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Genes|November 25, 2023
Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based StudyLoc Nguyen Gia Pham, Teruyuki Niimi, Satoshi Suzuki, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake, Osamu Shimokawa, Naoki Harada, et al.
Nature Genetics|July 6, 2004
Heterozygous TGFBR2 mutations in Marfan syndromeTakeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, et al.
American Journal of Human Genetics|April 11, 2003
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndromeNoriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, et al.
Nature Genetics|March 16, 2002
Haploinsufficiency of NSD1 causes Sotos syndromeNaohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada, et al.
Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.
American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
Human Mutation|October 1, 2003
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki, Naoki Harada, Osamu Shimokawa, et al.
Cellular Signalling|July 28, 2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosisTadashi Kaname, Chang-Seok Ki, Norio Niikawa, et al.
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