Goldberg–Shprintzen syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Goldberg–Shprintzen syndrome" in English language version.

refsWebsite

Global rank English rank

15nih.gov

4^th place

9doi.org

2^nd place

9worldcat.org

5^th place

3semanticscholar.org

11^th place

8^th place

1oup.com

485^th place

440^th place

1orpha.net

3,537^th place

7,177^th place

doi.org

Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine; Rustin, Pierre; Gaillard, Dominique; Goossens, Michel; Giurgea, Irina (15 June 2013). "KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. PMID 23427148 – via hmg.oxfordjournals.org.
Yadav, Sankalp; Rawal, Gautam (2016). "Shprintzen-Goldberg syndrome: a rare disorder". The Pan African Medical Journal. 23: 227. doi:10.11604/pamj.2016.23.227.7482. ISSN 1937-8688. PMC 5052323. PMID 27761171.
Hurst, J. A.; Markiewicz, M.; Kumar, D.; Brett, E. M. (July 1988). "Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration". Journal of Medical Genetics. 25 (7): 494–497. doi:10.1136/jmg.25.7.494. ISSN 0022-2593. PMC 1050528. PMID 3172144.
Yomo, A.; Taira, T.; Kondo, I. (1991-11-01). "Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs". American Journal of Medical Genetics. 41 (2): 188–191. doi:10.1002/ajmg.1320410211. ISSN 0148-7299. PMID 1785632.
Silengo, Margherita; Ferrero, Giovanni Battista; Tornetta, Lorella; Cortese, Maria Grazia; Canavese, Ferdinando; D'Alonzo, Gabriella; Papalia, Francesco (2003-05-01). "Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome". American Journal of Medical Genetics. Part A. 118A (4): 388–390. doi:10.1002/ajmg.a.20013. ISSN 1552-4825. PMID 12687674. S2CID 33781082.
Brooks, Alice S.; Bertoli-Avella, Aida M.; Burzynski, Grzegorz M.; Breedveld, Guido J.; Osinga, Jan; Boven, Ludolf G.; Hurst, Jane A.; Mancini, Grazia M. S.; Lequin, Maarten H.; de Coo, Rene F.; Matera, Ivana (July 2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". American Journal of Human Genetics. 77 (1): 120–126. doi:10.1086/431244. ISSN 0002-9297. PMC 1226183. PMID 15883926.
Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; Kenny, Simon E.; Ellis, Ian H. (July 2006). "Two brothers with Goldberg-Shprintzen syndrome". Clinical Dysmorphology. 15 (3): 165–169. doi:10.1097/01.mcd.0000204991.84861.c9. ISSN 0962-8827. PMID 16760737. S2CID 32922902.
Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine (2013-06-15). "KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. ISSN 1460-2083. PMID 23427148.
Valence, Stéphanie; Poirier, Karine; Lebrun, Nicolas; Saillour, Yoann; Sonigo, Pascale; Bessières, Bettina; Attié-Bitach, Tania; Benachi, Alexandra; Masson, Cécile; Encha-Razavi, Ferechté; Chelly, Jamel (November 2013). "Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria". Neurogenetics. 14 (3–4): 215–224. doi:10.1007/s10048-013-0373-x. ISSN 1364-6753. PMID 24072599. S2CID 1045885.

nih.gov

pubmed.ncbi.nlm.nih.gov

Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine; Rustin, Pierre; Gaillard, Dominique; Goossens, Michel; Giurgea, Irina (15 June 2013). "KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. PMID 23427148 – via hmg.oxfordjournals.org.
Yadav, Sankalp; Rawal, Gautam (2016). "Shprintzen-Goldberg syndrome: a rare disorder". The Pan African Medical Journal. 23: 227. doi:10.11604/pamj.2016.23.227.7482. ISSN 1937-8688. PMC 5052323. PMID 27761171.
Hurst, J. A.; Markiewicz, M.; Kumar, D.; Brett, E. M. (July 1988). "Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration". Journal of Medical Genetics. 25 (7): 494–497. doi:10.1136/jmg.25.7.494. ISSN 0022-2593. PMC 1050528. PMID 3172144.
Yomo, A.; Taira, T.; Kondo, I. (1991-11-01). "Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs". American Journal of Medical Genetics. 41 (2): 188–191. doi:10.1002/ajmg.1320410211. ISSN 0148-7299. PMID 1785632.
Silengo, Margherita; Ferrero, Giovanni Battista; Tornetta, Lorella; Cortese, Maria Grazia; Canavese, Ferdinando; D'Alonzo, Gabriella; Papalia, Francesco (2003-05-01). "Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome". American Journal of Medical Genetics. Part A. 118A (4): 388–390. doi:10.1002/ajmg.a.20013. ISSN 1552-4825. PMID 12687674. S2CID 33781082.
Brooks, Alice S.; Bertoli-Avella, Aida M.; Burzynski, Grzegorz M.; Breedveld, Guido J.; Osinga, Jan; Boven, Ludolf G.; Hurst, Jane A.; Mancini, Grazia M. S.; Lequin, Maarten H.; de Coo, Rene F.; Matera, Ivana (July 2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". American Journal of Human Genetics. 77 (1): 120–126. doi:10.1086/431244. ISSN 0002-9297. PMC 1226183. PMID 15883926.
Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; Kenny, Simon E.; Ellis, Ian H. (July 2006). "Two brothers with Goldberg-Shprintzen syndrome". Clinical Dysmorphology. 15 (3): 165–169. doi:10.1097/01.mcd.0000204991.84861.c9. ISSN 0962-8827. PMID 16760737. S2CID 32922902.
Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine (2013-06-15). "KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. ISSN 1460-2083. PMID 23427148.
Goldberg, R. B.; Shprintzen, R. J. (1981). "Hirschsprung megacolon and cleft palate in two sibs". Journal of Craniofacial Genetics and Developmental Biology. 1 (2): 185–189. ISSN 0270-4145. PMID 7338549.
Valence, Stéphanie; Poirier, Karine; Lebrun, Nicolas; Saillour, Yoann; Sonigo, Pascale; Bessières, Bettina; Attié-Bitach, Tania; Benachi, Alexandra; Masson, Cécile; Encha-Razavi, Ferechté; Chelly, Jamel (November 2013). "Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria". Neurogenetics. 14 (3–4): 215–224. doi:10.1007/s10048-013-0373-x. ISSN 1364-6753. PMID 24072599. S2CID 1045885.

ncbi.nlm.nih.gov

Yadav, Sankalp; Rawal, Gautam (2016). "Shprintzen-Goldberg syndrome: a rare disorder". The Pan African Medical Journal. 23: 227. doi:10.11604/pamj.2016.23.227.7482. ISSN 1937-8688. PMC 5052323. PMID 27761171.
Hurst, J. A.; Markiewicz, M.; Kumar, D.; Brett, E. M. (July 1988). "Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration". Journal of Medical Genetics. 25 (7): 494–497. doi:10.1136/jmg.25.7.494. ISSN 0022-2593. PMC 1050528. PMID 3172144.
Brooks, Alice S.; Bertoli-Avella, Aida M.; Burzynski, Grzegorz M.; Breedveld, Guido J.; Osinga, Jan; Boven, Ludolf G.; Hurst, Jane A.; Mancini, Grazia M. S.; Lequin, Maarten H.; de Coo, Rene F.; Matera, Ivana (July 2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". American Journal of Human Genetics. 77 (1): 120–126. doi:10.1086/431244. ISSN 0002-9297. PMC 1226183. PMID 15883926.
"C1321551 - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-03-23.

rarediseases.info.nih.gov

"Goldberg-Shprintzen megacolon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 July 2019.

orpha.net

RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Goldberg Shprintzen megacolon syndrome". www.orpha.net. Retrieved 2022-03-23.{{cite web}}: CS1 maint: numeric names: authors list (link)

oup.com

academic.oup.com

Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine; Rustin, Pierre; Gaillard, Dominique; Goossens, Michel; Giurgea, Irina (15 June 2013). "KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. PMID 23427148 – via hmg.oxfordjournals.org.

semanticscholar.org

api.semanticscholar.org

Silengo, Margherita; Ferrero, Giovanni Battista; Tornetta, Lorella; Cortese, Maria Grazia; Canavese, Ferdinando; D'Alonzo, Gabriella; Papalia, Francesco (2003-05-01). "Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome". American Journal of Medical Genetics. Part A. 118A (4): 388–390. doi:10.1002/ajmg.a.20013. ISSN 1552-4825. PMID 12687674. S2CID 33781082.
Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; Kenny, Simon E.; Ellis, Ian H. (July 2006). "Two brothers with Goldberg-Shprintzen syndrome". Clinical Dysmorphology. 15 (3): 165–169. doi:10.1097/01.mcd.0000204991.84861.c9. ISSN 0962-8827. PMID 16760737. S2CID 32922902.
Valence, Stéphanie; Poirier, Karine; Lebrun, Nicolas; Saillour, Yoann; Sonigo, Pascale; Bessières, Bettina; Attié-Bitach, Tania; Benachi, Alexandra; Masson, Cécile; Encha-Razavi, Ferechté; Chelly, Jamel (November 2013). "Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria". Neurogenetics. 14 (3–4): 215–224. doi:10.1007/s10048-013-0373-x. ISSN 1364-6753. PMID 24072599. S2CID 1045885.

worldcat.org

search.worldcat.org

Yadav, Sankalp; Rawal, Gautam (2016). "Shprintzen-Goldberg syndrome: a rare disorder". The Pan African Medical Journal. 23: 227. doi:10.11604/pamj.2016.23.227.7482. ISSN 1937-8688. PMC 5052323. PMID 27761171.
Hurst, J. A.; Markiewicz, M.; Kumar, D.; Brett, E. M. (July 1988). "Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration". Journal of Medical Genetics. 25 (7): 494–497. doi:10.1136/jmg.25.7.494. ISSN 0022-2593. PMC 1050528. PMID 3172144.
Yomo, A.; Taira, T.; Kondo, I. (1991-11-01). "Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs". American Journal of Medical Genetics. 41 (2): 188–191. doi:10.1002/ajmg.1320410211. ISSN 0148-7299. PMID 1785632.
Silengo, Margherita; Ferrero, Giovanni Battista; Tornetta, Lorella; Cortese, Maria Grazia; Canavese, Ferdinando; D'Alonzo, Gabriella; Papalia, Francesco (2003-05-01). "Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome". American Journal of Medical Genetics. Part A. 118A (4): 388–390. doi:10.1002/ajmg.a.20013. ISSN 1552-4825. PMID 12687674. S2CID 33781082.
Brooks, Alice S.; Bertoli-Avella, Aida M.; Burzynski, Grzegorz M.; Breedveld, Guido J.; Osinga, Jan; Boven, Ludolf G.; Hurst, Jane A.; Mancini, Grazia M. S.; Lequin, Maarten H.; de Coo, Rene F.; Matera, Ivana (July 2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". American Journal of Human Genetics. 77 (1): 120–126. doi:10.1086/431244. ISSN 0002-9297. PMC 1226183. PMID 15883926.
Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; Kenny, Simon E.; Ellis, Ian H. (July 2006). "Two brothers with Goldberg-Shprintzen syndrome". Clinical Dysmorphology. 15 (3): 165–169. doi:10.1097/01.mcd.0000204991.84861.c9. ISSN 0962-8827. PMID 16760737. S2CID 32922902.
Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine (2013-06-15). "KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083. ISSN 1460-2083. PMID 23427148.
Goldberg, R. B.; Shprintzen, R. J. (1981). "Hirschsprung megacolon and cleft palate in two sibs". Journal of Craniofacial Genetics and Developmental Biology. 1 (2): 185–189. ISSN 0270-4145. PMID 7338549.
Valence, Stéphanie; Poirier, Karine; Lebrun, Nicolas; Saillour, Yoann; Sonigo, Pascale; Bessières, Bettina; Attié-Bitach, Tania; Benachi, Alexandra; Masson, Cécile; Encha-Razavi, Ferechté; Chelly, Jamel (November 2013). "Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria". Neurogenetics. 14 (3–4): 215–224. doi:10.1007/s10048-013-0373-x. ISSN 1364-6753. PMID 24072599. S2CID 1045885.