Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 1

Results: 9

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 93, doi. 10.1007/s00439-018-01967-6

By:

Dantas, Anelisa Gollo;
Nunes, Natalia;
Meloni, Vera Ayres;
Carvalheira, Gianna;
Melaragno, Maria Isabel;
Belangero, Sintia Nogueira;
Santoro, Marcos Leite;
de Mello, Claudia Berlim;
Pimenta, Larissa Salustiano Evangelista;
Soares, Diogo Cordeiro Queiroz;
Kim, Chong Ae

Publication type:

Article

The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 49, doi. 10.1007/s00439-018-1964-2

By:

Delgado, Dayana A.;
Gleason, Kevin;
Demanelis, Kathryn;
Chen, Lin S.;
Shinkle, Justin;
Sabarinathan, Mekala;
Tong, Lin;
Jasmine, Farzana;
Kibriya, Muhammad G.;
Pierce, Brandon L.;
Ahsan, Habibul;
Zhang, Chenan;
Roy, Shantanu;
Gao, Jianjun;
Argos, Maria;
Ahmed, Alauddin;
Islam, Tariqul;
Rakibuz-Zaman, Muhammad;
Sarwar, Golam;
Shahriar, Hasan

Publication type:

Article

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1

By:

DOOFNL Consortium;
Beynon, Andy J.;
Admiraal, Ronald J. C.;
Lanting, Cornelis P.;
Smits, Jeroen J.;
Oostrik, Jaap;
Pennings, Ronald J. E.;
Kremer, Hannie;
Schraders, Margit;
Yntema, Helger G.;
Kant, Sarina G.;
de Koning Gans, Pia A. M.;
Rotteveel, Liselotte J. C.;
Klein Wassink-Ruiter, Jolien S.;
Free, Rolien H.;
Maas, Saskia M.;
van de Kamp, Jiddeke;
Merkus, Paul;
Koole, Wouter;
Feenstra, Ilse

Publication type:

Article

Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 83, doi. 10.1007/s00439-018-1962-4

By:

Cai, Baozhu;
Wu, Yanhua;
Jin, Li;
Wang, Qiqi;
Chen, Qing;
Zhang, Feng;
Zhang, Xiaojin;
Li, Da;
Wang, Xiuxia;
Li, Caihua

Publication type:

Article

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 105, doi. 10.1007/s00439-018-1963-3

By:

Alazami, Anas M.;
Maddirevula, Sateesh;
Alkuraya, Fowzan S.;
Seidahmed, Mohamed Zain;
Albhlal, Lulu A.

Publication type:

Article

Genetic association and differential expression of PITX2 with acute appendicitis.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 37, doi. 10.1007/s00439-018-1956-2

By:

Finegold, David N.;
Ferrell, Robert E.;
Barmada, M. Michael;
Orlova, Ekaterina;
Marazita, Mary L.;
Shaffer, John R.;
Whitcomb, David C.;
Yeh, Andrew;
Shi, Min;
Firek, Brian;
Morowitz, Michael J.;
Ranganathan, Sarangarajan;
23andMe Research Team;
Hinds, David A.

Publication type:

Article

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 73, doi. 10.1007/s00439-018-1961-5

By:

Summerer, Anna;
Schäfer, Eleonora;
Kehrer-Sawatzki, Hildegard;
Mautner, Victor-Felix;
Messiaen, Ludwine;
Cooper, David N.

Publication type:

Article

Ways of improving precise knock-in by genome-editing technologies.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 1, doi. 10.1007/s00439-018-1953-5

By:

Smirnikhina, Svetlana A.;
Anuchina, Arina A.;
Lavrov, Alexander V.

Publication type:

Article

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 21, doi. 10.1007/s00439-018-1951-7

By:

Umeki, Ikumi;
Niihori, Tetsuya;
Abe, Taiki;
Inoue, Shin-ichi;
Aoki, Yoko;
Fujiwara, Ikuma;
Kure, Shigeo;
Kanno, Shin-ichiro;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Kurosawa, Kenji;
Nagasaki, Keisuke;
Yoshida, Makoto;
Ohashi, Hirofumi;
Matsubara, Yoichi

Publication type:

Article