Meckel–Gruber syndrome (English Wikipedia)

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

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doi.org

  • Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (2007). "The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Human Molecular Genetics. 16 (2): 173–186. doi:10.1093/hmg/ddl459. PMID 17185389.
  • Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (Sep 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
  • Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S (June 2015). "Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe". European Journal of Human Genetics. 23 (6): 746–752. doi:10.1038/ejhg.2014.174. ISSN 1018-4813. PMC 4795048. PMID 25182137.
  • Salonen, R.; Norio, R.; Reynolds, James F. (1984). "The Meckel syndrome: Clinicopathological Findings in 67 Patients". American Journal of Medical Genetics. 18 (4): 671–689. doi:10.1002/ajmg.1320180414. PMID 6486167.
  • Nyberg, D. A.; et al. (1990). "Meckel–Gruber syndrome; Importance of Prenatal Diagnosis". Journal of Ultrasound in Medicine. 9 (12): 691–696. doi:10.7863/jum.1990.9.12.691. PMID 2277397. S2CID 25658017.
  • Young, I. D.; Rickett, A. B.; Clarke, M. (1985-08-01). "High incidence of Meckel's syndrome in Gujarati Indians". Journal of Medical Genetics. 22 (4): 301–304. doi:10.1136/jmg.22.4.301. ISSN 0022-2593. PMC 1049454. PMID 4045959.

ktl.fi

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (2007). "The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Human Molecular Genetics. 16 (2): 173–186. doi:10.1093/hmg/ddl459. PMID 17185389.
  • Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (Sep 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
  • Kheir, Abdelmoneim E. M.; Imam, Abdelmutalab; Omer, Ilham M.; Hassan, Ibtsama M.A.; Elamin, Sara A.; Awadalla, Esra A.; Gadalla, Mohammed H.; Hamdoon, Tagwa A. (2012). "Meckel-Gruber syndrome: A rare and lethal anomaly". Sudanese Journal of Paediatrics. 12 (1): 93–96. ISSN 0256-4408. PMC 4949827. PMID 27493335.
  • Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S (June 2015). "Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe". European Journal of Human Genetics. 23 (6): 746–752. doi:10.1038/ejhg.2014.174. ISSN 1018-4813. PMC 4795048. PMID 25182137.
  • Salonen, R.; Norio, R.; Reynolds, James F. (1984). "The Meckel syndrome: Clinicopathological Findings in 67 Patients". American Journal of Medical Genetics. 18 (4): 671–689. doi:10.1002/ajmg.1320180414. PMID 6486167.
  • Nyberg, D. A.; et al. (1990). "Meckel–Gruber syndrome; Importance of Prenatal Diagnosis". Journal of Ultrasound in Medicine. 9 (12): 691–696. doi:10.7863/jum.1990.9.12.691. PMID 2277397. S2CID 25658017.
  • Young, I. D.; Rickett, A. B.; Clarke, M. (1985-08-01). "High incidence of Meckel's syndrome in Gujarati Indians". Journal of Medical Genetics. 22 (4): 301–304. doi:10.1136/jmg.22.4.301. ISSN 0022-2593. PMC 1049454. PMID 4045959.

ncbi.nlm.nih.gov

rarediseases.org

  • "Meckel Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-12-02.

semanticscholar.org

api.semanticscholar.org

web.archive.org

whonamedit.com

worldcat.org

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