BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 25348816)

  • 21. 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]  

  • 22. An in vitro model for Pelger-Huët anomaly: stable knockdown of lamin B receptor in HL-60 cells.
    Olins AL; Ernst A; Zwerger M; Herrmann H; Olins DE
    Nucleus; 2010; 1(6):506-12. PubMed ID: 21327094
    [TBL] [Abstract][Full Text] [Related]  

  • 23. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
    Andreucci E; Aftimos S; Alcausin M; Haan E; Hunter W; Kannu P; Kerr B; McGillivray G; McKinlay Gardner RJ; Patricelli MG; Sillence D; Thompson E; Zacharin M; Zankl A; Lamandé SR; Savarirayan R
    Orphanet J Rare Dis; 2011 Jun; 6():37. PubMed ID: 21658220
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K; Jain M; Almannai M; Orand T; Lu JT; Tran A; Chen Y; Schlesinger A; Gibbs R; Bonafe L; Campos-Xavier AB; Unger S; Superti-Furga A; Lee BH; Campeau PM; Burrage LC
    Am J Med Genet A; 2017 Mar; 173(3):733-739. PubMed ID: 27888646
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils.
    Cohen TV; Klarmann KD; Sakchaisri K; Cooper JP; Kuhns D; Anver M; Johnson PF; Williams SC; Keller JR; Stewart CL
    Hum Mol Genet; 2008 Oct; 17(19):2921-33. PubMed ID: 18621876
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.
    Le Merrer M; Maroteaux P
    Pediatr Radiol; 1998 Oct; 28(10):771-5. PubMed ID: 9799299
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.
    Song C; Li N; Hu X; Shi Y; Chen L; Zhou T; Xu X; Shen J; Zhu M
    Eur J Med Genet; 2019 Nov; 62(11):103575. PubMed ID: 30439533
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spondylometaphyseal dysplasia: a variant form.
    Felman AH; Frias JL; Rennert OM
    Radiology; 1974 Nov; 113(2):409-15. PubMed ID: 4419008
    [No Abstract]   [Full Text] [Related]  

  • 29. 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]  

  • 30. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
    Macías-Gómez NM; Mégarbané A; Leal-Ugarte E; Rodríguez-Rojas LX; Barros-Núñez P
    Am J Med Genet A; 2004 Aug; 129A(2):190-2. PubMed ID: 15316973
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
    Smith AC; Mears AJ; Bunker R; Ahmed A; MacKenzie M; Schwartzentruber JA; Beaulieu CL; Ferretti E; ; Majewski J; Bulman DE; Celik FC; Boycott KM; Graham GE
    J Med Genet; 2014 Jul; 51(7):470-4. PubMed ID: 24706940
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.
    Kozlowski K; Napiontek M; Beim ER
    Can Assoc Radiol J; 1992 Oct; 43(5):364-8. PubMed ID: 1393702
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
    Jeon GW; Lee MN; Jung JM; Hong SY; Kim YN; Sin JB; Ki CS
    Ann Lab Med; 2014 Mar; 34(2):134-8. PubMed ID: 24624349
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Spondylometaphyseal dysplasia: further heterogeneity.
    Borochowitz Z; Berant M; Kristal H
    Skeletal Radiol; 1988; 17(3):181-6. PubMed ID: 3375844
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Spondylar dysplasia in type X collagenopathy.
    Nishimura G; Manabe N; Kosaki K; Haga N; Ohashi H; Nakamura K; Ikegawa S
    Pediatr Radiol; 2001 Feb; 31(2):76-80. PubMed ID: 11214689
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Dosage effect of zero to three functional LBR-genes in vivo and in vitro.
    Gravemann S; Schnipper N; Meyer H; Vaya A; Nowaczyk MJ; Rajab A; Hofmann WK; Salewsky B; Tönnies H; Neitzel H; Stassen HH; Sperling K; Hoffmann K
    Nucleus; 2010; 1(2):179-89. PubMed ID: 21326950
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
    Hoffmann K; Dreger CK; Olins AL; Olins DE; Shultz LD; Lucke B; Karl H; Kaps R; Müller D; Vayá A; Aznar J; Ware RE; Sotelo Cruz N; Lindner TH; Herrmann H; Reis A; Sperling K
    Nat Genet; 2002 Aug; 31(4):410-4. PubMed ID: 12118250
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
    Wang Z; Iida A; Miyake N; Nishiguchi KM; Fujita K; Nakazawa T; Alswaid A; Albalwi MA; Kim OH; Cho TJ; Lim GY; Isidor B; David A; Rustad CF; Merckoll E; Westvik J; Stattin EL; Grigelioniene G; Kou I; Nakajima M; Ohashi H; Smithson S; Matsumoto N; Nishimura G; Ikegawa S
    PLoS One; 2016; 11(3):e0150555. PubMed ID: 26974433
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. [Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology].
    Tomonaga M
    Rinsho Byori; 2005 Jan; 53(1):54-60. PubMed ID: 15724491
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.