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 *

107 related articles for article (PubMed ID: 14968892)

  • 1. 22q13 deletion syndrome: an update and review for the primary pediatrician.
    Havens JM; Visootsak J; Phelan MC; Graham JM
    Clin Pediatr (Phila); 2004; 43(1):43-53. PubMed ID: 14968892
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [The Phelan-McDermid syndrome (22q13 microdeletion) - case report].
    Slezak R; Laczmańska I
    Med Wieku Rozwoj; 2011; 15(1):96-100. PubMed ID: 21786519
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletion 22q13.3 syndrome.
    Phelan MC
    Orphanet J Rare Dis; 2008 May; 3():14. PubMed ID: 18505557
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].
    Strenge S; Froster UG; Kujat A; Bernhard M; Merkenschlager A
    Klin Padiatr; 2008; 220(5):318-20. PubMed ID: 18814345
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.
    Cusmano-Ozog K; Manning MA; Hoyme HE
    Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):393-8. PubMed ID: 17926345
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
    Aldinger KA; Kogan J; Kimonis V; Fernandez B; Horn D; Klopocki E; Chung B; Toutain A; Weksberg R; Millen KJ; Barkovich AJ; Dobyns WB
    Am J Med Genet A; 2013 Jan; 161A(1):131-6. PubMed ID: 23225497
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.
    Philippe A; Boddaert N; Vaivre-Douret L; Robel L; Danon-Boileau L; Malan V; de Blois MC; Heron D; Colleaux L; Golse B; Zilbovicius M; Munnich A
    Pediatrics; 2008 Aug; 122(2):e376-82. PubMed ID: 18625665
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical utility gene card for: 16p12.2 microdeletion.
    Pizzo L; Andrieux J; Amor DJ; Girirajan S
    Eur J Hum Genet; 2017 Feb; 25(2):. PubMed ID: 27848943
    [No Abstract]   [Full Text] [Related]  

  • 10. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
    J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial.
    Schmidt H; Kern W; Giese R; Hallschmid M; Enders A
    J Med Genet; 2009 Apr; 46(4):217-22. PubMed ID: 18948358
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
    Sarasua SM; Dwivedi A; Boccuto L; Chen CF; Sharp JL; Rollins JD; Collins JS; Rogers RC; Phelan K; DuPont BR
    Genet Med; 2014 Apr; 16(4):318-28. PubMed ID: 24136618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.
    Sills ES; Burns MJ; Parker LD; Carroll LP; Kephart LL; Dyer CS; Papenhausen PR; Davis JG
    Orphanet J Rare Dis; 2007 Feb; 2():9. PubMed ID: 17295911
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P; Accadia M; Leone MP; Palladino T; Stallone R; Carella M; Palumbo O
    Am J Med Genet A; 2018 Feb; 176(2):391-398. PubMed ID: 29193617
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.
    Manning MA; Cassidy SB; Clericuzio C; Cherry AM; Schwartz S; Hudgins L; Enns GM; Hoyme HE
    Pediatrics; 2004 Aug; 114(2):451-7. PubMed ID: 15286229
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
    Nakane T; Kousuke N; Sonoko H; Yuko K; Sato H; Kubota T; Sugita K
    Pediatr Int; 2013 Jun; 55(3):376-81. PubMed ID: 23782370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study.
    Trabacca A; Losito L; De Rinaldis M; Gennaro L
    J Child Neurol; 2011 Feb; 26(2):235-8. PubMed ID: 20921566
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
    Prasad C; Prasad AN; Chodirker BN; Lee C; Dawson AK; Jocelyn LJ; Chudley AE
    Clin Genet; 2000 Feb; 57(2):103-9. PubMed ID: 10735630
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.