Search the collection

173 results for Fukami,+Maki

Sort by:

Sort by

Limit results to:

20 per page

173 results for Fukami,+Maki

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Mosaic loss of the Y chromosome and men's health
Author / Creator:Fukami, Maki ; Miyado, Mami
Publisher:Japan: John Wiley & Sons, Inc
Journal title:Reproductive medicine and biology, 2022-01, Vol.21 (1), p.e12445-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development
Author / Creator:Hattori, Atsushi ; Fukami, Maki
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2023-04, Vol.13 (4), p.691
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Precocious Puberty in Boys with NR0B1 Variants
Author / Creator:Hattori, Atsushi ; Fukami, Maki
Publisher:Basel: MDPI AG
Journal title:Endocrines, 2024-12, Vol.5 (4), p.529-537
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification
Author / Creator:Ogiwara, Yasuko ; Miyado, Mami ; Suzuki, Erina ; Niida, Sumpei ; Ozaki, Kouichi ; Fukami, Maki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-12, Vol.66 (12), p.1181-1184
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
Author / Creator:Kagami, Masayo ; Nagasaki, Keisuke ; Kosaki, Rika ; Horikawa, Reiko ; Naiki, Yasuhiro ; Saitoh, Shinji ; Tajima, Toshihiro ; Yorifuji, Tohru ; Numakura, Chikahiko ; Mizuno, Seiji ; Nakamura, Akie ; Matsubara, Keiko ; Fukami, Maki ; Ogata, Tsutomu
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
MAMLD1 and Differences/Disorders of Sex Development: An Update
Author / Creator:Miyado, Mami ; Fukami, Maki ; Ogata, Tsutomu
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Sexual development, 2022-11, Vol.16 (2-3), p.126-137
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism
Author / Creator:Akiba, Kazuhisa ; Hasegawa, Yukihiro ; Katoh-Fukui, Yuko ; Terao, Miho ; Takada, Shuji ; Hasegawa, Tomonobu ; Fukami, Maki ; Narumi, Satoshi
Publisher:US: Oxford University Press
Journal title:Endocrinology (Philadelphia), 2022-12, Vol.164 (2)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Genetic variants of G‐protein coupled receptors associated with pubertal disorders
Author / Creator:Suzuki, Erina ; Miyado, Mami ; Kuroki, Yoko ; Fukami, Maki
Publisher:Japan: John Wiley & Sons, Inc
Journal title:Reproductive medicine and biology, 2023-01, Vol.22 (1), p.e12515-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
Author / Creator:Hiraide, Takuya ; Masunaga, Yohei ; Honda, Akira ; Kato, Fumiko ; Fukuda, Tokiko ; Fukami, Maki ; Nakashima, Mitsuko ; Saitsu, Hirotomo ; Ogata, Tsutomu
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-05, Vol.67 (5), p.303-306
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
Author / Creator:Fuke, Tomoko ; Nakamura, Akie ; Inoue, Takanobu ; Kawashima, Sayaka ; Hara, Kaori Isono ; Matsubara, Keiko ; Sano, Shinichiro ; Yamazawa, Kazuki ; Fukami, Maki ; Ogata, Tsutomu ; Kagami, Masayo
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.802-813
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias
Author / Creator:Masunaga, Yohei ; Fujisawa, Yasuko ; Massart, Francesco ; Spinelli, Claudio ; Kojima, Yoshiyuki ; Mizuno, Kentaro ; Hayashi, Yutaro ; Sasagawa, Isoji ; Yoshida, Rie ; Kato, Fumiko ; Fukami, Maki ; Kamatani, Naoyuki ; Saitsu, Hirotomo ; Ogata, Tsutomu
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2023-10, Vol.108 (10), p.2550-2560
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Author / Creator:Hara-Isono, Kaori ; Matsubara, Keiko ; Hamada, Riku ; Shimada, Shun ; Yamaguchi, Tomomi ; Wakui, Keiko ; Miyazaki, Osamu ; Muroya, Koji ; Kurosawa, Kenji ; Fukami, Maki ; Ogata, Tsutomu ; Kosho, Tomoki ; Kagami, Masayo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-11, Vol.66 (11), p.1121-1126
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Author / Creator:Kawashima, Sayaka ; Nakamura, Akie ; Inoue, Takanobu ; Matsubara, Keiko ; Horikawa, Reiko ; Wakui, Keiko ; Takano, Kyoko ; Fukushima, Yoshimitsu ; Tatematsu, Toshi ; Mizuno, Seiji ; Tsubaki, Junko ; Kure, Shigeo ; Matsubara, Yoichi ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, Masayo
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients
Author / Creator:Torii, Kaoruko ; Nishina, Sachiko ; Morikawa, Hazuki ; Mizobuchi, Kei ; Takayama, Masakazu ; Tachibana, Nobutaka ; Kurata, Kentaro ; Hikoya, Akiko ; Sato, Miho ; Nakano, Tadashi ; Fukami, Maki ; Azuma, Noriyuki ; Hayashi, Takaaki ; Saitsu, Hirotomo ; Hotta, Yoshihiro
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (18), p.13678
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
Author / Creator:Masunaga, Yohei ; Nishimura, Gen ; Takahashi, Koji ; Hishiyama, Tomiyuki ; Imamura, Masatoshi ; Kashimada, Kenichi ; Kadoya, Machiko ; Wada, Yoshinao ; Okamoto, Nobuhiko ; Oba, Daiju ; Ohashi, Hirofumi ; Ikeno, Mitsuru ; Sakamoto, Yuko ; Fukami, Maki ; Saitsu, Hirotomo ; Ogata, Tsutomu
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-10, Vol.12 (1), p.17079-17079, Article 17079
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
Author / Creator:Kagami, Masayo ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Nakamura, Akie ; Sano, Shinichiro ; Okamura, Kohji ; Hata, Kenichiro ; Fukami, Maki ; Ogata, Tsutomu
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-04, Vol.19 (4), p.476-482
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-04, Vol.14 (1), p.8069-8069, Article 8069
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
Author / Creator:Nishina, Sachiko ; Hosono, Katsuhiro ; Ishitani, Shizuka ; Kosaki, Kenjiro ; Yokoi, Tadashi ; Yoshida, Tomoyo ; Tomita, Kaoru ; Fukami, Maki ; Saitsu, Hirotomo ; Ogata, Tsutomu ; Ishitani, Tohru ; Hotta, Yoshihiro ; Azuma, Noriyuki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1021-1027
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
Author / Creator:Omark, Jessica ; Masunaga, Yohei ; Hannibal, Mark ; Shaw, Brandon ; Fukami, Maki ; Kato, Fumiko ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, Tsutomu
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-04, Vol.66 (4), p.439-443
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism
Author / Creator:Haque, Muhammad Nazmul ; Ohtsubo, Masafumi ; Nishina, Sachiko ; Nakao, Shiro ; Yoshida, Kazue ; Hosono, Katsuhiro ; Kurata, Kentaro ; Ohishi, Kentaro ; Fukami, Maki ; Sato, Miho ; Hotta, Yoshihiro ; Azuma, Noriyuki ; Minoshima, Shinsei
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-02, Vol.66 (2), p.205-214
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 173 results

Export record to excel

Export this record

Export record to excel

Mosaic loss of the Y chromosome and men's health

Export this record

Export record to excel

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Export this record

Export record to excel

Precocious Puberty in Boys with NR0B1 Variants

Export this record

Export record to excel

Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification

Export this record

Export record to excel

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Export this record

Export record to excel

MAMLD1 and Differences/Disorders of Sex Development: An Update

Export this record

Export record to excel

POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism

Export this record

Export record to excel

Genetic variants of G‐protein coupled receptors associated with pubertal disorders

Export this record

Export record to excel

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Export this record

Export record to excel

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

Export this record

Export record to excel

Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias

Export this record

Export record to excel

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

Export this record

Export record to excel

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Export this record

Export record to excel

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients

Export this record

Export record to excel

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Export this record

Export record to excel

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Export this record

Export record to excel

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

Export this record

Export record to excel

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

Export this record

Export record to excel

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Export this record

Export record to excel

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

Refine your search