Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders

by Maki Fukami, Mami Miyado
Published 2017-06-01

Losing maleness: Somatic Y chromosome loss at every stage of a man's life

by Mami Miyado, Maki Fukami
Published 2019-06-01

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

by Maki Fukami, Makio Shozu, Tsutomu Ogata
Published 2012-01-01

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

by Keiko Matsubara, Kaede Yanagida, Toshiro Nagai, Masayo Kagami, Maki Fukami
Published 2020-02-01

Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen‐thawed embryo transfer

by Kazuki Saito, Maki Fukami, Mami Miyado, Ichiro Ono, Keijiro Sumori
Published 2018-01-01

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.

by Michiko Nakamura, Maki Fukami, Fumihiro Sugawa, Mami Miyado, Katsuya Nonomura, Tsutomu Ogata
Published 2011-04-01

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

by Satoshi Tamaoka, Erina Suzuki, Atsushi Hattori, Tsutomu Ogata, Maki Fukami, Yuko Katoh-Fukui
Published 2021-02-01

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

by Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga
Published 2019-06-01

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

by Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Published 2020-06-01

Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility

by Mami Miyado, Kaoru Yoshida, Kenji Miyado, Momori Katsumi, Kazuki Saito, Shigeru Nakamura, Tsutomu Ogata, Maki Fukami
Published 2017-06-01

Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

by Erina Suzuki, Yoshitomo Kobori, Momori Katsumi, Kikumi Ushijima, Toru Uchiyama, Hiroshi Okada, Mami Miyado, Maki Fukami
Published 2020-04-01

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly

by Maki Igarashi, Kentaro Mizuno, Masafumi Kon, Satoshi Narumi, Yoshiyuki Kojima, Yutaro Hayashi, Tsutomu Ogata, Maki Fukami
Published 2018-01-01

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

by Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Published 2018-02-01

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

by Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami, Tsutomu Ogata
Published 2019-03-01

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells

by Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa, Maki Fukami
Published 2019-05-01

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

by Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan
Published 2012-01-01

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdelet...

by Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Published 2019-02-01

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

by Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
Published 2014-01-01

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

by Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami
Published 2013-01-01

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.

by Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi
Published 2018-01-01