BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 22639460)

  • 1. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
    Tzschach A; Grasshoff U; Schäferhoff K; Bonin M; Dufke A; Wolff M; Haas-Lude K; Bevot A; Riess O
    Am J Med Genet A; 2012 Jul; 158A(7):1709-12. PubMed ID: 22639460
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.
    Giordano M; Gertosio C; Pagani S; Meazza C; Fusco I; Bozzola E; Bozzola M
    BMC Med Genet; 2015 Sep; 16():74. PubMed ID: 26323392
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
    Johansson S; Berland S; Gradek GA; Bongers E; de Leeuw N; Pfundt R; Fannemel M; Rødningen O; Brendehaug A; Haukanes BI; Hovland R; Helland G; Houge G
    Am J Med Genet A; 2014 Jul; 164A(7):1622-6. PubMed ID: 24678003
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
    Riess A; Grasshoff U; Schäferhoff K; Bonin M; Riess O; Horber V; Tzschach A
    Am J Med Genet A; 2012 Oct; 158A(10):2587-90. PubMed ID: 22965684
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
    Campbell IM; Yatsenko SA; Hixson P; Reimschisel T; Thomas M; Wilson W; Dayal U; Wheless JW; Crunk A; Curry C; Parkinson N; Fishman L; Riviello JJ; Nowaczyk MJ; Zeesman S; Rosenfeld JA; Bejjani BA; Shaffer LG; Cheung SW; Lupski JR; Stankiewicz P; Scaglia F
    Genet Med; 2012 Oct; 14(10):868-76. PubMed ID: 22722545
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
    Tuğ E; Ergün MA; Perçin EF
    Turk J Pediatr; 2018; 60(1):94-98. PubMed ID: 30102487
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
    Mizuno S; Fukushi D; Kimura R; Yamada K; Yamada Y; Kumagai T; Wakamatsu N
    Am J Med Genet A; 2011 Sep; 155A(9):2274-80. PubMed ID: 21834029
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
    Rush ET; Stevens JM; Sanger WG; Olney AH
    Am J Med Genet A; 2013 Jul; 161A(7):1726-32. PubMed ID: 23696251
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
    Yamanishi T; Nishio J; Miya S; Okamoto N; Takahashi A; Toribe Y; Mukai T; Kobayashi C
    Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
    Peltekova IT; Hurteau-Millar J; Armour CM
    Am J Med Genet A; 2014 Dec; 164A(12):3132-6. PubMed ID: 25257335
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
    Dugan SL; Panza E; Openshaw A; Botto LD; Camacho JA; Toydemir RM
    Am J Med Genet A; 2018 Dec; 176(12):2901-2906. PubMed ID: 30346094
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
    Papadopoulou E; Sismani C; Christodoulou C; Ioannides M; Kalmanti M; Patsalis P
    Am J Med Genet A; 2010 Jun; 152A(6):1515-22. PubMed ID: 20503328
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.
    Leal T; Andrieux J; Duban-Bedu B; Bouquillon S; Brevière GM; Delobel B
    Eur J Med Genet; 2009; 52(1):62-6. PubMed ID: 19022414
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.
    Osoegawa K; Vessere GM; Utami KH; Mansilla MA; Johnson MK; Riley BM; L'Heureux J; Pfundt R; Staaf J; van der Vliet WA; Lidral AC; Schoenmakers EF; Borg A; Schutte BC; Lammer EJ; Murray JC; de Jong PJ
    J Med Genet; 2008 Feb; 45(2):81-6. PubMed ID: 17873121
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
    Kuroda Y; Ohashi I; Saito T; Nagai J; Ida K; Naruto T; Iai M; Kurosawa K
    Am J Med Genet A; 2014 Aug; 164A(8):2104-8. PubMed ID: 24801133
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
    Kobayashi J; Kimijima Y; Yamada S; Amagasa T; Saito-Ohara F
    J Craniomaxillofac Surg; 2000 Jun; 28(3):165-70. PubMed ID: 10964553
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
    Fernández Hernández L; Alcántara Ortigoza MA; Ramos Angeles SE; González-Del Angel A
    Cytogenet Genome Res; 2021; 161(12):556-563. PubMed ID: 35021179
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P; Faivre L; Marle N; Thauvin-Robinet C; Mosca AL; Masurel-Paulet A; Borgnon J; Falcon-Eicher S; Danino A; Malka G; Le Merrer M; Huet F; Mugneret F
    Eur J Med Genet; 2007; 50(6):455-64. PubMed ID: 17720646
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
    Harada N; Visser R; Dawson A; Fukamachi M; Iwakoshi M; Okamoto N; Kishino T; Niikawa N; Matsumoto N
    J Hum Genet; 2004; 49(8):440-444. PubMed ID: 15258833
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.