Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 2

Results: 10

Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 295, doi. 10.1007/s00439-021-02422-9

By:

Topaloglu, A. Kemal;
Simsek, Enver;
Kocher, Matthew A.;
Mammadova, Jamala;
Bober, Ece;
Kotan, Leman Damla;
Turan, Ihsan;
Celiloglu, Can;
Gurbuz, Fatih;
Yuksel, Bilgin;
Good, Deborah J.

Publication type:

Article

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7

By:

Hamanaka, Kohei;
Miyoshi, Keita;
Sun, Jia-Hui;
Hamada, Keisuke;
Komatsubara, Takao;
Saida, Ken;
Tsuchida, Naomi;
Uchiyama, Yuri;
Fujita, Atsushi;
Mizuguchi, Takeshi;
Gerard, Benedicte;
Bayat, Allan;
Rinaldi, Berardo;
Kato, Mitsuhiro;
Tohyama, Jun;
Ogata, Kazuhiro;
Shi, Yun Stone;
Saito, Kuniaki;
Miyatake, Satoko;
Matsumoto, Naomichi

Publication type:

Article

Fine human genetic map based on UK10K data set.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 273, doi. 10.1007/s00439-021-02415-8

By:

Hao, Ziqian;
Du, Pengyuan;
Pan, Yi-Hsuan;
Li, Haipeng

Publication type:

Article

Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.

Published in:

2022

By:

Maddirevula, Sateesh;
Alameer, Seham;
Ewida, Nour;
de Sousa, Mirta Mittelstedt Leal;
Bjørås, Magnar;
Vågbø, Cathrine Broberg;
Alkuraya, Fowzan S

Publication type:

Case Study

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 177, doi. 10.1007/s00439-021-02410-z

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 239, doi. 10.1007/s00439-021-02408-7

By:

Dominguez, Catherine E.;
Cunningham, David;
Venkataramany, Akila S.;
Chandler, Dawn S.

Publication type:

Article

SNP characteristics and validation success in genome wide association studies.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 229, doi. 10.1007/s00439-021-02407-8

By:

Gorlova, Olga Y.;
Xiao, Xiangjun;
Tsavachidis, Spiridon;
Amos, Christopher I.;
Gorlov, Ivan P.

Publication type:

Article

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 217, doi. 10.1007/s00439-021-02403-y

By:

Cinque, Luigia;
Micale, Lucia;
Manara, Elena;
Esposito, Andrea;
Palumbo, Orazio;
Chiariello, Andrea Maria;
Bianco, Simona;
Guerri, Giulia;
Bertelli, Matteo;
Giuffrida, Maria Grazia;
Bernardini, Laura;
Notarangelo, Angelantonio;
Nicodemi, Mario;
Castori, Marco

Publication type:

Article

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x

By:

Kreienkamp, Hans-Jürgen;
Wagner, Matias;
Weigand, Heike;
McConkie-Rossell, Allyn;
McDonald, Marie;
Keren, Boris;
Mignot, Cyril;
Gauthier, Julie;
Soucy, Jean-François;
Michaud, Jacques L.;
Dumas, Meghan;
Smith, Rosemarie;
Löbel, Ulrike;
Hempel, Maja;
Kubisch, Christian;
Denecke, Jonas;
Campeau, Philippe M.;
Bain, Jennifer M.;
Lessel, Davor

Publication type:

Article

The potential application of organoids in breast cancer research and treatment.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 193, doi. 10.1007/s00439-021-02390-0

By:

Ebrahimi, Nasim;
Nasr Esfahani, Alireza;
Samizade, Setare;
Mansouri, Atena;
Ghanaatian, Masoud;
Adelian, Samaneh;
Shadman Manesh, Vida;
Hamblin, Michael R.

Publication type:

Article