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 *

145 related articles for article (PubMed ID: 36896612)

  • 1. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
    Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akçören Z; Utine GE; Chiu T; Shimizu K; Hammarsjö A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
    J Bone Miner Res; 2023 May; 38(5):692-706. PubMed ID: 36896612
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
    Li D; Dong H; Zheng H; Song J; Li X; Jin Y; Liu Y; Yang Y
    Eur J Med Genet; 2017 Dec; 60(12):685-689. PubMed ID: 28917829
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
    Hubmacher D; Taye N; Balic Z; Thacker S; Adams SM; Birk DE; Schweitzer R; Apte SS
    Matrix Biol; 2019 Sep; 82():38-53. PubMed ID: 30738849
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
    Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Zhang A; Berardinelli SJ; Leonhard-Melief C; Vasudevan D; Liu TW; Taibi A; Giannone S; Apte SS; Holdener BC; Haltiwanger RS
    J Biol Chem; 2020 Nov; 295(46):15742-15753. PubMed ID: 32913123
    [No Abstract]   [Full Text] [Related]  

  • 6. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
    Reilly ML; Ain NU; Muurinen M; Tata A; Huber C; Simon M; Ishaq T; Shaw N; Rusanen S; Pekkinen M; Högler W; Knapen MFCM; van den Born M; Saunier S; Naz S; Cormier-Daire V; Benmerah A; Makitie O
    J Bone Miner Res; 2022 Sep; 37(9):1642-1652. PubMed ID: 35748595
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
    Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH
    Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutations in geleophysic dysplasia type 1.
    Porayette P; Fruitman D; Lauzon JL; Le Goff C; Cormier-Daire V; Sanders SP; Pinto-Rojas A; Perez-Atayde AR
    Pediatr Dev Pathol; 2014; 17(3):209-16. PubMed ID: 24251637
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.
    Hubmacher D; Wang LW; Mecham RP; Reinhardt DP; Apte SS
    Dis Model Mech; 2015 May; 8(5):487-99. PubMed ID: 25762570
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
    Camarena V; Williams MM; Morales AA; Zafeer MF; Kilic OV; Kamiar A; Abad C; Rasmussen MA; Briski LM; Peart L; Bademci G; Barbouth DS; Smithson S; Wang G; Shehadeh LA; Walz K; Tekin M
    JCI Insight; 2024 Feb; 9(5):. PubMed ID: 38300707
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
    Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V
    Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.
    Mackenroth L; Rump A; Lorenz P; Schröck E; Tzschach A
    Clin Dysmorphol; 2016 Jul; 25(3):106-9. PubMed ID: 27057656
    [No Abstract]   [Full Text] [Related]  

  • 13. Extending the phenotype of lethal skeletal dysplasia type al Gazali.
    Grigelioniene G; Papadogiannakis N; Conner P; Geiberger S; Nishikawa M; Nakayama M
    Am J Med Genet A; 2011 Jun; 155A(6):1404-8. PubMed ID: 21567921
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
    Ben-Mahmoud A; Ben-Salem S; Al-Sorkhy M; John A; Ali BR; Al-Gazali L
    Clin Genet; 2018 Jun; 93(6):1148-1158. PubMed ID: 29443383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia.
    Khan AO; Schatz P
    J AAPOS; 2019 Apr; 23(2):101-102. PubMed ID: 30415012
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene.
    García-Ortiz L; Gutiérrez-Salinas J; Del Carmen Chima Galán M; García RL; de la Concepción A Yerena M
    Am J Med Genet A; 2015 Aug; 167A(8):1949-51. PubMed ID: 25850559
    [No Abstract]   [Full Text] [Related]  

  • 17. Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
    Karaer K; Rosti RO; Torun D; Sanal HT; Guran S
    Genet Couns; 2012; 23(4):457-63. PubMed ID: 23431744
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
    Tham E; Eklund EA; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
    Eur J Hum Genet; 2016 Feb; 24(2):198-207. PubMed ID: 25966638
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
    Simsek-Kiper PO; Urel-Demir G; Taskiran EZ; Arslan UE; Nur B; Mihci E; Haliloglu M; Alanay Y; Utine GE; Boduroglu K
    J Hum Genet; 2021 Jun; 66(6):585-596. PubMed ID: 33288834
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Case report: A homozygous
    Li M; Li Y; Liu H; Zhou H; Xie W; Peng Q
    Front Genet; 2022; 13():1014188. PubMed ID: 36246610
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.