日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Maternal Microchimerism Is Uncommon in Patients with Hypospadias

母体微嵌合现象在尿道下裂患者中并不常见

Muranishi, Yuki; Katoh-Fukui, Yuko; Kon, Masafumi; Koga, Nobuhiko; Tamaoka, Satoshi; Hattori, Atsushi; Shinohara, Nobuo; Abe, Takashige; Fukami, Maki

Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university students.

性激素相关基因重复序列多态性与大学生性别表型变异之间的关联

Igarashi Mizuho, Katoh-Fukui Yuko, Hattori Atsushi, Pak Kyongsun, Sasaki Shoko, Fukami Maki

DHX37 variants in patients with 46,XY disorders or differences of sex development

DHX37 变异与 46,XY 畸形或性发育差异患者相关

Katoh-Fukui, Yuko; Saito, Daisuke; Narumi, Hiroko; Hattori, Atsushi; Igarashi, Maki; Uehara, Erika; Shima, Hirohito; Kanno, Junko; Hasegawa, Yukihiro; Horikawa, Reiko; Nagasaki, Keisuke; Fukami, Maki

Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes

软骨组织和软骨细胞中生长基因SHOX的表达水平和DNA甲基化谱

Hattori, Atsushi; Seki, Atsuhito; Inaba, Naoto; Nakabayashi, Kazuhiko; Takeda, Kazue; Tatsusmi, Kuniko; Naiki, Yasuhiro; Nakamura, Akie; Ishiwata, Keisuke; Matsumoto, Kenji; Nasu, Michiyo; Okamura, Kohji; Michigami, Toshimi; Katoh-Fukui, Yuko; Umezawa, Akihiro; Ogata, Tsutomu; Kagami, Masayo; Fukami, Maki

Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia

一名患有孤立性非梗阻性无精子症的男性携带复合杂合KCTD19变异

Muranishi, Yuki; Katoh-Fukui, Yuko; Hattori, Atsushi; Kobori, Yoshitomo; Osaka, Akiyoshi; Okada, Hiroshi; Iwahata, Toshiyuki; Kon, Masafumi; Shinohara, Nobuo; Fukami, Maki

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

一名青春期前身材矮小的男孩,其IGFALS基因存在6个碱基对的纯合缺失。

Doi, Hibiki; Kageyama, Ikuko; Katoh-Fukui, Yuko; Hattori, Atsushi; Fukami, Maki; Shimura, Naoto

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features

一名男孩携带PTPN11和FLNA基因变异,表现为生殖器畸形、身材矮小和非特异性面部畸形特征。

Muranishi, Yuki; Itonaga, Tomoyo; Ihara, Kenji; Katoh-Fukui, Yuko; Tamaoka, Satoshi; Hattori, Atsushi; Kon, Masafumi; Shinohara, Nobuo; Fukami, Maki

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder

FRI307 生长激素释放激素转录激活引起的巨人症:首例由激素编码基因过表达导致的先天性疾病

Agorastos, Agorastos; Karca, Ayla; Lai, William; Naidoo, Shiva; Saladi, Lakshmi N; Jameson, Brian C; Marques, Renata; Sharma, Sapna; Flores Chang, Bessy Suyin; Sajan, Alen; Maione, Luigi; Naule, Lydie; Li, Chloe; Magnuson, Melissa; Young, Jacques; Carroll, Rona Stephanie; Kaiser, Ursula B; Ahmad, Mobeen; Iqbal, Iqra; Khan, Malik; Estepa, Adrian; Siddiqui, Usman; Garcia, Lucia Iglesias; Mercogliano, María Florencia; Schuster, Claudio; Cheung, Leonard; Camper, Sally Ann; Marti, Marcelo; Perez-Millan, Maria Ines; Cristancho, Cagney; Szabo, Gabriela; Ruggiero-Ruff, Rebecca Elizabeth; Villa, Pedro; Hijleh, Sarah Abu; Avalos, Bryant; DiPatrizio, Nicholas; Coss, Djurdjica; Munasinghe, Uthpala; Pittampalli, Shanti; Das, Dhriti; Pattan, Vishwanath; Pansare, Rahul; Khurram, Daniyeh; Folsom, Lisal; Godar, Cassandra M; Noble, Evan B; Vietor, Nicole O; Knee, Treyce S; Nicholas, Michael; Mahfuza, Ummul; De Ieva, Antonio; Rodriguez, Michael; Preda, Veronica Angela; Akhter, Wajeeha; Gilden, Janice L; Shapiro, Joshua Nathan; Lu, Tiffany Xin; Eapen, Jane; Karam, Jocelyne Georges; Alsagheir, Osamah; Alobaid, Lulu Abdulaziz; Alswailem, Meshael; Al-Hindi, Hindi; Alzahrani, Ali Saeed; Apaydin, Tugce; Zonis, Svetlana; Zhou, Cuiqi; Barrett, Robert; Chesnokova, Vera; Melmed, Shlomo; Khan, Aysha; Alpertunga, Ipek; Kantorovich, Vitaly; Blanchard, Kayla; Musurakis, Clio; Havrylyan, Andriy; Yau, Alice; Reisman, Tamar; Arnouk, Nelly; Schroeder, Pamela Rose; Elyse Moore, M; Chen, Kevin G; Park, Kyeyoon; Asuzu, David; Ramavenkat, Nikhil; Walbridge, Stuart; Mullaney, Dustin; Arhin, Martin; Maric, Dragan; Mandal, Debjani; Chittiboina, Prashant; Fernando, Ashen Kavinda; Cheema, Rashid; Menotti, Sara; Chiloiro, Sabrina; Giampietro, Antonella; Bianchi, Antonio; Angelini, Flavia; Tartaglione, Tommaso; Antonini Cappellini, Gian Carlo; De Galitiis, Federica; Rossi, Ernesto; Schinzari, Giovanni; Scoppola, Alessandro; Pontecorvi, Alfredo; De Marinis, Laura; Fleseriu, Maria; Gilis-Januszewska, Aleksandra; Bogusławska, Anna; Godlewska, Magdalena; Kluczyński, Łukasz; Rzepka, Ewelina; Hubalewska-D, Alicja; Monsour, Elio Paul; Badour, Sanaa; Munoz Pena, Juan Manuel; Donahoo, William Troy; Zhang, Sherry; Lo, Joan C; Jaffe, Marc G; Arzumanyan, Hasmik; Slack, Daniel; Levine, Alice C; Ibrahim, Eiman Y; Hulinsky, Ilja; Regelmann, David; da Silva Mansano, Naira; Frazao, Renata; Zakkar, Adam A; Al Mushref, Mazen; Fadanelli, Margaret; Bogusławska, Anna; Kluczyński, Łukasz; Hubalewska-Dydejczyk, Alicja; Gilis-Januszewska, Aleksandra; Sonbol, Mark; Novitskaya, Maria; Monye, Joseph; Jafri, Sabih; Japp, Emily; Das, Liza; Laway, Bashir; Sahoo, Jayaprakash; Bhadada, Sanjay K; Dutta, Pinaki; Chakrabarti, Jayati; Eschbacher, Jennifer; Yuen, Kevin; Little, Andrew S; Zavros, Yana; Kuwabara, Saki; Kameda, Hiraku; Nomoto, Hiroshi; Cho, Kyu Yong; Nakamura, Akinobu; Ishi, Yukitomo; Motegi, Hiroaki; Miki, Fujimura; Miyoshi, Hideaki; Atsumi, Tatsuya; Bendaram, Snigdha Reddy; Kantorovich, Vitaly; Keskinkilic, Ayse Nur; Sistla, Divya; Shah, Rutu Jatin; Patel, Janki; Belany, Paul A; Jain, Lekha; Vickers, Mark H; Jacob, Bincy; Middleditch, Martin J; Chudakova, Daria A; Ganley, Austen R D; O'Sullivan, Justin M; Perry, Jo K; Rahmatallah, Yasir; Banik, Jewel; Bronson, Katherine; MacNicol, Melanie C; Pruis, Ilanah; Verbrug, Erik; Smits, Marion; Vernooij, Meike; Feelders, Richard Abraham; Blavers, Rutger; Velthuijzen, Sophie; Neggers, Sebastian J CM M; Yu, Jeremy H; Nguyen, Michael L; Horani, Mohamad Hosam; Shahlapour, Mahmood; Suarez, Corina Nava; Prater, Janna; Blocher, Nissa; Teja Sathi, Sri Ram; Abdelrahman, Houda; Rasiah, Stephen; Braunthal, Stephanie; Mahoney, Lindsey; Carneiro, Raquel M; Chen, Kenneth K; Kang, Yu Mi; Gildenberg, Melissa S; Quade, Bradley J; Blair, Rachel A; Dillon, Martha; Shteyman, Sara; Rashid, Waleeja; Ramchandani, Bhanvi Prakash; Samat, Aashish G; Genkil, Jessica S; Ahsun, Sana; Mohan, Nandakumar; Anastasopoulou, Catherine; Carafone, Lindsay; Vates, Edward; Johnson, Mahlon; Shafiq, Ismat; Hattori, Atsushi; Katoh-Fukui, Yuko; Zhang, Ruogu; Terao, Miho; Takada, Shuji; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yamada, Yutaka; Matsuura, Nobuo; Fukami, Maki

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder

FRI307 生长激素释放激素转录激活引起的巨人症:首例由激素编码基因过表达导致的先天性疾病

Steiner, Jack E; McCoy, Garrett N; Hess, Christopher P; Dobyns, William B; Metry, Denise W; Drolet, Beth A; Maheshwari, Mohit; Siegel, Dawn H; Chowdary Davuluri, Harika; Kaur, Kamalpreet; Chaulagain, Prashant; Irina Krug, Esther; Tunç, Ali; Muradov, Ilkin; Sulu, Cem; Çapar, Mehmet Umut; Kadıoğlu, Pınar; Yu, Jeremy H; Nguyen, Michael L; Horani, Mohamad Hosam; Shahlapour, Mahmood; Hattori, Atsushi; Katoh-Fukui, Yuko; Zhang, Ruogu; Terao, Miho; Takada, Shuji; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yamada, Yutaka; Matsuura, Nobuo; Fukami, Maki

Role of Liquid-Liquid Separation in Endocrine and Living Cells

液-液分离在内分泌细胞和活细胞中的作用

Akiba, Kazuhisa; Katoh-Fukui, Yuko; Yoshida, Kei; Narumi, Satoshi; Miyado, Mami; Hasegawa, Yukihiro; Fukami, Maki