Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression

Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life th...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Wall, Palak B. [verfasserIn] Traboulsi, Elias I. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Optic nerve hypoplasia Morning Glory Coloboma Optic pit Optic nerve malformations Papillorenal syndrome Renal coloboma syndrome

Übergeordnetes Werk:	Enthalten in: Current neurology and neuroscience reports - Philadelphia, Pa. : Current Science Inc., 2001, 13(2013), 7 vom: 24. Mai
Übergeordnetes Werk:	volume:13 ; year:2013 ; number:7 ; day:24 ; month:05

Links:	Volltext

DOI / URN:	10.1007/s11910-013-0363-2

Katalog-ID:	SPR022975721

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520			\|a Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
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allfields	10.1007/s11910-013-0363-2 doi (DE-627)SPR022975721 (SPR)s11910-013-0363-2-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Wall, Palak B. verfasserin aut Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify. Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213 Traboulsi, Elias I. verfasserin aut Enthalten in Current neurology and neuroscience reports Philadelphia, Pa. : Current Science Inc., 2001 13(2013), 7 vom: 24. Mai (DE-627)35716833X (DE-600)2094171-7 1534-6293 nnns volume:13 year:2013 number:7 day:24 month:05 https://dx.doi.org/10.1007/s11910-013-0363-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 13 2013 7 24 05
spelling	10.1007/s11910-013-0363-2 doi (DE-627)SPR022975721 (SPR)s11910-013-0363-2-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Wall, Palak B. verfasserin aut Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify. Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213 Traboulsi, Elias I. verfasserin aut Enthalten in Current neurology and neuroscience reports Philadelphia, Pa. : Current Science Inc., 2001 13(2013), 7 vom: 24. Mai (DE-627)35716833X (DE-600)2094171-7 1534-6293 nnns volume:13 year:2013 number:7 day:24 month:05 https://dx.doi.org/10.1007/s11910-013-0363-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 13 2013 7 24 05
allfields_unstemmed	10.1007/s11910-013-0363-2 doi (DE-627)SPR022975721 (SPR)s11910-013-0363-2-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Wall, Palak B. verfasserin aut Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify. Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213 Traboulsi, Elias I. verfasserin aut Enthalten in Current neurology and neuroscience reports Philadelphia, Pa. : Current Science Inc., 2001 13(2013), 7 vom: 24. Mai (DE-627)35716833X (DE-600)2094171-7 1534-6293 nnns volume:13 year:2013 number:7 day:24 month:05 https://dx.doi.org/10.1007/s11910-013-0363-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 13 2013 7 24 05
allfieldsGer	10.1007/s11910-013-0363-2 doi (DE-627)SPR022975721 (SPR)s11910-013-0363-2-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Wall, Palak B. verfasserin aut Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify. Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213 Traboulsi, Elias I. verfasserin aut Enthalten in Current neurology and neuroscience reports Philadelphia, Pa. : Current Science Inc., 2001 13(2013), 7 vom: 24. Mai (DE-627)35716833X (DE-600)2094171-7 1534-6293 nnns volume:13 year:2013 number:7 day:24 month:05 https://dx.doi.org/10.1007/s11910-013-0363-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 13 2013 7 24 05
allfieldsSound	10.1007/s11910-013-0363-2 doi (DE-627)SPR022975721 (SPR)s11910-013-0363-2-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Wall, Palak B. verfasserin aut Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify. Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213 Traboulsi, Elias I. verfasserin aut Enthalten in Current neurology and neuroscience reports Philadelphia, Pa. : Current Science Inc., 2001 13(2013), 7 vom: 24. Mai (DE-627)35716833X (DE-600)2094171-7 1534-6293 nnns volume:13 year:2013 number:7 day:24 month:05 https://dx.doi.org/10.1007/s11910-013-0363-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 13 2013 7 24 05
language	English
source	Enthalten in Current neurology and neuroscience reports 13(2013), 7 vom: 24. Mai volume:13 year:2013 number:7 day:24 month:05
sourceStr	Enthalten in Current neurology and neuroscience reports 13(2013), 7 vom: 24. Mai volume:13 year:2013 number:7 day:24 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Optic nerve hypoplasia Morning Glory Coloboma Optic pit Optic nerve malformations Papillorenal syndrome Renal coloboma syndrome
dewey-raw	610
isfreeaccess_bool	false
container_title	Current neurology and neuroscience reports
authorswithroles_txt_mv	Wall, Palak B. @@aut@@ Traboulsi, Elias I. @@aut@@
publishDateDaySort_date	2013-05-24T00:00:00Z
hierarchy_top_id	35716833X
dewey-sort	3610
id	SPR022975721
language_de	englisch
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author	Wall, Palak B.
spellingShingle	Wall, Palak B. ddc 610 bkl 44.90 misc Optic nerve hypoplasia misc Morning Glory misc Coloboma misc Optic pit misc Optic nerve malformations misc Papillorenal syndrome misc Renal coloboma syndrome Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression
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topic_title	610 ASE 44.90 bkl Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression Optic nerve hypoplasia (dpeaa)DE-He213 Morning Glory (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Optic pit (dpeaa)DE-He213 Optic nerve malformations (dpeaa)DE-He213 Papillorenal syndrome (dpeaa)DE-He213 Renal coloboma syndrome (dpeaa)DE-He213
topic	ddc 610 bkl 44.90 misc Optic nerve hypoplasia misc Morning Glory misc Coloboma misc Optic pit misc Optic nerve malformations misc Papillorenal syndrome misc Renal coloboma syndrome
topic_unstemmed	ddc 610 bkl 44.90 misc Optic nerve hypoplasia misc Morning Glory misc Coloboma misc Optic pit misc Optic nerve malformations misc Papillorenal syndrome misc Renal coloboma syndrome
topic_browse	ddc 610 bkl 44.90 misc Optic nerve hypoplasia misc Morning Glory misc Coloboma misc Optic pit misc Optic nerve malformations misc Papillorenal syndrome misc Renal coloboma syndrome
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title	Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression
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title_full	Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression
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title_sort	congenital abnormalities of the optic nerve: from gene mutation to clinical expression
title_auth	Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression
abstract	Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
abstractGer	Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
abstract_unstemmed	Abstract Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
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title_short	Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression
url	https://dx.doi.org/10.1007/s11910-013-0363-2
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doi_str	10.1007/s11910-013-0363-2
up_date	2024-07-03T16:04:37.123Z
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Congenital Abnormalities of the Optic Nerve: From Gene Mutation to Clinical Expression

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