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A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

JOURNAL ARTICLE published October 2005 in Journal of Human Genetics

Authors: Isabel Alonso | Cristina Costa | André Gomes | Anabela Ferro | Ana I. Seixas | Sérgio Silva | Vitor Tedim Cruz | Paula Coutinho | Jorge Sequeiros | Isabel Silveira

https://doi.org/10.1007/s10038-005-0287-z Actions

BCS1L mutations produce Fanconi syndrome with developmental disability

JOURNAL ARTICLE published March 2022 in Journal of Human Genetics

Authors: Kojima-Ishii Kanako | Nana Sakakibara | Kei Murayama | Koji Nagatani | Satoshi Murata | Akira Otake | Yasutoshi Koga | Hisato Suzuki | Tomoko Uehara | Kenjiro Kosaki | Koh-ichiro Yoshiura | Hiroyuki Mishima | Yuko Ichimiya | Yuichi Mushimoto | Tomoko Horinouchi | China Nagano | Tomohiko Yamamura | Kazumoto Iijima | Kandai Nozu

https://doi.org/10.1038/s10038-021-00984-0 Actions

Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels

JOURNAL ARTICLE published August 2022 in Journal of Human Genetics

Authors: Yu-Yuan Huang | Yu-Xiang Yang | Hui-Fu Wang | Xue-Ning Shen | Lan Tan | Jin-Tai Yu | Alzheimer’s Disease Neuroimaging Initiative

https://doi.org/10.1038/s10038-022-01026-z Actions

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

JOURNAL ARTICLE published June 2022 in Journal of Human Genetics

Authors: Tasuku Mariya | Takema Kato | Takeshi Sugimoto | Syunsuke Miyai | Hidehito Inagaki | Tamae Ohye | Eiji Sugihara | Yukako Muramatsu | Seiji Mizuno | Hiroki Kurahashi

https://doi.org/10.1038/s10038-021-01004-x Actions

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

JOURNAL ARTICLE published April 2017 in Journal of Human Genetics

Authors: Xiaomei Luo | Yongyi Zou | Bo Tan | Yue Zhang | Jing Guo | Lanlan Zeng | Rui Zhang | Hu Tan | Xianda Wei | Yiqiao Hu | Yu Zheng | Desheng Liang | Lingqian Wu

https://doi.org/10.1038/jhg.2016.164 Actions

TFAP2B mutation and dental anomalies

JOURNAL ARTICLE published August 2017 in Journal of Human Genetics

Authors: Natchaya Tanasubsinn | Rekwan Sittiwangkul | Yupada Pongprot | Katsushige Kawasaki | Atsushi Ohazama | Thanapat Sastraruji | Massupa Kaewgahya | Piranit Nik Kantaputra

https://doi.org/10.1038/jhg.2017.37 Actions

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Kohei Hamanaka | Satoko Miyatake | Ayelet Zerem | Dorit Lev | Luba Blumkin | Kenji Yokochi | Atsushi Fujita | Eri Imagawa | Kazuhiro Iwama | Mitsuko Nakashima | Satomi Mitsuhashi | Takeshi Mizuguchi | Atsushi Takata | Noriko Miyake | Hirotomo Saitsu | Marjo S. van der Knaap | Tally Lerman-Sagie | Naomichi Matsumoto

https://doi.org/10.1038/s10038-018-0516-x Actions

The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Alka Malhotra | Kevin Cromer | Mark F. Leppert | Sandra J. Hasstedt

https://doi.org/10.1007/s10038-004-0222-8 Actions

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing

JOURNAL ARTICLE published December 2022 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP19ek0109234) | MEXT | Japan Society for the Promotion of Science (JP25293084)

Authors: Yo Hamaguchi | Hiroyuki Mishima | Tomoko Kawai | Shinji Saitoh | Kenichiro Hata | Akira Kinoshita | Koh-ichiro Yoshiura

https://doi.org/10.1038/s10038-022-01083-4 Actions

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

JOURNAL ARTICLE published February 2010 in Journal of Human Genetics

Authors: Laura MF Costrop | Olivier OM Vanakker | Lut Van Laer | Olivier Le Saux | Ludovic Martin | Nicolas Chassaing | Deanna Guerra | Ivonne Pasquali- Ronchetti | Paul J Coucke | Anne De Paepe

https://doi.org/10.1038/jhg.2009.132 Actions

Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene (DRD4) with schizophrenia and personality traits

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: H. Mitsuyasu | N. Hirata | Y. Sakai | H. Shibata | Y. Takeda | H. Ninomiya | H. Kawasaki | N. Tashiro | Y. Fukumaki

https://doi.org/10.1007/s100380170120 Actions

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Flavia Palombo | Nadia Al-Wardy | Guido Alberto Gnecchi Ruscone | Manuela Oppo | Mohammed Nasser Al Kindi | Andrea Angius | Khalsa Al Lamki | Giorgia Girotto | Tania Giangregorio | Matteo Benelli | Alberto Magi | Marco Seri | Paolo Gasparini | Francesco Cucca | Marco Sazzini | Mazin Al Khabori | Tommaso Pippucci | Giovanni Romeo

https://doi.org/10.1038/jhg.2016.120 Actions

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

JOURNAL ARTICLE published January 2010 in Journal of Human Genetics

Authors: Laura Vilarinho | Sandra Tafulo | Michelina Sibilio | Fernando Kok | Federica Fontana | Luisa Diogo | Margarida Venâncio | Mariana Ferreira | Celia Nogueira | Carla Valongo | Giancarlo Parenti | António Amorim | Luisa Azevedo

https://doi.org/10.1038/jhg.2009.110 Actions

Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin

JOURNAL ARTICLE published January 2013 in Journal of Human Genetics

Authors: Irene Paradisi | Vassiliki Ikonomu | Sergio Arias

https://doi.org/10.1038/jhg.2012.111 Actions

Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia

JOURNAL ARTICLE published May 2004 in Journal of Human Genetics

Authors: Kazuya Iwamoto | Miki Bundo | Shinsuke Washizuka | Chihiro Kakiuchi | Tadafumi Kato

https://doi.org/10.1007/s10038-004-0136-5 Actions

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

JOURNAL ARTICLE published June 2016 in Journal of Human Genetics

Authors: Renata Voltolini Velho | Nataniel Floriano Ludwig | Taciane Alegra | Fernanda Sperb-Ludwig | Nicole Ruas Guarany | Ursula Matte | Ida V D Schwartz

https://doi.org/10.1038/jhg.2016.13 Actions

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

JOURNAL ARTICLE published February 2016 in Journal of Human Genetics

Authors: Mahdiyeh Behnam | Eri Imagawa | Ahmad Reza Salehi Chaleshtori | Firooze Ronasian | Mansoor Salehi | Noriko Miyake | Naomichi Matsumoto

https://doi.org/10.1038/jhg.2015.127 Actions

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: H. Hirai | S. Nakajima | A. Miyauchi | K. Nishimura | N. Shimizu | M. Shima | T. Michigami | K. Ozono | S. Okada

https://doi.org/10.1007/s100380170124 Actions

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

JOURNAL ARTICLE published June 2011 in Journal of Human Genetics

Authors: Seon-Yong Jeong | Seo-Jin Kim | Jeong-A Yang | Ji-Hee Hong | Su-Jin Lee | Hyon J Kim

https://doi.org/10.1038/jhg.2011.37 Actions

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)

JOURNAL ARTICLE published July 2006 in Journal of Human Genetics

Authors: Mar Infante | Mercedes Durán | Eva Esteban-Cardeñosa | Cristina Miner | Eladio Velasco

https://doi.org/10.1007/s10038-006-0404-7 Actions
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