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 *

115 related articles for article (PubMed ID: 39129839)

  • 1. A Novel
    Soğukpınar M; Karaosmanoğlu B; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ
    Mol Syndromol; 2024 Aug; 15(4):347-354. PubMed ID: 39129839
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Primrose syndrome: Characterization of the phenotype in 42 patients.
    Melis D; Carvalho D; Barbaro-Dieber T; Espay AJ; Gambello MJ; Gener B; Gerkes E; Hitzert MM; Hove HB; Jansen S; Jira PE; Lachlan K; Menke LA; Narayanan V; Ortiz D; Overwater E; Posmyk R; Ramsey K; Rossi A; Sandoval RL; Stumpel C; Stuurman KE; Cordeddu V; Turnpenny P; Strisciuglio P; Tartaglia M; Unger S; Waters T; Turnbull C; Hennekam RC
    Clin Genet; 2020 Jun; 97(6):890-901. PubMed ID: 32266967
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
    Juven A; Nambot S; Piton A; Jean-Marçais N; Masurel A; Callier P; Marle N; Mosca-Boidron AL; Kuentz P; Philippe C; Chevarin M; Duffourd Y; Gautier E; Munnich A; Rio M; Rondeau S; El Chehadeh S; Schaefer É; Gérard B; Bouquillon S; Delorme CV; Francannet C; Laffargue F; Gouas L; Isidor B; Vincent M; Blesson S; Giuliano F; Pichon O; Le Caignec C; Journel H; Perrin-Sabourin L; Fabre-Teste J; Martin D; Vieville G; Dieterich K; Lacombe D; Denommé-Pichon AS; Thauvin-Robinet C; Faivre L
    Eur J Hum Genet; 2020 Aug; 28(8):1044-1055. PubMed ID: 32071410
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
    Cleaver R; Berg J; Craft E; Foster A; Gibbons RJ; Hobson E; Lachlan K; Naik S; Sampson JR; Sharif S; Smithson S; ; Parker MJ; Tatton-Brown K
    Am J Med Genet A; 2019 Mar; 179(3):344-349. PubMed ID: 30637921
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An Infant With Primrose Syndrome: A Case Report.
    Long C; DeRose B; Lal AB; Imboden E
    Cureus; 2023 Oct; 15(10):e46546. PubMed ID: 37927765
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
    Mattioli F; Piton A; Gérard B; Superti-Furga A; Mandel JL; Unger S
    Am J Med Genet A; 2016 Jun; 170(6):1626-9. PubMed ID: 27061120
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
    Li J; Zhang C; Tian X; Zhou B; Chen X; Wang Y; Hao S; Hui L; Meng Z
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2304. PubMed ID: 38087819
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
    Stellacci E; Steindl K; Joset P; Mercurio L; Anselmi M; Cecchetti S; Gogoll L; Zweier M; Hackenberg A; Bocchinfuso G; Stella L; Tartaglia M; Rauch A
    Hum Mutat; 2018 Jul; 39(7):959-964. PubMed ID: 29737001
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
    Ferreira LD; Borges-Medeiros RL; Thies J; Schnur RE; Lam C; de Oliveira JRM
    Am J Med Genet A; 2019 Nov; 179(11):2228-2232. PubMed ID: 31321892
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
    Yamamoto-Shimojima K; Imaizumi T; Akagawa H; Kanno H; Yamamoto T
    Am J Med Genet A; 2020 Mar; 182(3):521-526. PubMed ID: 31821719
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
    Alby C; Boutaud L; Bessières B; Serre V; Rio M; Cormier-Daire V; de Oliveira J; Ichkou A; Mouthon L; Gordon CT; Bonnière M; Mechler C; Nitschke P; Bole C; Lyonnet S; Bahi-Buisson N; Boddaert N; Colleaux L; Roth P; Ville Y; Vekemans M; Encha-Razavi F; Attié-Bitach T; Thomas S
    Am J Med Genet A; 2018 May; 176(5):1091-1098. PubMed ID: 29681083
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in ZBTB20 cause Primrose syndrome.
    Cordeddu V; Redeker B; Stellacci E; Jongejan A; Fragale A; Bradley TE; Anselmi M; Ciolfi A; Cecchetti S; Muto V; Bernardini L; Azage M; Carvalho DR; Espay AJ; Male A; Molin AM; Posmyk R; Battisti C; Casertano A; Melis D; van Kampen A; Baas F; Mannens MM; Bocchinfuso G; Stella L; Tartaglia M; Hennekam RC
    Nat Genet; 2014 Aug; 46(8):815-7. PubMed ID: 25017102
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
    Casertano A; Fontana P; Hennekam RC; Tartaglia M; Genesio R; Dieber TB; Ortega L; Nitsch L; Melis D
    Am J Med Genet A; 2017 Jul; 173(7):1896-1902. PubMed ID: 28462983
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal Diagnosis of Primrose Syndrome.
    Abdallah W; Spaggiari E; Brisset S; Dard R; Attié Bitach T; Bault JP; Quibel T
    J Ultrasound Med; 2024 Feb; 43(2):411-414. PubMed ID: 37929614
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
    Yang Q; Ou S; Zhou X; Yi S; Lin L; Yi S; Zhang S; Qin Z; Luo J
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2408. PubMed ID: 38404251
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline.
    Moon YM; Park SE; Smith-Hicks C; Hauptman A
    Am J Med Genet A; 2024 Aug; 194(8):e63610. PubMed ID: 38517161
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unique skeletal manifestations in patients with Primrose syndrome.
    Arora V; Leon E; Diaz J; Hove HB; Carvalho DR; Kurosawa K; Nishimura N; Nishimura G; Saxena R; Ferreira C; Puri RD; Verma IC
    Eur J Med Genet; 2020 Aug; 63(8):103967. PubMed ID: 32473227
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.
    Fang X; Ma M; Rong W; Lian YY; Wu X; Gao Y; Li HP; Sheng X
    Front Genet; 2024; 15():1417584. PubMed ID: 39076169
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.