Literature DB >> 11158175

DEFECT 11 syndrome associated with agenesis of the corpus callosum.

T Yamamoto, S Akaboshi, H Ninomiya, E Nanba.   

Abstract

Mesh：

Year:  2001        PMID： 11158175      PMCID： PMC1734817          DOI： 10.1136/jmg.38.2.e5

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Authors:  Hyung-Goo Kim; Hyun-Taek Kim; Natalia T Leach; Fei Lan; Reinhard Ullmann; Asli Silahtaroglu; Ingo Kurth; Anja Nowka; Ihn Sik Seong; Yiping Shen; Michael E Talkowski; Douglas Ruderfer; Ji-Hyun Lee; Caron Glotzbach; Kyungsoo Ha; Susanne Kjaergaard; Alex V Levin; Bernd F Romeike; Tjitske Kleefstra; Oliver Bartsch; Sarah H Elsea; Ethylin Wang Jabs; Marcy E MacDonald; David J Harris; Bradley J Quade; Hans-Hilger Ropers; Lisa G Shaffer; Kerstin Kutsche; Lawrence C Layman; Niels Tommerup; Vera M Kalscheuer; Yang Shi; Cynthia C Morton; Cheol-Hee Kim; James F Gusella
Journal:  Am J Hum Genet       Date:  2012-07-05       Impact factor: 11.025

2.  Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Authors:  C Palka; M Alfonsi; A Mohn; P Guanciali Franchi; F Chiarelli; G Calabrese
Journal:  Mol Syndromol       Date:  2012-04-27

3.  Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Authors:  Lampros A Mavrogiannis; Indira B Taylor; Sally J Davies; Feliciano J Ramos; José L Olivares; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2006-02       Impact factor: 4.246

4.  Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.

Authors:  Bernd F M Romeike; Yiping Shen; Hiromi Koso Nishimoto; Cynthia C Morton; Lawrence C Layman; Hyung-Goo Kim
Journal:  Clin Neuropathol       Date:  2014 May-Jun       Impact factor: 1.368

Review 5.  Disease Modeling of Rare Neurological Disorders in Zebrafish.

Authors:  Myeongjoo Son; Dae Yu Kim; Cheol-Hee Kim
Journal:  Int J Mol Sci       Date:  2022-04-01       Impact factor: 5.923
  5 in total

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