Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisa...
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
1999 |
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| Umfang: |
3 |
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Springer Online Journal Archives 1860-2002 |
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| Übergeordnetes Werk: |
in: Human genetics |
| Übergeordnetes Werk: |
volume:104 ; year:1999 ; month:01 ; pages:108-110 ; extent:3 |
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| 520 | |a Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. | ||
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| 700 | 1 | |a Paleari, L. |4 oth | |
| 700 | 1 | |a Bolino, Alessandra |4 oth | |
| 700 | 1 | |a Priolo, Manuela |4 oth | |
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| 700 | 1 | |a Lerone, Margherita |4 oth | |
| 700 | 1 | |a Cama, Armando |4 oth | |
| 700 | 1 | |a Torre, Michele |4 oth | |
| 700 | 1 | |a Guys, Jean Michel |4 oth | |
| 700 | 1 | |a Romeo, Giovanni |4 oth | |
| 700 | 1 | |a Jasonni, Vincenzo |4 oth | |
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(DE-627)NLEJ205569617 DE-627 ger DE-627 rakwb eng Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 1999 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. Springer Online Journal Archives 1860-2002 Seri, M. oth Martucciello, Giuseppe oth Paleari, L. oth Bolino, Alessandra oth Priolo, Manuela oth Salemi, Giuseppe oth Forabosco, Paola oth Caroli, Francesco oth Cusano, Roberto oth Tocco, Tatiana oth Lerone, Margherita oth Cama, Armando oth Torre, Michele oth Guys, Jean Michel oth Romeo, Giovanni oth Jasonni, Vincenzo oth in Human genetics <Berlin> 1964 104(1999) vom: Jan., Seite 108-110 (DE-627)NLEJ188992812 (DE-600)1459188-1 1432-1203 nnns volume:104 year:1999 month:01 pages:108-110 extent:3 http://dx.doi.org/10.1007/s004390050919 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 104 1999 1 108-110 3 |
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(DE-627)NLEJ205569617 DE-627 ger DE-627 rakwb eng Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 1999 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. Springer Online Journal Archives 1860-2002 Seri, M. oth Martucciello, Giuseppe oth Paleari, L. oth Bolino, Alessandra oth Priolo, Manuela oth Salemi, Giuseppe oth Forabosco, Paola oth Caroli, Francesco oth Cusano, Roberto oth Tocco, Tatiana oth Lerone, Margherita oth Cama, Armando oth Torre, Michele oth Guys, Jean Michel oth Romeo, Giovanni oth Jasonni, Vincenzo oth in Human genetics <Berlin> 1964 104(1999) vom: Jan., Seite 108-110 (DE-627)NLEJ188992812 (DE-600)1459188-1 1432-1203 nnns volume:104 year:1999 month:01 pages:108-110 extent:3 http://dx.doi.org/10.1007/s004390050919 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 104 1999 1 108-110 3 |
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(DE-627)NLEJ205569617 DE-627 ger DE-627 rakwb eng Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 1999 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. Springer Online Journal Archives 1860-2002 Seri, M. oth Martucciello, Giuseppe oth Paleari, L. oth Bolino, Alessandra oth Priolo, Manuela oth Salemi, Giuseppe oth Forabosco, Paola oth Caroli, Francesco oth Cusano, Roberto oth Tocco, Tatiana oth Lerone, Margherita oth Cama, Armando oth Torre, Michele oth Guys, Jean Michel oth Romeo, Giovanni oth Jasonni, Vincenzo oth in Human genetics <Berlin> 1964 104(1999) vom: Jan., Seite 108-110 (DE-627)NLEJ188992812 (DE-600)1459188-1 1432-1203 nnns volume:104 year:1999 month:01 pages:108-110 extent:3 http://dx.doi.org/10.1007/s004390050919 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 104 1999 1 108-110 3 |
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(DE-627)NLEJ205569617 DE-627 ger DE-627 rakwb eng Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 1999 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. Springer Online Journal Archives 1860-2002 Seri, M. oth Martucciello, Giuseppe oth Paleari, L. oth Bolino, Alessandra oth Priolo, Manuela oth Salemi, Giuseppe oth Forabosco, Paola oth Caroli, Francesco oth Cusano, Roberto oth Tocco, Tatiana oth Lerone, Margherita oth Cama, Armando oth Torre, Michele oth Guys, Jean Michel oth Romeo, Giovanni oth Jasonni, Vincenzo oth in Human genetics <Berlin> 1964 104(1999) vom: Jan., Seite 108-110 (DE-627)NLEJ188992812 (DE-600)1459188-1 1432-1203 nnns volume:104 year:1999 month:01 pages:108-110 extent:3 http://dx.doi.org/10.1007/s004390050919 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 104 1999 1 108-110 3 |
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(DE-627)NLEJ205569617 DE-627 ger DE-627 rakwb eng Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 1999 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. Springer Online Journal Archives 1860-2002 Seri, M. oth Martucciello, Giuseppe oth Paleari, L. oth Bolino, Alessandra oth Priolo, Manuela oth Salemi, Giuseppe oth Forabosco, Paola oth Caroli, Francesco oth Cusano, Roberto oth Tocco, Tatiana oth Lerone, Margherita oth Cama, Armando oth Torre, Michele oth Guys, Jean Michel oth Romeo, Giovanni oth Jasonni, Vincenzo oth in Human genetics <Berlin> 1964 104(1999) vom: Jan., Seite 108-110 (DE-627)NLEJ188992812 (DE-600)1459188-1 1432-1203 nnns volume:104 year:1999 month:01 pages:108-110 extent:3 http://dx.doi.org/10.1007/s004390050919 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 104 1999 1 108-110 3 |
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exclusion of the sonic hedgehog gene as responsible for currarino syndrome and anorectal malformations with sacral hypodevelopment |
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Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment |
| abstract |
Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. |
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Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. |
| abstract_unstemmed |
Abstract Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders. |
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Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment |
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Seri, M. Martucciello, Giuseppe Paleari, L. Bolino, Alessandra Priolo, Manuela Salemi, Giuseppe Forabosco, Paola Caroli, Francesco Cusano, Roberto Tocco, Tatiana Lerone, Margherita Cama, Armando Torre, Michele Guys, Jean Michel Romeo, Giovanni Jasonni, Vincenzo |
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