BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 26995144)

  • 41. MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.
    Cubuk PO; Ho L; Reversade B; Perçin EF
    Genet Couns; 2016; 27(3):405-410. PubMed ID: 30204971
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
    Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
    Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
    Li J; Yang W; Wang YJ; Ma C; Curry CJ; McGoldrick D; Nickerson DA; Chong JX; Blue EE; Mullikin JC; Reefhuis J; Nembhard WN; Romitti PA; Werler MM; Browne ML; Olshan AF; Finnell RH; Feldkamp ML; Pangilinan F; Almli LM; Bamshad MJ; Brody LC; Jenkins MM; Shaw GM; ; ;
    Am J Med Genet A; 2022 Aug; 188(8):2376-2388. PubMed ID: 35716026
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
    Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
    JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Novel
    Panagiotou ES; Fernandez-Fuentes N; Farraj LA; McKibbin M; Elçioglu NH; Jafri H; Cerman E; Parry DA; Logan CV; Johnson CA; Inglehearn CF; Toomes C; Ali M
    Mol Vis; 2022; 28():57-69. PubMed ID: 35693420
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
    Mory A; Ruiz FX; Dagan E; Yakovtseva EA; Kurolap A; Parés X; Farrés J; Gershoni-Baruch R
    Eur J Hum Genet; 2014 Mar; 22(3):419-22. PubMed ID: 23881059
    [TBL] [Abstract][Full Text] [Related]  

  • 47. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
    Casey J; Kawaguchi R; Morrissey M; Sun H; McGettigan P; Nielsen JE; Conroy J; Regan R; Kenny E; Cormican P; Morris DW; Tormey P; Chróinín MN; Kennedy BN; Lynch S; Green A; Ennis S
    Hum Mutat; 2011 Dec; 32(12):1417-26. PubMed ID: 21901792
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
    Islam F; Htun S; Lai LW; Krall M; Poranki M; Martin PM; Sobreira N; Wohler ES; Yu J; Moore AT; Slavotinek AM
    Clin Genet; 2020 Nov; 98(5):499-506. PubMed ID: 32799327
    [TBL] [Abstract][Full Text] [Related]  

  • 49. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
    Bakrania P; Robinson DO; Bunyan DJ; Salt A; Martin A; Crolla JA; Wyatt A; Fielder A; Ainsworth J; Moore A; Read S; Uddin J; Laws D; Pascuel-Salcedo D; Ayuso C; Allen L; Collin JR; Ragge NK
    Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
    Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
    Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.
    White T; Lu T; Metlapally R; Katowitz J; Kherani F; Wang TY; Tran-Viet KN; Young TL
    Mol Vis; 2008; 14():2458-65. PubMed ID: 19112531
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.
    Gallardo ME; Rodríguez De Córdoba S; Schneider AS; Dwyer MA; Ayuso C; Bovolenta P
    Am J Med Genet A; 2004 Aug; 129A(1):92-4. PubMed ID: 15266624
    [No Abstract]   [Full Text] [Related]  

  • 53. Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
    Tibrewal S; Subhedar K; Sen P; Mohan A; Singh S; Shah C; Nischal KK; Ganesh S;
    Br J Ophthalmol; 2021 Jul; 105(7):897-903. PubMed ID: 32829301
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of PITX3 mutations in individuals with various ocular developmental defects.
    Zazo Seco C; Plaisancié J; Lupasco T; Michot C; Pechmeja J; Delanne J; Cottereau E; Ayuso C; Corton M; Calvas P; Ragge N; Chassaing N
    Ophthalmic Genet; 2018 Jun; 39(3):314-320. PubMed ID: 29405783
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
    Marcadier JL; Mears AJ; Woods EA; Fisher J; Airheart C; Qin W; Beaulieu CL; Dyment DA; Innes AM; Curry CJ;
    Am J Med Genet A; 2016 Jan; 170A(1):11-8. PubMed ID: 26373900
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
    Iseri SU; Wyatt AW; Nürnberg G; Kluck C; Nürnberg P; Holder GE; Blair E; Salt A; Ragge NK
    Hum Genet; 2010 Jul; 128(1):51-60. PubMed ID: 20414678
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
    Pasutto F; Flinter F; Rauch A; Reis A
    Am J Med Genet A; 2018 Jan; 176(1):134-138. PubMed ID: 29168296
    [No Abstract]   [Full Text] [Related]  

  • 58. A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families.
    Dehghani M; Dehghan Tezerjani M; Metanat Z; Vahidi Mehrjardi MY
    Int J Mol Cell Med; 2017; 6(2):131-134. PubMed ID: 28890889
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
    Choi A; Lao R; Ling-Fung Tang P; Wan E; Mayer W; Bardakjian T; Shaw GM; Kwok PY; Schneider A; Slavotinek A
    Eur J Hum Genet; 2015 Mar; 23(3):337-41. PubMed ID: 24939590
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.
    Roos L; Jensen H; Grønskov K; Holst R; Tümer Z
    Ophthalmic Epidemiol; 2016 Oct; 23(5):324-30. PubMed ID: 27552085
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.