BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 36411030)

  • 1. Conclusion of diagnostic odysseys due to inversions disrupting
    Pagnamenta AT; Yu J; Evans J; Twiss P; ; ; Offiah AC; Wafik M; Mehta SG; Javaid MK; Smithson SF; Taylor JC
    J Med Genet; 2023 May; 60(5):505-510. PubMed ID: 36411030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variants in
    Abdullah ; Yousaf M; Azeem Z; Bilal M; Liaqat K; Hussain S; Ahmad F; Ghous T; Ullah A; Ahmad W
    Genet Test Mol Biomarkers; 2019 Oct; 23(10):744-750. PubMed ID: 31573334
    [No Abstract]   [Full Text] [Related]  

  • 3. Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
    Kozma K; Bembea M; Jurca CM; Ioana M; Streață I; Şoşoi SŞ; Pirvu A; Petchesi CD; Szilágyi A; Sava CN; Jurca A; Ujfalusi A; Szűcs Z; Szakszon K
    Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828280
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.
    Khan H; ; Ahmed S; Nawaz S; Ahmad W; Rafiq MA
    Klin Padiatr; 2021 Mar; 233(2):53-58. PubMed ID: 33339065
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
    Crapster JA; Hudgins L; Chen JK; Gomez-Ospina N
    Am J Med Genet A; 2017 Dec; 173(12):3221-3225. PubMed ID: 28884880
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
    Jamsheer A; Sowińska A; Trzeciak T; Jamsheer-Bratkowska M; Geppert A; Latos-Bieleńska A
    J Appl Genet; 2012 Nov; 53(4):415-22. PubMed ID: 22903559
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
    Patel R; Singh SK; Bhattacharya V; Ali A
    Am J Med Genet A; 2021 Jan; 185(1):97-104. PubMed ID: 33058447
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
    Siavrienė E; Mikštienė V; Radzevičius D; Maldžienė Ž; Rančelis T; Petraitytė G; Tamulytė G; Kavaliauskienė I; Šarkinas L; Utkus A; Kučinskas V; Preikšaitienė E
    Mol Genet Genomic Med; 2019 Sep; 7(9):e878. PubMed ID: 31325247
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
    Sczakiel HL; Hülsemann W; Holtgrewe M; Abad-Perez AT; Elsner J; Schwartzmann S; Horn D; Spielmann M; Mundlos S; Mensah MA
    Clin Genet; 2021 Dec; 100(6):758-765. PubMed ID: 34482537
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.
    Aguado C; Gayà-Vidal M; Villatoro S; Oliva M; Izquierdo D; Giner-Delgado C; Montalvo V; García-González J; Martínez-Fundichely A; Capilla L; Ruiz-Herrera A; Estivill X; Puig M; Cáceres M
    PLoS Genet; 2014 Mar; 10(3):e1004208. PubMed ID: 24651690
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
    Kalff-Suske M; Wild A; Topp J; Wessling M; Jacobsen EM; Bornholdt D; Engel H; Heuer H; Aalfs CM; Ausems MG; Barone R; Herzog A; Heutink P; Homfray T; Gillessen-Kaesbach G; König R; Kunze J; Meinecke P; Müller D; Rizzo R; Strenge S; Superti-Furga A; Grzeschik KH
    Hum Mol Genet; 1999 Sep; 8(9):1769-77. PubMed ID: 10441342
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
    Mátyás G; Alonso S; Patrignani A; Marti M; Arnold E; Magyar I; Henggeler C; Carrel T; Steinmann B; Berger W
    Hum Genet; 2007 Aug; 122(1):23-32. PubMed ID: 17492313
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Marfan Syndrome Caused by Disruption of the
    Schnause AC; Komlosi K; Herr B; Neesen J; Dremsek P; Schwarz T; Tzschach A; Jägle S; Lausch E; Fischer J; Gläser B
    Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828442
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
    Elson E; Perveen R; Donnai D; Wall S; Black GC
    J Med Genet; 2002 Nov; 39(11):804-6. PubMed ID: 12414818
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Point mutations in human GLI3 cause Greig syndrome.
    Wild A; Kalff-Suske M; Vortkamp A; Bornholdt D; König R; Grzeschik KH
    Hum Mol Genet; 1997 Oct; 6(11):1979-84. PubMed ID: 9302279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
    Ito S; Kitazawa R; Haraguchi R; Kondo T; Ouchi A; Ueda Y; Kitazawa S
    Diagn Pathol; 2018 Jan; 13(1):1. PubMed ID: 29368652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.
    Siracusano M; Riccioni A; Baratta A; Baldi M; Curatolo P; Mazzone L
    J Med Case Rep; 2019 Apr; 13(1):100. PubMed ID: 31010437
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New insights into genotype-phenotype correlation for GLI3 mutations.
    Démurger F; Ichkou A; Mougou-Zerelli S; Le Merrer M; Goudefroye G; Delezoide AL; Quélin C; Manouvrier S; Baujat G; Fradin M; Pasquier L; Megarbané A; Faivre L; Baumann C; Nampoothiri S; Roume J; Isidor B; Lacombe D; Delrue MA; Mercier S; Philip N; Schaefer E; Holder M; Krause A; Laffargue F; Sinico M; Amram D; André G; Liquier A; Rossi M; Amiel J; Giuliano F; Boute O; Dieux-Coeslier A; Jacquemont ML; Afenjar A; Van Maldergem L; Lackmy-Port-Lis M; Vincent-Delorme C; Chauvet ML; Cormier-Daire V; Devisme L; Geneviève D; Munnich A; Viot G; Raoul O; Romana S; Gonzales M; Encha-Razavi F; Odent S; Vekemans M; Attie-Bitach T
    Eur J Hum Genet; 2015 Jan; 23(1):92-102. PubMed ID: 24736735
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fibrillin protein pleiotropy: Acromelic dysplasias.
    Sakai LY; Keene DR
    Matrix Biol; 2019 Jul; 80():6-13. PubMed ID: 30219651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
    Collins RL; Brand H; Redin CE; Hanscom C; Antolik C; Stone MR; Glessner JT; Mason T; Pregno G; Dorrani N; Mandrile G; Giachino D; Perrin D; Walsh C; Cipicchio M; Costello M; Stortchevoi A; An JY; Currall BB; Seabra CM; Ragavendran A; Margolin L; Martinez-Agosto JA; Lucente D; Levy B; Sanders SJ; Wapner RJ; Quintero-Rivera F; Kloosterman W; Talkowski ME
    Genome Biol; 2017 Mar; 18(1):36. PubMed ID: 28260531
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.