原著論文1
Suzuki J, Azuma N, Dateki S et al.
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
J Hum Genet
(2014)
原著論文2
Shihara D, Miyado M, Nakabayashi K et al.
Aromatase excess syndrome in a family with upstream deletion of CYP19A1
Clin Endocrinol
(2014)
原著論文3
Izumi Y, Suzuki E, Kanzaki S et al.
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Fertil Steril
(2014)
原著論文4
Nakashima S, Ohishi A, Takada F et al.
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
J Hum Genet
(2014)
原著論文5
Izumi Y, Musha I, Suzuki E, et al.
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation.
endocrine
(2015)
原著論文6
Nagata E, Kano H, Kato F, et al.
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Orphanet J Rare Dis
(2014)
原著論文7
Yagi H, Takagi M, Kon M, et al.
Fertility preservation in a family with a novel NR5A1 mutation.
Endocr J
(2015)
原著論文8
Saito K, Miyado M, Kobori Y,et al.
Copy-Number Variations in Y Chromosomal Azoospermia Factor Regions Identified by Multiplex Ligation-Dependent Probe Amplification.
J Hum Genet
(2014)
原著論文9
Kon M, Suzuki E, Dung VC, et al.
Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients.
Hum Reprod
(2015)
原著論文10
Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, et al.
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis.
Sex Dev
(2015)
原著論文11
Igarashi M, Wada Y, Kojima Y, et al.
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
Sex Dev
(2015)
原著論文12
Igarashi M, Mikami H, Katsumi M, et al.
SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.
Sex Dev
(2015)
原著論文13
Katsumi M, Ishikawa H, Tanaka Y,et al.
Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia.
Cytogenetic Genome Research
(2015)
