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
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
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
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
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
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
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
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