Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 4

Results: 12

Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 183, doi. 10.1038/jhg.2015.4

By:

Sosoi, Simona;
Streata, Ioana;
Tudorache, Stefania;
Burada, Florin;
Siminel, Mirela;
Cernea, Nicolae;
Ioana, Mihai;
Iliescu, Dominic Gabriel;
Mixich, Francisc

Publication type:

Article

Genetic diversity of disease-associated loci in Turkish population.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 193, doi. 10.1038/jhg.2015.8

By:

Karaca, Sefayet;
Cesuroglu, Tomris;
Karaca, Mehmet;
Erge, Sema;
Polimanti, Renato

Publication type:

Article

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 207, doi. 10.1038/jhg.2015.1

By:

Santos-Rebouças, Cíntia Barros;
de Almeida, Luciana Guedes;
Belet, Stefanie;
dos Santos, Suely Rodrigues;
Ribeiro, Márcia Gonçalves;
da Silva, Antônio Francisco Alves;
Medina-Acosta, Enrique;
dos Santos, Jussara Mendonça;
Gonçalves, Andressa Pereira;
Bahia, Paulo Roberto Valle;
Pimentel, Márcia Mattos Gonçalves;
Froyen, Guy

Publication type:

Article

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 167, doi. 10.1038/jhg.2015.5

By:

Tohyama, Jun;
Nakashima, Mitsuko;
Nabatame, Shin;
Gaik-Siew, Ch'ng;
Miyata, Rie;
Rener-Primec, Zvonka;
Kato, Mitsuhiro;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 221, doi. 10.1038/jhg.2015.6

By:

Imbard, Apolline;
Pasmant, Eric;
Sabbagh, Audrey;
Luscan, Armelle;
Soares, Magali;
Goussard, Philippe;
Blanché, Hélène;
Laurendeau, Ingrid;
Ferkal, Salah;
Vidaud, Michel;
Pinson, Stéphane;
Bellanne-Chantelot, Christine;
Vidaud, Dominique;
Wolkenstein, Pierre;
Parfait, Béatrice

Publication type:

Article

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7

By:

Kunii, Misako;
Doi, Hiroshi;
Higashiyama, Yuichi;
Kugimoto, Chiharu;
Ueda, Naohisa;
Hirata, Junichi;
Tomita-Katsumoto, Atsuko;
Kashikura-Kojima, Mari;
Kubota, Shun;
Taniguchi, Midori;
Murayama, Kei;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tanaka, Fumiaki

Publication type:

Article

How should the legal framework for the protection of human genomic data be formulated?-Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act).

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 225, doi. 10.1038/jhg.2014.121

By:

Yamamoto, Natsuko;
Kawashima, Minae;
Fujita, Takanori;
Suzuki, Masatomo;
Kato, Kazuto

Publication type:

Article

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2

By:

Seo, Jieun;
Choi, In-Ho;
Lee, Je Sang;
Yoo, Yongjin;
Kim, Nayoung KD;
Choi, Murim;
Ko, Jung Min;
Shin, Yong Beom

Publication type:

Article

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 203, doi. 10.1038/jhg.2014.123

By:

Hayashi, Shin;
Yagi, Mariko;
Morisaki, Ichijiro;
Inazawa, Johji

Publication type:

Article

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 199, doi. 10.1038/jhg.2014.122

By:

Sergouniotis, Panagiotis I;
Urquhart, Jill E;
Williams, Simon G;
Bhaskar, Sanjeev S;
Black, Graeme C;
Lovell, Simon C;
Whitby, David J;
Newman, William G;
Clayton-Smith, Jill

Publication type:

Article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Imagawa, Eri;
Ohba, Chihiro;
Kuki, Ichiro;
Nukui, Megumi;
Araki, Atsushi;
Makita, Yoshio;
Ogata, Tsutomu;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 217, doi. 10.1038/jhg.2015.3

By:

Koh, Kishin;
Kobayashi, Fumikazu;
Miwa, Michiaki;
Shindo, Kazumasa;
Isozaki, Eiji;
Ishiura, Hiroyuki;
Tsuji, Shoji;
Takiyama, Yoshihisa

Publication type:

Article