Works matching IS 2054345X AND DT 2020 AND VI 7 AND IP 1

Results: 44

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0109-z

By:

Yokoi, Takayuki;
Enomoto, Yumi;
Uehara, Tomoko;
Kosaki, Kenjiro;
Kurosawa, Kenji

Publication type:

Article

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00132-8

By:

Uchida, Noboru;
Shibata, Hironori;
Nishimura, Gen;
Hasegawa, Tomonobu

Publication type:

Article

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00130-w

By:

Ogura, Hiromi;
Ohga, Shouichi;
Aoki, Takako;
Utsugisawa, Taiju;
Takahashi, Hidehiro;
Iwai, Asayuki;
Watanabe, Kenichiro;
Okuno, Yusuke;
Yoshida, Kenichi;
Ogawa, Seishi;
Miyano, Satoru;
Kojima, Seiji;
Yamamoto, Toshiyuki;
Yamamoto-Shimojima, Keiko;
Kanno, Hitoshi

Publication type:

Article

Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00125-7

By:

Nawa, Yoshihiro;
Kimura, Hiroki;
Mori, Daisuke;
Kato, Hidekazu;
Toyama, Miho;
Furuta, Sho;
Yu, Yanjie;
Ishizuka, Kanako;
Kushima, Itaru;
Aleksic, Branko;
Arioka, Yuko;
Morikawa, Mako;
Okada, Takashi;
Inada, Toshiya;
Kaibuchi, Kozo;
Ikeda, Masashi;
Iwata, Nakao;
Suzuki, Michio;
Okahisa, Yuko;
Egawa, Jun

Publication type:

Article

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00131-9

By:

Hiromoto, Yoshitaka;
Azuma, Yoshiteru;
Suzuki, Yuichi;
Hoshina, Megumi;
Uchiyama, Yuri;
Mitsuhashi, Satomi;
Miyatake, Satoko;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Kato, Mitsuhiro;
Matsumoto, Naomichi

Publication type:

Article

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00129-3

By:

Khan, Amjad;
Umair, Muhammad;
Sharaf, Rania Abdulfattah;
Khan, Muhammad Ismail;
Ullah, Amir;
Abbas, Safdar;
Shaheen, Nargis;
Bilal, Muhammad;
Ahamd, Farooq

Publication type:

Article

A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-00127-5

By:

Ganapathiraju, Madhavi K.;
Subramanian, Sandeep;
Chaparala, Srilakshmi;
Karunakaran, Kalyani B.

Publication type:

Article

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-00124-8

By:

Ahmad, Saba;
Manon, Luis;
Bhat, Gifty;
Machado, Jerry;
Zalan, Alice;
Mata-Machado, Nikolas;
Garzon, Steven;
Yoshii, Akira

Publication type:

Article

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00126-6

By:

Nakase, Yoji;
Hamada, Atsuko;
Kitamura, Naoya;
Hata, Tsuyoshi;
Toratani, Shigeaki;
Yamamoto, Tetsuya;
Okamoto, Tetsuji

Publication type:

Article

Genetic architecture of left ventricular noncompaction in adults.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00120-y

By:

Ross, Samantha Barratt;
Singer, Emma S.;
Driscoll, Elizabeth;
Nowak, Natalie;
Yeates, Laura;
Puranik, Rajesh;
Sy, Raymond W.;
Rajagopalan, Sulekha;
Barratt, Alexandra;
Ingles, Jodie;
Bagnall, Richard D.;
Semsarian, Christopher

Publication type:

Article

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w

By:

McLaren, Terri L.;
De Roach, John N.;
Thompson, Jennifer A.;
Chen, Fred K.;
Mackey, David A.;
Hoffmann, Ling;
Urwin, Isabella R.;
Lamey, Tina M.

Publication type:

Article

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00121-x

By:

Matsuda, Shinichi;
Ohnuki, Yuko;
Okami, Mayuri;
Ochiai, Eriko;
Yamada, Shiro;
Takahashi, Kazumi;
Osawa, Motoki;
Okami, Kenji;
Iida, Masahiro;
Mochizuki, Hiroyuki

Publication type:

Article

Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Published in:

2020

By:

Maeda, Yasunori;
Sasaki, Akira;
Kasai, Shuya;
Goto, Shinichi;
Nishio, Shin-ya;
Sawada, Kaori;
Tokuda, Itoyo;
Itoh, Ken;
Usami, Shin-ichi;
Matsubara, Atsushi

Publication type:

Correction Notice

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00119-5

By:

Ikeda, Shoko;
Akamatsu, Chika;
Ijuin, Akifumi;
Nagashima, Ami;
Sasaki, Megumi;
Mochizuki, Akihiko;
Nagase, Hiromi;
Enomoto, Yumi;
Kuroda, Yukiko;
Kurosawa, Kenji;
Ishikawa, Hiroshi

Publication type:

Article

LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00117-7

By:

Horiuchi, Yasue;
Ichikawa, Tomoe;
Ohnishi, Tetsuo;
Iwayama, Yoshimi;
Toriumi, Kazuya;
Miyashita, Mitsuhiro;
Nohara, Izumi;
Obata, Nanako;
Toyota, Tomoko;
Yoshikawa, Takeo;
Itokawa, Masanari;
Arai, Makoto

Publication type:

Article

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Published in:

2020

By:

Hamada, Junpei;
Ochi, Fumihiro;
Sei, Yuka;
Takemoto, Koji;
Hirai, Hiroki;
Honda, Misa;
Shibata, Hironori;
Hasegawa, Tomonobu;
Eguchi, Mariko

Publication type:

Case Study

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00116-8

By:

Nishimura, Naoto;
Kumaki, Tatsuro;
Murakami, Hiroaki;
Enomoto, Yumi;
Katsumata, Kaoru;
Toyoshima, Katsuaki;
Kurosawa, Kenji

Publication type:

Article

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00113-x

By:

Romero, V. I.;
Pozo, J. C.;
Saenz, S.;
Llamos-Paneque, A.;
Liehr, T.;
Hosomichi, K.;
Tajima, A.

Publication type:

Article

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00110-0

By:

Shishido, Ayumi;
Morisada, Naoya;
Tominaga, Kenta;
Uemura, Hiroyasu;
Haruna, Akiko;
Hanafusa, Hiroaki;
Nozu, Kandai;
Iijima, Kazumoto

Publication type:

Article

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00115-9

By:

Maeda, Yasunori;
Sasaki, Akira;
Kasai, Shuya;
Goto, Shinichi;
Nishio, Shin-ya;
Sawada, Kaori;
Tokuda, Itoyo;
Itoh, Ken;
Usami, Shin-ichi;
Matsubara, Atsushi

Publication type:

Article

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00112-y

By:

Hashimoto, Nobuhiro;
Dateki, Sumito;
Suzuki, Eri;
Tsuchihashi, Takatoshi;
Isobe, Aiko;
Banno, Sari;
Kageyama, Tomoka;
Maeda, Naonori;
Hatabu, Naomi;
Sato, Rieko;
Miharu, Masashi;
Fujita, Hisayo;
Komiyama, Osamu;
Shimizu, Hitomi;
Hasegawa, Tomonobu;
Yamazawa, Kazuki

Publication type:

Article

Nonsense variants of STAG2 result in distinct congenital anomalies.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00114-w

By:

Aoi, Hiromi;
Lei, Ming;
Mizuguchi, Takeshi;
Nishioka, Nobuko;
Goto, Tomohide;
Miyama, Sahoko;
Suzuki, Toshifumi;
Iwama, Kazuhiro;
Uchiyama, Yuri;
Mitsuhashi, Satomi;
Itakura, Atsuo;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00111-z

By:

Deuitch, Natalie;
Li, Shao-Tzu;
Courtney, Eliza;
Shaw, Tarryn;
Dent, Rebecca;
Tan, Veronique;
Yackowski, Lauren;
Torene, Rebecca;
Berkofsky-Fessler, Windy;
Ngeow, Joanne

Publication type:

Article

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0108-0

By:

Osumi, Keita;
Suga, Kenichi;
Ono, Akemi;
Goji, Aya;
Mori, Tatsuo;
Kinoshita, Yukiko;
Sugano, Mikio;
Toda, Yoshihiro;
Urushihara, Maki;
Nakagawa, Ryuji;
Hayabuchi, Yasunobu;
Imoto, Issei;
Kagami, Shoji

Publication type:

Article

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0105-3

By:

Cueto-González, Anna M.;
Fernández-Cancio, Mónica;
Fernández-Alvarez, Paula;
García-Arumí, Elena;
Tizzano, Eduardo F.

Publication type:

Article

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

Published in:

2020

By:

Kondo, Yuto;
Aoyama, Kohei;
Suzuki, Hisato;
Hattori, Ayako;
Hori, Ikumi;
Ito, Koichi;
Yoshida, Aya;
Koroki, Mari;
Ueda, Kentaro;
Kosaki, Kenjiro;
Saitoh, Shinji

Publication type:

Case Study

Polo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0106-2

By:

Yoshihara, Hiroyuki;
Sugiura-Ogasawara, Mayumi;
Ozawa, Fumiko;
Kitaori, Tamao;
Ozaki, Yasuhiko;
Aoki, Koji;
Shibata, Yasuhiro;
Ugawa, Shinya;
Nishiyama, Takeshi;
Omae, Yosuke;
Tokunaga, Katsushi

Publication type:

Article

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0104-4

By:

Abe, Yuki;
Yamamoto, Toshiyuki;
Izumita, Yukie;
Tsukano, Shinya

Publication type:

Article

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0103-5

By:

Yamamoto-Shimojima, Keiko;
Ono, Hiroaki;
Imaizumi, Taichi;
Yamamoto, Toshiyuki

Publication type:

Article

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0102-6

By:

Yokoi, Takayuki;
Enomoto, Yumi;
Naruto, Takuya;
Kurosawa, Kenji;
Higurashi, Norimichi

Publication type:

Article

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0100-8

By:

Nadeem, Raheela;
Kabir, Firoz;
Li, Jiali;
Gradstein, Libe;
Jiao, Xiaodong;
Rauf, Bushra;
Naeem, Muhammad Asif;
Assir, Muhammad Zaman;
Riazuddin, Sheikh;
Ayyagari, Radha;
Hejtmancik, J. Fielding;
Riazuddin, S. Amer

Publication type:

Article

Haplotype-specific PCR for NAT2 diplotyping.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0101-7

By:

Wichukchinda, Nuanjun;
Pakdee, Jirapa;
Kunhapan, Punna;
Imunchot, Wimala;
Toyo-oka, Licht;
Tokunaga, Katsushi;
Mahasirimongkol, Surakameth

Publication type:

Article

Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0099-x

By:

Okazaki, Tetsuya;
Matsuura, Kaori;
Kasagi, Noriko;
Adachi, Kaori;
Kai, Masachika;
Okubo, Mariko;
Nishino, Ichizo;
Nanba, Eiji;
Maegaki, Yoshihiro

Publication type:

Article

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0098-y

By:

Chinen, Yasutsugu;
Yanagi, Kumiko;
Nakamura, Sadao;
Nakayama, Noriko;
Kamiya, Motoko;
Nakayashiro, Mami;
Kaname, Tadashi;
Naritomi, Kenji;
Nakanishi, Koichi

Publication type:

Article

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0097-z

By:

Nakama, Mina;
Sasai, Hideo;
Kubota, Mitsuru;
Hasegawa, Yuki;
Fujiki, Ryoji;
Okuyama, Torayuki;
Ohara, Osamu;
Fukao, Toshiyuki

Publication type:

Article

Phenotypes of a family with XLH with a novel PHEX mutation.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0095-1

By:

Yamamoto, Akiko;
Nakamura, Toshiro;
Ohata, Yasuhisa;
Kubota, Takuo;
Ozono, Keiichi

Publication type:

Article

Novel ARX mutation identified in infantile spasm syndrome patient.

Published in:

2020

By:

Takeshita, Yohei;
Ohto, Tatsuyuki;
Enokizono, Takashi;
Tanaka, Mai;
Suzuki, Hisato;
Fukushima, Hiroko;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Takada, Hidetoshi

Publication type:

Case Study

Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0096-0

By:

Poon, Kok-Siong;
Tan, Karen Mei-Ling;
Koay, Evelyn Siew-Chuan;
Sng, Andrew

Publication type:

Article

Farewell Editorial.

Published in:

2020

By:

Tokunaga, Katsushi

Publication type:

Editorial

A message from the new Editor-in-Chief of the Human Genome Variation.

Published in:

2020

By:

Imoto, Issei

Publication type:

Editorial

MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0091-5

By:

Onuma, Shinsuke;
Wada, Tamaki;
Araki, Ryosuke;
Wada, Kazuko;
Tanase-Nakao, Kanako;
Narumi, Satoshi;
Fukui, Miho;
Shoji, Yasuko;
Etani, Yuri;
Ida, Shinobu;
Kawai, Masanobu

Publication type:

Article

A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0089-z

By:

Bui, Chi-Bao;
Duong, Thao Thi Phuong;
Tran, Vien The;
Pham, Thuy Thanh T.;
Vu, Tung;
Chau, Gia Cac;
Vo, Thanh-Niem Van;
Nguyen, Vinh;
Trinh, Dieu-Thuong Thi;
Hoang, Minh Van

Publication type:

Article

Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

Published in:

2020

By:

Mawatari, Go;
Fujinami, Kaoru;
Liu, Xiao;
Yang, Lizhu;
Fujinami-Yokokawa, Yu;
Komori, Shiori;
Ueno, Shinji;
Terasaki, Hiroko;
Katagiri, Satoshi;
Hayashi, Takaaki;
Kuniyoshi, Kazuki;
Miyake, Yozo;
Tsunoda, Kazushige;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Nao-i, Nobuhisa

Publication type:

Correction Notice

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0090-6

By:

Takizaki, Nao;
Tsurusaki, Yoshinori;
Katsumata, Kaoru;
Enomoto, Yumi;
Murakami, Hiroaki;
Muroya, Koji;
Ishikawa, Hiroshi;
Aida, Noriko;
Nishimura, Gen;
Kurosawa, Kenji

Publication type:

Article