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1by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a...”
Published 2017-10-01
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2by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo“... utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder...”
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3by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its...”
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4by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner...”
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5by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner...”
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6by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive...”
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7by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown...”
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8by Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F...”
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9by Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Di Nicola Maura, Viola Francesco, Colombo Leonardo, Bertelli Matteo“... utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited...”
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10by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Mendelian cataract (MC). MC is caused by variations in the AGK, BFSP1...”
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11by Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“...Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity...”
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12by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3...”
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13by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive...”
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14by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive...”
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15by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for familial exudative vitreoretinopathy (FEVR). There is insufficient data...”
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16by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males...”
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17by Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations...”
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18by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited...”
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19by Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive...”
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20by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive...”
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