Literature DB >> 15214010

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Noriko Miyake1, Naoki Harada, Osamu Shimokawa, Hirofumi Ohashi, Kenji Kurosawa, Tadashi Matsumoto, Yoshimitsu Fukushima, Toshiro Nagai, Vorasuk Shotelersuk, Ko-Ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto.   

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Year:  2004        PMID： 15214010     DOI： 10.1002/ajmg.a.30137

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors:  Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal:  BMJ Case Rep       Date:  2009-06-30

Review 2.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

3.  Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

Authors:  Imtiaz A Chaudhry; Farrukh A Shamsi; Hisham S Alkuraya; Abdulrahman Al-Sharif
Journal:  Int Ophthalmol       Date:  2007-08-16       Impact factor: 2.031

4.  The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors:  Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal:  J Med Genet       Date:  2007-06-23       Impact factor: 6.318

5.  Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.

Authors:  Jeevan M Kumar; Kalpana Gowrishankar; T Vasanthi; R Ashok Kumar; T Jayasudha
Journal:  Indian J Hum Genet       Date:  2011-09

6.  BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.

Authors:  Kendra W Kimberley; Colleen A Morris; Holly H Hobart
Journal:  BMC Med Genet       Date:  2006-05-18       Impact factor: 2.103

7.  Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Authors:  Ivon Cuscó; Miguel del Campo; Mireia Vilardell; Eva González; Blanca Gener; Enrique Galán; Laura Toledo; Luis A Pérez-Jurado
Journal:  BMC Med Genet       Date:  2008-04-11       Impact factor: 2.103
  7 in total

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