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 *

165 related articles for article (PubMed ID: 18412111)

  • 1. Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
    Monnot S; Giuliano F; Massol C; Fossoud C; Cossée M; Lambert JC; Karmous-Benailly H
    Am J Med Genet A; 2008 May; 146A(10):1325-9. PubMed ID: 18412111
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
    Portnoï MF; Bouayed-Abdelmoula N; Mirc M; Zemni R; Castaing H; Stephann J; Ardalan A; Vialard F; Nouchy M; Daoud P; Chelly J; Taillemite JL
    Clin Genet; 2000 Aug; 58(2):116-22. PubMed ID: 11005144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
    Holden ST; Clarkson A; Thomas NS; Abbott K; James MR; Willatt L
    Am J Med Genet A; 2010 Jul; 152A(7):1735-40. PubMed ID: 20578133
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
    Matsuo M; Muroya K; Kosaki K; Ishii T; Fukushima Y; Anzo M; Ogata T
    Am J Med Genet; 1999 Sep; 86(1):44-50. PubMed ID: 10440827
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome.
    Kokalj Vokac N; Seme Ciglenecki P; Erjavec A; Zagradisnik B; Zagorac A
    Clin Genet; 2002 Jan; 61(1):54-61. PubMed ID: 11903357
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome.
    Myszka A; Karpinski P; Makowska I; Lassota M; Przelozna B; Slezak R; Sasiadek MM
    J Appl Genet; 2010; 51(3):331-5. PubMed ID: 20720308
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.
    Bonnet C; Grégoire MJ; Brochet K; Raffo E; Leheup B; Jonveaux P
    J Hum Genet; 2006; 51(9):815. PubMed ID: 16900295
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
    Evers C; Mitter D; Strobl-Wildemann G; Haug U; Hackmann K; Maas B; Janssen JW; Jauch A; Hinderhofer K; Moog U
    Am J Med Genet A; 2015 Mar; 167A(3):553-62. PubMed ID: 25691408
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
    Cheng SF; Rauen KA; Pinkel D; Albertson DG; Cotter PD
    Am J Med Genet A; 2005 Jun; 135(3):308-13. PubMed ID: 15887264
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.
    Di-Battista A; Meloni VA; da Silva MD; Moysés-Oliveira M; Melaragno MI
    Am J Med Genet A; 2016 Dec; 170(12):3271-3275. PubMed ID: 27605428
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
    Stankiewicz P; Thiele H; Schlicker M; Cseke-Friedrich A; Bartel-Friedrich S; Yatsenko SA; Lupski JR; Hansmann I
    Am J Med Genet A; 2005 Sep; 138(1):11-7. PubMed ID: 16097007
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.
    Zou YS; Milunsky JM
    Am J Med Genet A; 2009 Nov; 149A(11):2573-7. PubMed ID: 19876908
    [No Abstract]   [Full Text] [Related]  

  • 13. Autism in two females with duplications involving Xp11.22-p11.23.
    Edens AC; Lyons MJ; Duron RM; Dupont BR; Holden KR
    Dev Med Child Neurol; 2011 May; 53(5):463-6. PubMed ID: 21418194
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.
    Gruchy N; Jacquemont ML; Lyonnet S; Labrune P; El Kamel I; Siffroi JP; Portnoï MF
    Am J Med Genet A; 2007 Oct; 143A(20):2417-22. PubMed ID: 17853488
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional disomy of Xp: prenatal findings and postnatal outcome.
    Kolomietz E; Godbole K; Winsor EJ; Stockley T; Seaward G; Chitayat D
    Am J Med Genet A; 2005 May; 134(4):393-8. PubMed ID: 15793841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
    Armstrong L; McGowan-Jordan J; Brierley K; Allanson JE
    Am J Med Genet A; 2003 Jan; 116A(1):71-6. PubMed ID: 12476455
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
    Tomkins DJ; McDonald HL; Farrell SA; Brown CJ
    Eur J Hum Genet; 2002 Jan; 10(1):44-51. PubMed ID: 11896455
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
    Sanlaville D; Vialard F; Thépot F; Vue-Droy L; Ardalan A; Nizard P; Corré A; Devauchelle B; Martin-Denavit T; Nouchy M; Malan V; Taillemite JL; Portnoï MF
    Am J Med Genet A; 2004 Jul; 128A(3):325-30. PubMed ID: 15216557
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Distal Xq duplication and functional Xq disomy.
    Sanlaville D; Schluth-Bolard C; Turleau C
    Orphanet J Rare Dis; 2009 Feb; 4():4. PubMed ID: 19232094
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
    Chung BH; Drmic I; Marshall CR; Grafodatskaya D; Carter M; Fernandez BA; Weksberg R; Roberts W; Scherer SW
    Eur J Med Genet; 2011; 54(5):e516-20. PubMed ID: 21689796
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.