These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 32304187)

  • 1. 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]  

  • 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. A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
    Elçioglu N; Hall CM
    J Med Genet; 1998 Jun; 35(6):505-7. PubMed ID: 9643294
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.
    Sanders RC; Greyson-Fleg RT; Hogge WA; Blakemore KJ; McGowan KD; Isbister S
    J Ultrasound Med; 1994 Sep; 13(9):691-700. PubMed ID: 7933045
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
    Turner EM; Schlieker C
    Rare Dis; 2016; 4(1):e1241363. PubMed ID: 27830109
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lethal short-limbed chondrodysplasia in early infancy.
    Yang SS; Heidelberger KP; Brough AJ; Corbett DP; Bernstein J
    Perspect Pediatr Pathol; 1976; 3():1-40. PubMed ID: 972830
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.
    Young AN; Perlas E; Ruiz-Blanes N; Hierholzer A; Pomella N; Martin-Martin B; Liverziani A; Jachowicz JW; Giannakouros T; Cerase A
    Commun Biol; 2021 Apr; 4(1):478. PubMed ID: 33846535
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
    Offiah AC; Mansour S; Jeffrey I; Nash R; Whittock N; Pyper R; Bewley S; Clayton PT; Hall CM
    J Med Genet; 2003 Dec; 40(12):e129. PubMed ID: 14684697
    [No Abstract]   [Full Text] [Related]  

  • 16. Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.
    Lourdes Frehner B; Christen M; Reichler IM; Jagannathan V; Novacco M; Riond B; Peters LM; Suárez Sánchez-Andrade J; Pieńkowska-Schelling A; Schelling C; Kipar A; Leeb T; Balogh O
    PLoS Genet; 2023 Jun; 19(6):e1010805. PubMed ID: 37347778
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
    Chitayat D; Gruber H; Mullen BJ; Pauzner D; Costa T; Lachman R; Rimoin DL
    Am J Med Genet; 1993 Aug; 47(2):272-7. PubMed ID: 8213919
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
    Loshkajian A; Roume J; Stanescu V; Delezoide AL; Stampf F; Maroteaux P
    Am J Med Genet; 1997 Aug; 71(3):283-8. PubMed ID: 9268097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
    Konstantinidou A; Karadimas C; Waterham HR; Superti-Furga A; Kaminopetros P; Grigoriadou M; Kokotas H; Agrogiannis G; Giannoulia-Karantana A; Patsouris E; Petersen MB
    Prenat Diagn; 2008 Apr; 28(4):309-12. PubMed ID: 18382993
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.