BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 25118001)

  • 21. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W; Probst FJ; Wiszniewska J; Plunkett K; Roney EK; Carter BS; Williams MD; Stankiewicz P; Patel A; Stevens CA; Lupski JR; Cheung SW
    J Med Genet; 2012 Nov; 49(11):681-8. PubMed ID: 23042811
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
    Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G
    Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF; Lebas F; Gruchy N; Ardalan A; Biran-Mucignat V; Malan V; Finkel L; Roger G; Ducrocq S; Gold F; Taillemite JL; Marlin S
    Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18.
    Turbiville DE; Wu H; Dong J
    Lab Med; 2017 Nov; 48(4):372-375. PubMed ID: 29036626
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 22q11.2 duplications: Expanding the clinical presentation.
    Bartik LE; Hughes SS; Tracy M; Feldt MM; Zhang L; Arganbright J; Kaye A
    Am J Med Genet A; 2022 Mar; 188(3):779-787. PubMed ID: 34845825
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Unolt M; DiCairano L; Schlechtweg K; Barry J; Howell L; Kasperski S; Nance M; Adzick NS; Zackai EH; McDonald-McGinn DM
    Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
    Soysal Y; Vermeesch J; Davani NA; Şensoy N; Hekimler K; İmirzalıoğlu N
    Genet Mol Res; 2011 Sep; 10(3):2148-54. PubMed ID: 21968682
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
    Martin-Nalda A; Cueto-González AM; Argudo-Ramírez A; Marin-Soria JL; Martinez-Gallo M; Colobran R; Plaja A; Castells N; Riviere J; Tizzano EF; Soler-Palacin P
    Mol Genet Genomic Med; 2019 Dec; 7(12):e1016. PubMed ID: 31663686
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.
    Vincent MC; Heitz F; Tricoire J; Bourrouillou G; Kuhlein E; Rolland M; Calvas P
    Genet Couns; 1999; 10(1):43-9. PubMed ID: 10191428
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
    Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
    BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
    Beaman GM; Woolf AS; Cervellione RM; Keene D; Mushtaq I; Urquhart JE; Stuart HM; Newman WG
    Am J Med Genet A; 2019 Mar; 179(3):404-409. PubMed ID: 30628148
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
    Hu P; Ji X; Yang C; Zhang J; Lin Y; Cheng J; Ma D; Cao L; Yi L; Xu Z
    Eur J Med Genet; 2011; 54(4):e433-6. PubMed ID: 21473936
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
    Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
    J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Evidence that duplications of 22q11.2 protect against schizophrenia.
    Rees E; Kirov G; Sanders A; Walters JT; Chambert KD; Shi J; Szatkiewicz J; O'Dushlaine C; Richards AL; Green EK; Jones I; Davies G; Legge SE; Moran JL; Pato C; Pato M; Genovese G; Levinson D; Duan J; Moy W; Göring HH; Morris D; Cormican P; Kendler KS; O'Neill FA; Riley B; Gill M; Corvin A; ; Craddock N; Sklar P; Hultman C; Sullivan PF; Gejman PV; McCarroll SA; O'Donovan MC; Owen MJ
    Mol Psychiatry; 2014 Jan; 19(1):37-40. PubMed ID: 24217254
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
    Lin S; Zheng X; Gu H; Li M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):393-397. PubMed ID: 28604963
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
    Cotter PD; Nguyen H; Tung G; Rauen KA
    Eur J Hum Genet; 2005 Dec; 13(12):1245-6. PubMed ID: 16175191
    [No Abstract]   [Full Text] [Related]  

  • 37. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
    Woodward KJ; Stampalia J; Vanyai H; Rijhumal H; Potts K; Taylor F; Peverall J; Grumball T; Sivamoorthy S; Alinejad-Rokny H; Wray J; Whitehouse A; Nagarajan L; Scurlock J; Afchani S; Edwards M; Murch A; Beilby J; Baynam G; Kiraly-Borri C; McKenzie F; Heng JIT
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00507. PubMed ID: 30614210
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The 22q11.2 deletion syndrome: more answers but more questions.
    Fernhoff PM
    J Pediatr; 2000 Aug; 137(2):145-7. PubMed ID: 10931401
    [No Abstract]   [Full Text] [Related]  

  • 39. PDD-NOS, psychotic features and executive function deficits in a boy with proximal 22q11.2 microduplication: Evolution of the psychiatric symptom profile from childhood to adolescence.
    Woestelandt L; Novo A; Philippe A; Guyaux N; Rio M; Romano S; Robel L
    Eur J Med Genet; 2018 May; 61(5):280-283. PubMed ID: 29307791
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M; Yang YS; Shih JC; Lin WH; Lee DJ; Lin YS; Chou CH; Cameron AD; Ginsberg NA; Chen CA; Lee ML; Ma GC
    Ultrasound Obstet Gynecol; 2014 Apr; 43(4):396-403. PubMed ID: 23828768
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.