Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 4

Results: 11

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 681, doi. 10.1007/s00439-020-02240-5
By:
- Quintero-Rivera, Fabiola;
- Eno, Celeste C.;
- Sutanto, Christine;
- Jones, Kelly L.;
- Nowaczyk, Małgorzata J. M.;
- Wong, Derek;
- Earl, Dawn;
- Mirzaa, Ghayda;
- Beck, Anita;
- Martinez-Agosto, Julian A.
Publication type:
Article
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 667, doi. 10.1007/s00439-020-02239-y
By:
- Mikhael, Sasha;
- Dugar, Sonal;
- Morton, Madison;
- Chorich, Lynn P.;
- Tam, Kerlene Berwick;
- Lossie, Amy C.;
- Kim, Hyung-Goo;
- Knight, James;
- Taylor, Hugh S.;
- Mukherjee, Souhrid;
- Capra, John A.;
- Phillips III, John A.;
- Friez, Michael;
- Layman, Lawrence C.
Publication type:
Article
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 649, doi. 10.1007/s00439-020-02238-z
By:
- Ali, Muhammad;
- Khan, Shahid Y.;
- Rodrigues, Tony A.;
- Francisco, Tânia;
- Jiao, Xiaodong;
- Qi, Hang;
- Kabir, Firoz;
- Irum, Bushra;
- Rauf, Bushra;
- Khan, Asma A.;
- Mehmood, Azra;
- Naeem, Muhammad Asif;
- Assir, Muhammad Zaman;
- Ali, Muhammad Hassaan;
- Shahzad, Mohsin;
- Abu-Amero, Khaled K.;
- Akram, Shehla Javed;
- Akram, Javed;
- Riazuddin, Sheikh;
- Riazuddin, Saima
Publication type:
Article
Correction to: Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
Published in:
2021
By:
- Zhu, Zhaozhong;
- Lin, Yifei;
- Li, Xihao;
- Driver, Jane A.;
- Liang, Liming
Publication type:
Correction Notice
"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".
Published in:
2021
By:
- Yang, Xi;
- Zhang, Feng;
- Shi, Qinghua;
- Wu, Yanhua
Publication type:
Letter
Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.
Published in:
2021
By:
- Heddar, Abdelkader;
- Misrahi, Micheline
Publication type:
Letter
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 625, doi. 10.1007/s00439-020-02231-6
By:
- Provenzano, Aldesia;
- La Barbera, Andrea;
- Scagnet, Mirko;
- Pagliazzi, Angelica;
- Traficante, Giovanna;
- Pantaleo, Marilena;
- Tiberi, Lucia;
- Vergani, Debora;
- Kurtas, Nehir Edibe;
- Guarducci, Silvia;
- Bargiacchi, Sara;
- Forzano, Giulia;
- Artuso, Rosangela;
- Palazzo, Viviana;
- Kura, Ada;
- Giordano, Flavio;
- di Feo, Daniele;
- Mortilla, Marzia;
- De Filippi, Claudio;
- Mattei, Gianluca
Publication type:
Article
Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer's disease in genes and isoforms.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 609, doi. 10.1007/s00439-020-02230-7
By:
- Fan, Cong;
- Chen, Ken;
- Zhou, Jiaxin;
- Wong, Ping-pui;
- He, Dan;
- Huang, Yiqi;
- Wang, Xin;
- Ling, Tianze;
- Yang, Yuedong;
- Zhao, Huiying
Publication type:
Article
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 593, doi. 10.1007/s00439-020-02228-1
By:
- Nazlamova, Liliya;
- Thomas, N. Simon;
- Cheung, Man-Kim;
- Legebeke, Jelmer;
- Lord, Jenny;
- Pengelly, Reuben J.;
- Tapper, William J.;
- Wheway, Gabrielle
Publication type:
Article
Towards systematic nomenclature for cell-free DNA.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 565, doi. 10.1007/s00439-020-02227-2
By:
- Bronkhorst, Abel J.;
- Ungerer, Vida;
- Diehl, Frank;
- Anker, Philippe;
- Dor, Yuval;
- Fleischhacker, Michael;
- Gahan, Peter B.;
- Hui, Lisa;
- Holdenrieder, Stefan;
- Thierry, Alain R.
Publication type:
Article
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 579, doi. 10.1007/s00439-020-02226-3
By:
- Ahmed, Ashfaque;
- Wang, Meng;
- Bergant, Gaber;
- Maroofian, Reza;
- Zhao, Rongjuan;
- Alfadhel, Majid;
- Nashabat, Marwan;
- AlRifai, Muhammad Talal;
- Eyaid, Wafaa;
- Alswaid, Abdulrahman;
- Beetz, Christian;
- Qin, Yan;
- Zhu, Tengfei;
- Tian, Qi;
- Xia, Lu;
- Wu, Huidan;
- Shen, Lu;
- Dong, Shanshan;
- Yang, Xinyi;
- Liu, Cenying
Publication type:
Article