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 *

230 related articles for article (PubMed ID: 21108391)

  • 1. Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity.
    McGoey R; Varma A; Lacassie Y
    Am J Med Genet A; 2010 Dec; 152A(12):3068-73. PubMed ID: 21108391
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Update on the Toriello-Carey syndrome.
    Toriello HV; Colley C; Bamshad M
    Am J Med Genet A; 2016 Oct; 170(10):2551-8. PubMed ID: 27510950
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
    Tegay DH; Chan KK; Leung L; Wang C; Burkett S; Stone G; Stanyon R; Toriello HV; Hatchwell E
    Clin Genet; 2009 Mar; 75(3):259-64. PubMed ID: 19170718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
    Xie L; Luo X; Yang J; Wang J; Nie C; Wang Z
    Am J Med Genet A; 2017 Mar; 173(3):721-726. PubMed ID: 27748028
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.
    Kraynack NC; Hostoffer RW; Robin NH
    J Child Neurol; 1999 Nov; 14(11):754-6. PubMed ID: 10593557
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal ultrasound diagnosis of Toriello-Carey syndrome.
    Paladini D; Russo MG; Tartaglione A; Loffredo A; Martinelli P
    Prenat Diagn; 2002 Dec; 22(13):1185-7. PubMed ID: 12478630
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Further delineation of the Toriello-Carey syndrome: a report of two siblings.
    Barisic I; Peter B; Mikecin L
    Am J Med Genet A; 2003 Jan; 116A(2):188-91. PubMed ID: 12494442
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
    Said E; Cuschieri A; Vermeesch J; Fryns JP
    Am J Med Genet A; 2011 Jun; 155A(6):1390-2. PubMed ID: 21567913
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
    Santoro C; Riccio S; Palladino F; Aliberti F; Carotenuto M; Zanobio M; Peduto C; Nigro V; Perrotta S; Piluso G
    Eur J Med Genet; 2021 May; 64(5):104190. PubMed ID: 33722742
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.
    Rahikkala E; Forsström LM; Kokkonen H; Knuutila S; Mustonen A; Ignatius J
    Eur J Med Genet; 2013 Jul; 56(7):389-96. PubMed ID: 23707653
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
    Rao A; O'Donnell S; Bain N; Meldrum C; Shorter D; Goel H
    Eur J Med Genet; 2014 Feb; 57(2-3):65-70. PubMed ID: 24462883
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
    Jobic F; Lacot-Leriche E; Piton A; Le Moing AG; Mathieu-Dramard M; Costantini S; Morin G; Jedraszak G
    Am J Med Genet A; 2021 Dec; 185(12):3877-3883. PubMed ID: 34357686
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years.
    Tirali RE; İlhan B; Şar Ç; Çehreli SB
    Spec Care Dentist; 2016 Sep; 36(5):288-90. PubMed ID: 27159668
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
    Descipio C; Schneider L; Young TL; Wasserman N; Yaeger D; Lu F; Wheeler PG; Williams MS; Bason L; Jukofsky L; Menon A; Geschwindt R; Chudley AE; Saraiva J; Schinzel AA; Guichet A; Dobyns WE; Toutain A; Spinner NB; Krantz ID
    Am J Med Genet A; 2005 Apr; 134A(1):3-11. PubMed ID: 15704124
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].
    Quintela I; Barros-Angueira F; Perez-Gay L; Dacruz D; Castro-Gago M; Carracedo A; Eiris-Punal J
    Rev Neurol; 2015 Sep; 61(6):255-60. PubMed ID: 26350776
    [TBL] [Abstract][Full Text] [Related]  

  • 17. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
    Dikow N; Granzow M; Graul-Neumann LM; Karch S; Hinderhofer K; Paramasivam N; Behl LJ; Kaufmann L; Fischer C; Evers C; Schlesner M; Eils R; Borck G; Zweier C; Bartram CR; Carey JC; Moog U
    Am J Med Genet A; 2017 May; 173(5):1369-1373. PubMed ID: 28371085
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Delineation of the proximal 3q microdeletion syndrome.
    Simovich MJ; Bland SD; Peiffer DA; Gunderson KL; Cheung SW; Yatsenko SA; Shinawi M
    Am J Med Genet A; 2008 Jul; 146A(13):1729-35. PubMed ID: 18536049
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
    Izumi K; Brooks SS; Feret HA; Zackai EH
    Am J Med Genet A; 2012 Jul; 158A(7):1535-41. PubMed ID: 22614953
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
    Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
    Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.