160 related articles for article (PubMed ID: 18393239)
81. Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.
Fernandes-Lima ZS; Paixão-Côrtes VR; Andrade AK; Fernandes AS; Coronado BN; Monte Filho HP; Santos MJ; Omena Filho RL; Biondi FC; Ruiz-Linares A; Ramallo V; Hünemeier T; Schuler-Faccini L; Monlleó IL
Clin Genet; 2015; 87(1):68-73. PubMed ID: 24266705
[TBL] [Abstract][Full Text] [Related]
82. PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Peter NM; Leyland M; Mudhar HS; Lowndes J; Owen KR; Stewart H
Clin Exp Ophthalmol; 2013 Dec; 41(9):835-41. PubMed ID: 23566044
[TBL] [Abstract][Full Text] [Related]
83. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).
Wen JH; Chen YY; Song SJ; Ding J; Gao Y; Hu QK; Feng RP; Liu YZ; Ren GC; Zhang CY; Hong TP; Gao X; Li LS
Diabetologia; 2009 Mar; 52(3):504-13. PubMed ID: 19034419
[TBL] [Abstract][Full Text] [Related]
84. Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
Kondo-Saitoh A; Matsumoto N; Sasaki T; Egashira M; Saitoh A; Yamada K; Niikawa N; Amemiya T
Eur J Ophthalmol; 2000; 10(2):167-72. PubMed ID: 10887930
[TBL] [Abstract][Full Text] [Related]
85. PAX6 mutations identified in 4 of 35 families with microcornea.
Wang P; Sun W; Li S; Xiao X; Guo X; Zhang Q
Invest Ophthalmol Vis Sci; 2012 Sep; 53(10):6338-42. PubMed ID: 22893676
[TBL] [Abstract][Full Text] [Related]
86. [Two neonates with congenital aniridia: the necessity of genetic investigation].
van Os E; Niemarkt HJ; Verreussel MJ; Cruysberg JR; Bok LA; Spruijt L
Ned Tijdschr Geneeskd; 2008 Mar; 152(10):569-73. PubMed ID: 18402324
[TBL] [Abstract][Full Text] [Related]
87. PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Malandrini A; Mari F; Palmeri S; Gambelli S; Berti G; Bruttini M; Bardelli AM; Williamson K; van Heyningen V; Renieri A
Clin Genet; 2001 Aug; 60(2):151-4. PubMed ID: 11553050
[TBL] [Abstract][Full Text] [Related]
88. Isolated aniridia caused by a novel
Torrefranca AB; Carmona SM; Santiago APD; Cutiongco-Dela Paz E; Lingao MD
Ophthalmic Genet; 2023 Oct; 44(5):501-504. PubMed ID: 36440799
[TBL] [Abstract][Full Text] [Related]
89. A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.
Guo H; Dai L; Huang Y; Liao Q; Bai Y
PLoS One; 2013; 8(12):e83073. PubMed ID: 24349436
[TBL] [Abstract][Full Text] [Related]
90. A new PAX6 mutation in familial aniridia.
Hanson I; Brown A; van Heyningen V
J Med Genet; 1995 Jun; 32(6):488-9. PubMed ID: 7666404
[TBL] [Abstract][Full Text] [Related]
91. A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.
Nishi M; Sasahara M; Shono T; Saika S; Yamamoto Y; Ohkawa K; Furuta H; Nakao T; Sasaki H; Nanjo K
Diabet Med; 2005 May; 22(5):641-4. PubMed ID: 15842522
[TBL] [Abstract][Full Text] [Related]
92. [Genetics of congenital aniridia].
Neuhaus C; Betz C; Bergmann C; Bolz HJ
Ophthalmologe; 2014 Dec; 111(12):1157-63. PubMed ID: 25475187
[TBL] [Abstract][Full Text] [Related]
93. [Congenital aniridia or PAX6 syndrome].
Käsmann-Kellner B; Seitz B
Ophthalmologe; 2014 Dec; 111(12):1144. PubMed ID: 25475186
[No Abstract] [Full Text] [Related]
94. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
Yahalom C; Sharon D; Dalia E; Simhon SB; Shemesh E; Blumenfeld A
Ophthalmic Genet; 2015 Jun; 36(2):175-9. PubMed ID: 25687215
[TBL] [Abstract][Full Text] [Related]
95. A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.
Beby F; Dieterich K; Calvas P
Eye (Lond); 2011 May; 25(5):657-8. PubMed ID: 21274015
[No Abstract] [Full Text] [Related]
96. Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
Shimo N; Yasuda T; Kitamura T; Matsushita K; Osawa S; Yamamoto Y; Kozawa J; Otsuki M; Funahashi T; Imagawa A; Kaneto H; Nishida K; Shimomura I
Intern Med; 2014; 53(1):39-42. PubMed ID: 24390526
[TBL] [Abstract][Full Text] [Related]
97. Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
Sale MM; Craig JE; Charlesworth JC; FitzGerald LM; Hanson IM; Dickinson JL; Matthews SJ; Heyningen Vv Vv; Fingert JH; Mackey DA
Hum Mutat; 2002 Oct; 20(4):322. PubMed ID: 12325030
[TBL] [Abstract][Full Text] [Related]
98. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
Henderson RA; Williamson K; Cumming S; Clarke MP; Lynch SA; Hanson IM; FitzPatrick DR; Sisodiya S; van Heyningen V
Eur J Hum Genet; 2007 Aug; 15(8):898-901. PubMed ID: 17406642
[TBL] [Abstract][Full Text] [Related]
99. Relative Frequencies of
Vasilyeva TA; Marakhonov AV; Kutsev SI; Zinchenko RA
Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743132
[TBL] [Abstract][Full Text] [Related]
100. Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY; Huff V; Strong LC; Saunders GF
Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]