Works matching IS 2054345X AND DT 2021 AND VI 8 AND IP 1

Results: 45

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00178-2

By:

Yamazawa, Kazuki;
Shimizu, Kenji;
Ohashi, Hirofumi;
Haruna, Hidenori;
Inoue, Satomi;
Murakami, Haruka;
Matsunaga, Tatsuo;
Iwata, Takeshi;
Tsunoda, Kazushige;
Fujinami, Kaoru

Publication type:

Article

dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00175-5

By:

Ogishima, Soichi;
Nagaie, Satoshi;
Mizuno, Satoshi;
Ishiwata, Ryosuke;
Iida, Keita;
Shimokawa, Kazuro;
Takai-Igarashi, Takako;
Nakamura, Naoki;
Nagase, Sachiko;
Nakamura, Tomohiro;
Tsuchiya, Naho;
Nakaya, Naoki;
Murakami, Keiko;
Ueno, Fumihiko;
Onuma, Tomomi;
Ishikuro, Mami;
Obara, Taku;
Mugikura, Shunji;
Tomita, Hiroaki;
Uruno, Akira

Publication type:

Article

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00172-8

By:

Kido, Jun;
Mitsubuchi, Hiroshi;
Watanabe, Takehisa;
Sugawara, Keishin;
Sasai, Hideo;
Fukao, Toshiyuki;
Nakamura, Kimitoshi

Publication type:

Article

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00176-4

By:

Shimojima Yamamoto, Keiko;
Yanagishita, Tomoe;
Yamamoto, Hisako;
Miyamoto, Yusaku;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Asano, Yoshihiro;
Sakata, Yasushi;
Yamamoto, Toshiyuki

Publication type:

Article

Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.

Published in:

2021

By:

Manoochehri, Jamal;
Dastgheib, Seyed Alireza;
Khamirani, Hossein Jafari;
Mollaie, Maryam;
Sharifi, Zahra;
Zoghi, Sina;
Tabei, Seyed Mohammad Bagher;
Mohammadi, Sanaz;
Dehghanian, Fatemeh;
Farbod, Zahra;
Dianatpour, Mehdi

Publication type:

Correction Notice

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00173-7

By:

Noda, Saki;
Aoyama, Kohei;
Kondo, Yuto;
Okamura, Jun;
Suzuki, Atsushi;
Yamaguchi, Naoya;
Yoshida, Aya;
Miyake, Yoshishige

Publication type:

Article

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00166-6

By:

Hori, Asuka;
Migita, Ohsuke;
Kawaguchi-Kawata, Rika;
Narumi-Kishimoto, Yoko;
Takada, Fumio;
Hata, Kenichiro

Publication type:

Article

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00171-9

By:

Alavi, Omid;
Khamirani, Hossein Jafari;
Zoghi, Sina;
Feili, Afrooz;
Dastgheib, Seyed Alireza;
Tabei, Seyed Mohammad Bagher;
Manoochehri, Jamal;
Panahandeh, Seyed Mehdi;
Kamali, Majid;
Dianatpour, Mehdi

Publication type:

Article

JCGA: the Japanese version of the Cancer Genome Atlas and its contribution to the interpretation of gene alterations detected in clinical cancer genome sequencing.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00170-w

By:

Serizawa, Masakuni;
Mizuguchi, Maki;
Urakami, Kenichi;
Nagashima, Takeshi;
Ohshima, Keiichi;
Hatakeyama, Keiichi;
Ohnami, Sumiko;
Ohnami, Shumpei;
Maruyama, Koji;
Ashizawa, Tadashi;
Iizuka, Akira;
Horiuchi, Yasue;
Naruoka, Akane;
Kenmotsu, Hirotsugu;
Akiyama, Yasuto;
Yamaguchi, Ken

Publication type:

Article

Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00169-3

By:

Freyberger, Fiona;
Kokotović, Tomislav;
Krnjak, Goran;
Frković, Sanda Huljev;
Nagy, Vanja

Publication type:

Article

Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00168-4

By:

Marszałek-Kruk, Bożena Anna;
Wójcicki, Piotr

Publication type:

Article

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00167-5

By:

Poon, Kok-Siong;
Tan, Karen Mei-Ling;
Loke, Kah Yin

Publication type:

Article

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00165-7

By:

Asakura, Yuta;
Osaka, Hitoshi;
Aoi, Hiromi;
Mizuguchi, Takeshi;
Matsumoto, Naomichi;
Yamagata, Takanori

Publication type:

Article

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00164-8

By:

Manoochehri, Jamal;
Dastgheib, Seyed Alireza;
Khamirani, Hossein Jafari;
Mollaie, Maryam;
Sharifi, Zahra;
Zoghi, Sina;
Tabei, Seyed Mohammad Bagher;
Mohammadi, Sanaz;
Dehghanian, Fatemeh;
Farbod, Zahra;
Dianatpour, Mehdi

Publication type:

Article

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00163-9

By:

Fuchs, Sigrid;
Lisfeld, Jasmin;
Kankel, Stefanie;
Person, Luisa;
Liehr, Thomas

Publication type:

Article

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00160-y

By:

Habib, Ashkan;
Shojazadeh, Alireza;
Molayemat, Mohadeseh;
Jafari Khamirani, Hossein;
Zoghi, Sina;
Dastgheib, Seyed Alireza;
Habib, Asadollah

Publication type:

Article

A novel LRP6 variant in a Japanese family with oligodontia.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00162-w

By:

Goto, Hiroki;
Kimura, Masashi;
Machida, Junichiro;
Ota, Akiko;
Nakashima, Mitsuko;
Tsuchida, Naomi;
Adachi, Junya;
Aoki, Yoshihiko;
Tatematsu, Tadashi;
Takahashi, Katsu;
Sana, Masatoshi;
Nakayama, Atsuo;
Suzuki, Shintaro;
Nagao, Toru;
Matsumoto, Naomichi;
Tokita, Yoshihito

Publication type:

Article

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00161-x

By:

Adachi, Junya;
Aoki, Yoshihiko;
Tatematsu, Tadashi;
Goto, Hiroki;
Nakayama, Atsuo;
Nishiyama, Takeshi;
Takahashi, Katsu;
Sana, Masatoshi;
Ota, Akiko;
Machida, Junichiro;
Nagao, Toru;
Tokita, Yoshihito

Publication type:

Article

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00159-5

By:

Hama, Rina;
Kido, Jun;
Sugawara, Keishin;
Nakamura, Toshiro;
Nakamura, Kimitoshi

Publication type:

Article

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00158-6

By:

Kawashima-Sonoyama, Yuki;
Okuno, Keisuke;
Dohmoto, Tomotsune;
Tanase-Nakao, Kanako;
Narumi, Satoshi;
Namba, Noriyuki

Publication type:

Article

Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00156-8

By:

Hosoe, Jun;
Suzuki, Ken;
Miya, Fuyuki;
Kato, Takashi;
Tsunoda, Tatsuhiko;
Okada, Yukinori;
Horikoshi, Momoko;
Shojima, Nobuhiro;
Yamauchi, Toshimasa;
Kadowaki, Takashi

Publication type:

Article

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00155-9

By:

Ueda, Kimiko;
Araki, Atsushi;
Fujita, Atsushi;
Matsumoto, Naomichi;
Uehara, Tomoko;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Okamoto, Nobuhiko

Publication type:

Article

A novel PTRH2 missense mutation causing IMNEPD: a case report.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00147-9

By:

Khamirani, Hossein Jafari;
Zoghi, Sina;
Dianatpour, Mehdi;
Jankhah, Aria;
Tabei, Seyed Sajjad;
Mohammadi, Sanaz;
Dastgheib, Seyed Alireza

Publication type:

Article

Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00154-w

By:

Kikuchi, Masataka;
Kobayashi, Kaori;
Nishida, Nao;
Sawai, Hiromi;
Sugiyama, Masaya;
Mizokami, Masashi;
Tokunaga, Katsushi;
Nakaya, Akihiro

Publication type:

Article

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00153-x

By:

Morikawa, Takuya;
Miura, Shiroh;
Tateishi, Takahisa;
Noda, Kazuhito;
Shibata, Hiroki

Publication type:

Article

Cerebrovascular diseases in two patients with entire NSD1 deletion.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00151-z

By:

Itai, Toshiyuki;
Miyatake, Satoko;
Hatano, Taku;
Hattori, Nobutaka;
Ohno, Atsuko;
Aoki, Yusuke;
Itomi, Kazuya;
Mori, Harushi;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00152-y

By:

Natsume, Soichiro;
Yamaguchi, Tatsuro;
Eguchi, Hidetaka;
Okazaki, Yasushi;
Horiguchi, Shin-ichiro;
Ishida, Hideyuki

Publication type:

Article

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00150-0

By:

Muto, Kohei;
Miyamoto, Ryosuke;
Terasawa, Yuka;
Shimatani, Yoshimitsu;
Hara, Keijiro;
Kakimoto, Takumi;
Fukumoto, Tatsuya;
Osaki, Yusuke;
Fujita, Koji;
Harada, Masafumi;
Uehara, Hisanori;
Takagi, Yasushi;
Izumi, Yuishin

Publication type:

Article

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Published in:

2021

By:

Kim, Jong Seop;
Jeon, Hyoungseok;
Lee, Hyeran;
Ko, Jung Min;
Kim, Yonghwan;
Choi, Murim;
Nishimura, Gen;
Kim, Ok-Hwa;
Cho, Tae-Joon

Publication type:

Case Study

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00148-8

By:

Yanagishita, Tomoe;
Eto, Kaoru;
Yamamoto-Shimojima, Keiko;
Segawa, Osamu;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Asano, Yoshihiro;
Sakata, Yasushi;
Nagata, Satoru;
Yamamoto, Toshiyuki

Publication type:

Article

Genetic variability in COVID-19-related genes in the Brazilian population.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00146-w

By:

Secolin, Rodrigo;
de Araujo, Tânia K.;
Gonsales, Marina C.;
Rocha, Cristiane S.;
Naslavsky, Michel;
Marco, Luiz De;
Bicalho, Maria A. C.;
Vazquez, Vinicius L.;
Zatz, Mayana;
Silva, Wilson A.;
Lopes-Cendes, Iscia

Publication type:

Article

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y

By:

Yamamoto-Shimojima, Keiko;
Akagawa, Hiroyuki;
Yanagi, Kumiko;
Kaname, Tadashi;
Okamoto, Nobuhiko;
Yamamoto, Toshiyuki

Publication type:

Article

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00145-x

By:

Yamamoto, Jumpei;
Yamamoto, Masaya;
Takano, Kozue;
Okazaki, Toru;
Arakawa, Reiko;
Hara, Hisao;
Okazaki, Atsuko;
Takeuchi, Fumihiko;
Hiroi, Yukio;
Kato, Norihiro

Publication type:

Article

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z

By:

Srikrupa, Natarajan N.;
Sripriya, Sarangapani;
Pavithra, Suriyanarayanan;
Sen, Parveen;
Gupta, Ravi;
Mathavan, Sinnakaruppan

Publication type:

Article

The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00141-1

By:

Ibrahim, Muntaser;
Salih, Abdalhameed

Publication type:

Article

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00142-0

By:

Wakabayashi, Kei;
Osaka, Hitoshi;
Kojima, Karin;
Imaizumi, Taichi;
Yamamoto, Toshiyuki;
Yamagata, Takanori

Publication type:

Article

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00140-2

By:

Moradian, Mike M.;
Babikyan, Davit T.;
Markarian, Sione;
Petrosyan, Jonny G.;
Avanesian, Nare;
Arutunyan, Tereza;
Sarkisian, Tamara F.

Publication type:

Article

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00133-7

By:

Nagaoka, Shinichi;
Yamaguchi-Kabata, Yumi;
Shiga, Naomi;
Tachibana, Masahito;
Yasuda, Jun;
Tadaka, Shu;
Tamiya, Gen;
Fuse, Nobuo;
Kinoshita, Kengo;
Kure, Shigeo;
Murotsuki, Jun;
Yamamoto, Masayuki;
Yaegashi, Nobuo;
Sugawara, Junichi

Publication type:

Article

Novel ARG1 variants identified in a patient with arginase 1 deficiency.

Published in:

2021

By:

Yokoi, Katsuyuki;
Nakajima, Yoko;
Yasui, Toshihiro;
Yoshino, Makoto;
Yoshikawa, Tetsushi;
Kurahashi, Hiroki;
Ito, Tetsuya

Publication type:

Case Study

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Published in:

2021

By:

Higa, Moritake;
Zaha, Akiko;
Takushi, Akiko;
Morishima, Nami;
Majikina, Toyofumi;
Touma, Takeshi;
Shimabukuro, Michio;
Masuzaki, Hiroaki;
Honda, Misa;
Hasegawa, Tomonobu

Publication type:

Case Study

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00137-x

By:

Tamaoka, Satoshi;
Suzuki, Erina;
Hattori, Atsushi;
Ogata, Tsutomu;
Fukami, Maki;
Katoh-Fukui, Yuko

Publication type:

Article

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Published in:

2021

By:

Tozawa, Takenori;
Nishimura, Akira;
Ueno, Tamaki;
Shikata, Akane;
Taura, Yoshihiro;
Yoshida, Takeshi;
Nakagawa, Naoko;
Wada, Takahito;
Kosugi, Shinji;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Chiyonobu, Tomohiro

Publication type:

Case Study

A pediatric case of productive cough caused by novel variants in DNAH9.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00134-6

By:

Takeuchi, Kazuhiko;
Xu, Yifei;
Ogawa, Satoru;
Ikejiri, Makoto;
Nakatani, Kaname;
Gotoh, Shimpei;
Usui, Satoko;
Masuda, Sawako;
Nagao, Mizuho;
Fujisawa, Takao

Publication type:

Article

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm).

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00135-z

By:

Runcharoen, Chakkaphan;
Fukunaga, Koya;
Sensorn, Insee;
Iemwimangsa, Nareenart;
Klumsathian, Sommon;
Tong, Hang;
Vo, Nam Sy;
Le, Ly;
Hlaing, Tin Maung;
Thant, Myo;
Zain, Shamsul Mohd;
Mohamed, Zahurin;
Pung, Yuh-Fen;
Capule, Francis;
Nevado, Jose;
Silao, Catherine Lynn;
Al-Mahayri, Zeina N.;
Ali, Bassam R.;
Yuliwulandari, Rika;
Prayuni, Kinasih

Publication type:

Article

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00128-4

By:

Taniguchi, Kosuke;
Inoue, Mikihiro;
Arai, Katsuhiro;
Uchida, Keiichi;
Migita, Osuke;
Akemoto, Yui;
Hirayama, Junya;
Takeuchi, Ichiro;
Shimizu, Hirotaka;
Hata, Kenichiro

Publication type:

Article