174 related articles for article (PubMed ID: 23453665)
1. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F; Aldahmesh MA; Alshammari MJ; Al-Hazzaa SA; Alkuraya FS
Am J Hum Genet; 2013 Mar; 92(3):387-91. PubMed ID: 23453665
[TBL] [Abstract][Full Text] [Related]
2. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
Chassaing N; Ragge N; Plaisancié J; Patat O; Geneviève D; Rivier F; Malrieu-Eliaou C; Hamel C; Kaplan J; Calvas P
Am J Med Genet A; 2016 Jul; 170(7):1895-8. PubMed ID: 27103084
[TBL] [Abstract][Full Text] [Related]
3. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J; Pehlivan D; Johansson S; Bengani H; Sanchez-Pulido L; Williamson KA; Ture M; Barker H; Rosendahl K; Spranger J; Horn D; Meynert A; Floyd JA; Prescott T; Anderson CA; Rainger JK; Karaca E; Gonzaga-Jauregui C; Jhangiani S; Muzny DM; Seawright A; Soares DC; Kharbanda M; Murday V; Finch A; ; ; Gibbs RA; van Heyningen V; Taylor MS; Yakut T; Knappskog PM; Hurles ME; Ponting CP; Lupski JR; Houge G; FitzPatrick DR
Am J Hum Genet; 2014 Jun; 94(6):915-23. PubMed ID: 24906020
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K; Hüning I; Obieglo C; Schwarzmayr T; Gabriel R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Am J Med Genet A; 2014 Aug; 164A(8):1976-80. PubMed ID: 24798461
[TBL] [Abstract][Full Text] [Related]
5. Homozygous null mutation in ODZ3 causes microphthalmia in humans.
Aldahmesh MA; Mohammed JY; Al-Hazzaa S; Alkuraya FS
Genet Med; 2012 Nov; 14(11):900-4. PubMed ID: 22766609
[TBL] [Abstract][Full Text] [Related]
6. Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
Brasseur B; Martin CM; Cayci Z; Burmeister L; Schimmenti LA
Am J Med Genet A; 2016 May; 170A(5):1302-7. PubMed ID: 26842768
[TBL] [Abstract][Full Text] [Related]
7. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott AF; Mohr DW; Kasch LM; Barton JA; Pittiglio R; Ingersoll R; Craig B; Marosy BA; Doheny KF; Bromley WC; Roderick TH; Chassaing N; Calvas P; Prabhu SS; Jabs EW
JAMA Ophthalmol; 2014 Oct; 132(10):1215-20. PubMed ID: 24993872
[TBL] [Abstract][Full Text] [Related]
8. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
Mégarbané A; Haddad-Zebouni S; Nabbout R; Khoury AH; Traboulsi EI
Am J Med Genet; 1999 Mar; 83(2):82-7. PubMed ID: 10190477
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L; Al-Owain MA; Busehail M; Alotaibi MA; Monies D; Aldhalaan HM; Alhashem A; Al-Hassnan ZN; Rahbeeni ZA; Murshedi FA; Ani NA; Al-Maawali A; Ibrahim NA; Abdulwahab FM; Alsagob M; Hashem MO; Ramadan W; Abouelhoda M; Meyer BF; Kaya N; Maddirevula S; Alkuraya FS
Am J Med Genet A; 2018 Mar; 176(3):715-721. PubMed ID: 29383837
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N; George A; Ratbi I; Schneider R; Elalaoui SC; Moosa S; Bharti S; Sharma R; Abu-Asab M; Onojafe F; Adadi N; Lodder EM; Laarabi FZ; Lamsyah Y; Elorch H; Chebbar I; Postma AV; Lougaris V; Plebani A; Altmueller J; Kyrieleis H; Meiner V; McNeill H; Bharti K; Lyonnet S; Wollnik B; Henrion-Caude A; Berraho A; Hildebrandt F; Bezzina CR; Brooks BP; Sefiani A
Nat Commun; 2019 Mar; 10(1):1180. PubMed ID: 30862798
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Roos L; Fang M; Dali C; Jensen H; Christoffersen N; Wu B; Zhang J; Xu R; Harris P; Xu X; Grønskov K; Tümer Z
Clin Genet; 2014 Sep; 86(3):276-81. PubMed ID: 24024553
[TBL] [Abstract][Full Text] [Related]
14.
Alfiya F; Jose M; Chandrasekharan SV; Sundaram S; Urulangodi M; Thomas B; Radhakrishnan A; Banerjee M; Menon RN
J Genet; 2022; 101():. PubMed ID: 35791610
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
[TBL] [Abstract][Full Text] [Related]
16. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Ali M; Buentello-Volante B; McKibbin M; Rocha-Medina JA; Fernandez-Fuentes N; Koga-Nakamura W; Ashiq A; Khan K; Booth AP; Williams G; Raashid Y; Jafri H; Rice A; Inglehearn CF; Zenteno JC
Mol Vis; 2010 Jun; 16():1162-8. PubMed ID: 20664696
[TBL] [Abstract][Full Text] [Related]
17. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.
Goldberg MF; McKusick VA
Am J Ophthalmol; 1971 May; 71(5):1128-33. PubMed ID: 4998085
[No Abstract] [Full Text] [Related]
18. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B; Reis LM; Lemyre E; Clark RD; Kariminejad A; Semina EV
Eur J Hum Genet; 2016 Apr; 24(4):535-41. PubMed ID: 26130484
[TBL] [Abstract][Full Text] [Related]
19. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Basel-Vanagaite L; Yilmaz R; Tang S; Reuter MS; Rahner N; Grange DK; Mortenson M; Koty P; Feenstra H; Farwell Gonzalez KD; Sticht H; Boddaert N; Désir J; Anyane-Yeboa K; Zweier C; Reis A; Kubisch C; Jewett T; Zeng W; Borck G
Hum Genet; 2014 Jul; 133(7):939-49. PubMed ID: 24615390
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
