Text] [Related]
6. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Gregersen PA; McKay V; Walsh M; Brown E; McGillivray G; Savarirayan R
Mol Genet Genomic Med; 2020 Jun; 8(6):e1173. PubMed ID: 32304187
[TBL] [Abstract][Full Text] [Related]
7. Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.
Turgut GT; Güleç Ç; Sarac Sivrikoz T; Kale H; Karaman B; Nishimura G; Altunoglu U
Am J Med Genet A; 2022 Jan; 188(1):253-258. PubMed ID: 34467646
[TBL] [Abstract][Full Text] [Related]
8. 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
Bone; 2020 Dec; 141():115601. PubMed ID: 32827848
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.
Shen X; Li Z; Pan X; Yao J; Shen G; Zhang S; Dong M; Fan L
Front Genet; 2022; 13():1020475. PubMed ID: 36712868
[TBL] [Abstract][Full Text] [Related]
10. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
Shultz LD; Lyons BL; Burzenski LM; Gott B; Samuels R; Schweitzer PA; Dreger C; Herrmann H; Kalscheuer V; Olins AL; Olins DE; Sperling K; Hoffmann K
Hum Mol Genet; 2003 Jan; 12(1):61-9. PubMed ID: 12490533
[TBL] [Abstract][Full Text] [Related]
11. The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
Tsai PL; Zhao C; Turner E; Schlieker C
Elife; 2016 Jun; 5():. PubMed ID: 27336722
[TBL] [Abstract][Full Text] [Related]
12. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
Bonilla-Fornés S; Galán-Ledesma L; Pérez PM; Modamio-Høybjør S; Carbonell-Pérez JM; Parrón-Pajares M; Heath KE; Galán-Gómez E
Eur J Med Genet; 2021 Oct; 64(10):104307. PubMed ID: 34407464
[TBL] [Abstract][Full Text] [Related]
13. Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
Sharony R; Borochowitz Z; Cohen L; Shtorch-Asor A; Rosenfeld R; Modai S; Reinstein E
Clin Genet; 2017 Dec; 92(6):645-648. PubMed ID: 28342220
[TBL] [Abstract][Full Text] [Related]
14. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K; Tansek M; Tobias ES; Ikegawa S; Coucke P; Hyland J; Mortier G; Iwaya T; Nishimura G; Superti-Furga A; Unger S
Am J Med Genet A; 2007 Jan; 143A(2):161-7. PubMed ID: 17163530
[TBL] [Abstract][Full Text] [Related]
15. Lamin B-receptor mutations in Pelger-Huët anomaly.
Best S; Salvati F; Kallo J; Garner C; Height S; Thein SL; Rees DC
Br J Haematol; 2003 Nov; 123(3):542-4. PubMed ID: 14617022
[TBL] [Abstract][Full Text] [Related]
16. The danger of "multi-tasking": LBR out of control.
Herrmann H; Zwerger M
Nucleus; 2010; 1(4):319-24. PubMed ID: 21327079
[TBL] [Abstract][Full Text] [Related]
17. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Tüysüz B; Kasap B; Sarıtaş M; Alkaya DU; Bozlak S; Kıykım A; Durmaz A; Yıldırım T; Akpınar E; Apak H; Vural M
Bone; 2023 Feb; 167():116614. PubMed ID: 36400164
[TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Waterham HR; Koster J; Mooyer P; Noort Gv Gv; Kelley RI; Wilcox WR; Wanders RJ; Hennekam RC; Oosterwijk JC
Am J Hum Genet; 2003 Apr; 72(4):1013-7. PubMed ID: 12618959
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D; Vriens J; Camacho N; Luong P; Deixler H; Funari TL; Bacino CA; Irons MB; Holm IA; Sadler L; Okenfuss EB; Janssens A; Voets T; Rimoin DL; Lachman RS; Nilius B; Cohn DH
Am J Hum Genet; 2009 Mar; 84(3):307-15. PubMed ID: 19232556
[TBL] [Abstract][Full Text] [Related]
20. A female case of Sedaghatian type spondylometaphyseal dysplasia.
Foulds N; Fairhurst J; Temple IK; Cade S; Groves C; Lancaster T
Am J Med Genet A; 2003 May; 118A(4):377-81. PubMed ID: 12687672
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
