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Kabuki-Syndrom (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kabuki-Syndrom" in German language version.

refsWebsite
Global rank German rank
11doi.org
2nd place
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11nih.gov
4th place
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10zdb-katalog.de
123rd place
6th place
2orpha.net
3,537th place
429th place
1rarediseases.org
5,181st place
low place
1web.archive.org
1st place
1st place
1clinicaltrials.gov
5,225th place
2,461st place

clinicaltrials.gov

  • University Hospital, Montpellier: Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders (Epi.KAB). https://clinicaltrials.gov Identifier NCT03855631

doi.org

  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • H. E. Hughes, S. J. Davies: Coarctation of the aorta in Kabuki syndrome. In: Archives of Disease in Childhood. Band 70, Nr. 6, 1994, ISSN 1468-2044, S. 512–514, doi:10.1136/adc.70.6.512, PMID 8048822, PMC 1029872 (freier Volltext).
  • L. W. Burke, M. C. Jones: Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. In: The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association. Band 32, Nr. 1, 1995, ISSN 1055-6656, S. 77–84, doi:10.1597/1545-1569_1995_032_0077_ksurpi_2.3.co_2, PMID 7727492.
  • N. Bögershausen, B. Wollnik: Unmasking Kabuki Syndrome. in: Clinical Genetics Band 83, 2013, S. 201–211. doi:10.1111/cge.12051
  • N. Niikawa et al.: Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. In: American Journal of Medical Genetics. Band 31, Nr. 3, 1988, ISSN 0148-7299, S. 565–589, doi:10.1002/ajmg.1320310312, PMID 3067577.
  • Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Sun Song, Jea Woo Moon, Bo Kyoung Yang, Il Soo Ha, Eun Jung Bae, Hyun-Seok Jin, Seon-Yong Jeong: Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. In: Journal of Human Genetics. Band 59, Nr. 6, 2014, ISSN 1435-232X, S. 321–325, doi:10.1038/jhg.2014.25, PMID 24739679.
  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • Damien Lederer et al.: Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome. In: The American Journal of Human Genetics. Band 90, Nr. 1, 2012, ISSN 0002-9297, S. 119–124, doi:10.1016/j.ajhg.2011.11.021, PMID 22197486.
  • Margaret P Adam et al.: Kabuki syndrome: international consensus diagnostic criteria. Journal of Medical Genetics. February 2019;56(2) 89-95 0:1-7. DOI:10.1136/jmedgenet-2018-105625
  • N. Niikawa et al.: Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 565–569, doi:10.1016/s0022-3476(81)80255-7, PMID 7277096.
  • Y. Kuroki et al.: A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 570–573, doi:10.1016/s0022-3476(81)80256-9, PMID 7277097.

nih.gov

ncbi.nlm.nih.gov

  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • H. E. Hughes, S. J. Davies: Coarctation of the aorta in Kabuki syndrome. In: Archives of Disease in Childhood. Band 70, Nr. 6, 1994, ISSN 1468-2044, S. 512–514, doi:10.1136/adc.70.6.512, PMID 8048822, PMC 1029872 (freier Volltext).
  • L. W. Burke, M. C. Jones: Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. In: The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association. Band 32, Nr. 1, 1995, ISSN 1055-6656, S. 77–84, doi:10.1597/1545-1569_1995_032_0077_ksurpi_2.3.co_2, PMID 7727492.
  • N. Niikawa et al.: Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. In: American Journal of Medical Genetics. Band 31, Nr. 3, 1988, ISSN 0148-7299, S. 565–589, doi:10.1002/ajmg.1320310312, PMID 3067577.
  • Marja W. Wessels, Alice S. Brooks, Jeannette Hoogeboom, Martinus F. Niermeijer, Patrick J. Willems: Kabuki syndrome: a review study of three hundred patients. In: Clinical Dysmorphology. Band 11, Nr. 2, 2002, ISSN 0962-8827, S. 95–102, PMID 12002156.
  • Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Sun Song, Jea Woo Moon, Bo Kyoung Yang, Il Soo Ha, Eun Jung Bae, Hyun-Seok Jin, Seon-Yong Jeong: Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. In: Journal of Human Genetics. Band 59, Nr. 6, 2014, ISSN 1435-232X, S. 321–325, doi:10.1038/jhg.2014.25, PMID 24739679.
  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • Damien Lederer et al.: Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome. In: The American Journal of Human Genetics. Band 90, Nr. 1, 2012, ISSN 0002-9297, S. 119–124, doi:10.1016/j.ajhg.2011.11.021, PMID 22197486.
  • Margaret P Adam, L Hudnins, M Hannibal: Kabuki-Syndrom Gene Reviews [Internet] PMID 21882399
  • N. Niikawa et al.: Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 565–569, doi:10.1016/s0022-3476(81)80255-7, PMID 7277096.
  • Y. Kuroki et al.: A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 570–573, doi:10.1016/s0022-3476(81)80256-9, PMID 7277097.

orpha.net

rarediseases.org

  • Margaret P Adam: National Organization for Rare Disorders: Kabuki Syndrome.

web.archive.org

zdb-katalog.de

  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • H. E. Hughes, S. J. Davies: Coarctation of the aorta in Kabuki syndrome. In: Archives of Disease in Childhood. Band 70, Nr. 6, 1994, ISSN 1468-2044, S. 512–514, doi:10.1136/adc.70.6.512, PMID 8048822, PMC 1029872 (freier Volltext).
  • L. W. Burke, M. C. Jones: Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. In: The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association. Band 32, Nr. 1, 1995, ISSN 1055-6656, S. 77–84, doi:10.1597/1545-1569_1995_032_0077_ksurpi_2.3.co_2, PMID 7727492.
  • N. Niikawa et al.: Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. In: American Journal of Medical Genetics. Band 31, Nr. 3, 1988, ISSN 0148-7299, S. 565–589, doi:10.1002/ajmg.1320310312, PMID 3067577.
  • Marja W. Wessels, Alice S. Brooks, Jeannette Hoogeboom, Martinus F. Niermeijer, Patrick J. Willems: Kabuki syndrome: a review study of three hundred patients. In: Clinical Dysmorphology. Band 11, Nr. 2, 2002, ISSN 0962-8827, S. 95–102, PMID 12002156.
  • Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Sun Song, Jea Woo Moon, Bo Kyoung Yang, Il Soo Ha, Eun Jung Bae, Hyun-Seok Jin, Seon-Yong Jeong: Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. In: Journal of Human Genetics. Band 59, Nr. 6, 2014, ISSN 1435-232X, S. 321–325, doi:10.1038/jhg.2014.25, PMID 24739679.
  • Sarah B. Ng et al.: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. In: Nature genetics. Band 42, Nr. 9, 2010, ISSN 1061-4036, S. 790–793, doi:10.1038/ng.646, PMID 20711175, PMC 2930028 (freier Volltext).
  • Damien Lederer et al.: Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome. In: The American Journal of Human Genetics. Band 90, Nr. 1, 2012, ISSN 0002-9297, S. 119–124, doi:10.1016/j.ajhg.2011.11.021, PMID 22197486.
  • N. Niikawa et al.: Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 565–569, doi:10.1016/s0022-3476(81)80255-7, PMID 7277096.
  • Y. Kuroki et al.: A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. In: The Journal of Pediatrics. Band 99, Nr. 4, 1981, ISSN 0022-3476, S. 570–573, doi:10.1016/s0022-3476(81)80256-9, PMID 7277097.