Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto, +10

The American Journal of Human Genetics

Allelic VariantGeneticsEvolutionary BiologyCommon Chromosome Rearrangements

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai‐Man Chan, +42

Nature Genetics

Extraocular MusclesCongenital FibrosisFibrosisMendelian DisorderSkeletal Muscle +7

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

Takeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, +9

Journal of Human Genetics

Bone HealthBody CompositionLow-density-lipoprotein-receptor-related Protein 5PhysiologyBone Mineral Density +9

Postnatal overgrowth by 15q‐trisomy and intrauterine growth retardation by 15q‐monosomy due to familial translocation t(13;15): Dosage effect of <i>IGF1R</i>?

Toshiro Nagai, Osamu Shimokawa, Naoki Harada, +9

American Journal of Medical Genetics

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

Hirobumi Sugawara, Naoki Harada, Tomoko Ida, +7

Genomics

ChromatinComplex Low-copy RepeatsCommon Polymorphic InversionGeneticsHuman Polymorphism +9

Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome

Yuki Kondoh, Takaya Toma, Hirofumi Ohashi, +6

American Journal of Medical Genetics Part A

Novel tumorigenic rearrangement, Δrfp/ret, in a papillary thyroid carcinoma from externally irradiated patient

Vladimir Saenko, Tatiana Rogounovitch, Yuki Shimizu‐Yoshida, +9

Mutation research. Fundamental and molecular mechanisms of mutagenesis

Thyroid DiseaseNovel Tumorigenic RearrangementThyroid HormonePapillary Thyroid CarcinomaRadiation Oncology +2

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Elizabeth C. Engle, Nathalie McIntosh, Koki Yamada, +14

BMC Genetics

Genomic Structure, Chromosomal Mapping, and Expression Pattern of HumanDCAMKL1(KIAA0369), a Homologue ofDCX(XLIS)

Naomichi Matsumoto, Daniela T. Pilz, David H. Ledbetter

Genomics

Systems BiologyChromosomal MappingGeneticsGenomic MechanismGene Structure +4

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

Kazuki Komatsu, N. Nakamura, Mohsen Ghadami, +5

Journal of Human Genetics

Developmental BiologyGenetic DisorderJapanese FamilyGeneticsGenetic Epidemiology +11