BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 29168296)

  • 41. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
    Abouzeid H; Favez T; Schmid A; Agosti C; Youssef M; Marzouk I; El Shakankiry N; Bayoumi N; Munier FL; Schorderet DF
    Hum Mutat; 2014 Aug; 35(8):949-53. PubMed ID: 24777706
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
    Semerci CN; Kalay E; Yıldırım C; Dinçer T; Olmez A; Toraman B; Koçyiğit A; Bulgu Y; Okur V; Satıroğlu-Tufan L; Akarsu NA
    Br J Ophthalmol; 2014 Jun; 98(6):832-40. PubMed ID: 24568872
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Congenital eye anomalies: More mosaic than thought?
    Ohuchi H; Sato K; Habuta M; Fujita H; Bando T
    Congenit Anom (Kyoto); 2019 May; 59(3):56-73. PubMed ID: 30039880
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Mutations in ALDH1A3 cause microphthalmia.
    Aldahmesh MA; Khan AO; Hijazi H; Alkuraya FS
    Clin Genet; 2013 Aug; 84(2):128-31. PubMed ID: 23646827
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
    West B; Bove KE; Slavotinek AM
    Am J Med Genet A; 2009 Mar; 149A(3):539-42. PubMed ID: 19213032
    [No Abstract]   [Full Text] [Related]  

  • 46. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N; Causse A; Vigouroux A; Delahaye A; Alessandri JL; Boespflug-Tanguy O; Boute-Benejean O; Dollfus H; Duban-Bedu B; Gilbert-Dussardier B; Giuliano F; Gonzales M; Holder-Espinasse M; Isidor B; Jacquemont ML; Lacombe D; Martin-Coignard D; Mathieu-Dramard M; Odent S; Picone O; Pinson L; Quelin C; Sigaudy S; Toutain A; Thauvin-Robinet C; Kaplan J; Calvas P
    Clin Genet; 2014 Oct; 86(4):326-34. PubMed ID: 24033328
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
    Nowilaty SR; Khan AO; Aldahmesh MA; Tabbara KF; Al-Amri A; Alkuraya FS
    Am J Ophthalmol; 2013 Feb; 155(2):361-372.e7. PubMed ID: 23127749
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Genetics of microphthalmos.
    Warburg M
    Int Ophthalmol; 1981 Aug; 4(1-2):45-65. PubMed ID: 6795139
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.
    Slavotinek A
    Hum Genet; 2019 Sep; 138(8-9):831-846. PubMed ID: 30374660
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    Ng D; Hadley DW; Tifft CJ; Biesecker LG
    Am J Med Genet; 2002 Jul; 110(4):308-14. PubMed ID: 12116202
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
    Ng WY; Pasutto F; Bardakjian TM; Wilson MJ; Watson G; Schneider A; Mackey DA; Grigg JR; Zenker M; Jamieson RV
    Clin Genet; 2013 Feb; 83(2):162-8. PubMed ID: 22283518
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
    Lin S; Harlalka GV; Hameed A; Reham HM; Yasin M; Muhammad N; Khan S; Baple EL; Crosby AH; Saleha S
    BMC Med Genet; 2018 Sep; 19(1):160. PubMed ID: 30200890
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Congenital linear streaks on the face and neck and microphthalmia in an infant girl.
    Kluger N; Bouissou A; Tauzin L; Puechberty J; Dereure O
    Acta Derm Venereol; 2014 May; 94(3):342-3. PubMed ID: 24096629
    [No Abstract]   [Full Text] [Related]  

  • 54. 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]  

  • 55. Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
    Cortés-González V; Zenteno JC; Guzmán-Sánchez M; Giordano-Herrera V; Guadarrama-Vallejo D; Ruíz-Quintero N; Villanueva-Mendoza C
    Am J Med Genet A; 2016 Dec; 170(12):3294-3297. PubMed ID: 27604145
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).
    Li L; Wei J
    Am J Med Genet A; 2006 Jul; 140(14):1564-6. PubMed ID: 16761298
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
    Kotecha U; Mistri M; Shah N; Shah PS; Gupta VA
    Clin Genet; 2021 Dec; 100(6):748-751. PubMed ID: 34424553
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
    Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC
    Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
    [TBL] [Abstract][Full Text] [Related]  

  • 59. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
    Errichiello E; Mustafa N; Vetro A; Notarangelo LD; de Jonge H; Rinaldi B; Vergani D; Giglio SR; Morbini P; Zuffardi O
    J Pathol; 2017 Sep; 243(1):9-15. PubMed ID: 28608987
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.
    Aldahmesh MA; Nowilaty SR; Alzahrani F; Al-Ebdi L; Mohamed JY; Rajab M; Khan AO; Alkuraya FS
    Arch Ophthalmol; 2011 Jun; 129(6):805-7. PubMed ID: 21670352
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.